Raras
Buscar doenças, sintomas, genes...
Síndrome de anomalia facio-digital-síndrome Pierre-Robin
ORPHA:2888CID-10 · Q87.8OMIM 311895DOENÇA RARA

Essa síndrome se caracteriza pela presença da sequência de Pierre Robin (com queixo para trás, céu da boca rachado e língua caída para trás), características faciais diferentes (testa alta e proeminente) e alterações nos dedos (dedos afilados, unhas muito curvadas, dedo mínimo torto, últimos ossinhos dos dedos curtos, polegares que parecem dedos comuns e articulações na base do polegar que saem do lugar com facilidade). O crescimento e o desenvolvimento mental eram normais.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Essa síndrome se caracteriza pela presença da sequência de Pierre Robin (com queixo para trás, céu da boca rachado e língua caída para trás), características faciais diferentes (testa alta e proeminente) e alterações nos dedos (dedos afilados, unhas muito curvadas, dedo mínimo torto, últimos ossinhos dos dedos curtos, polegares que parecem dedos comuns e articulações na base do polegar que saem do lugar com facilidade). O crescimento e o desenvolvimento mental eram normais.

Publicações científicas
27.042 artigos
Último publicado: 2026 Apr 17

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
4 sintomas
😀
Face
3 sintomas
👁️
Olhos
1 sintomas
🧬
Pele e cabelo
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

Micrognatia
Glossoptose
Falange distal do dedo curta
Sequência de Pierre-Robin
Unha hiperconvexa
Bossas frontais
12sintomas
Sem dados (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

MicrognatiaMicrognathia
GlossoptoseGlossoptosis
Falange distal do dedo curtaShort distal phalanx of finger
Sequência de Pierre-RobinPierre-Robin sequence
Unha hiperconvexaHyperconvex nail

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Anos de pesquisa8
Total histórico27.042PubMed
Últimos 10 anos200publicações
Pico202330 papers
Linha do tempo
20202018Hoje · 2026📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
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·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de anomalia facio-digital-síndrome Pierre-Robin

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de anomalia facio-digital-síndrome Pierre-Robin

Centros para Síndrome de anomalia facio-digital-síndrome Pierre-Robin

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
7.533 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 7.533

#1

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences2026 Feb 27

Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial anomaly detected on second-trimester ultrasound. Fetal DNA obtained by amniocentesis underwent next-generation sequencing. Parental testing was performed to assess inheritance. It was confirmed that autosomal dominant Stickler syndrome type I (ORPHA:90653) was caused by a heterozygous pathogenic frameshift variant in COL2A1 (c.3137del) that was inherited from the mother and identified in the fetus. Micrognathia was identified during prenatal ultrasound, and postnatal evaluation revealed characteristics that were consistent with Pierre Robin sequence and connective tissue involvement. The molecular discoveries elucidated the observed phenotype and facilitated multidisciplinary perinatal management. This case underscores the indispensable function of molecular diagnostics in the prenatal identification of monogenic disorders, including Stickler syndrome, in cases where conventional karyotyping is inadequate. Targeted clinical surveillance and family counseling are facilitated by early genetic confirmation. The report also emphasizes the necessity of incorporating molecular diagnostics into routine prenatal care for rare genetic diseases and the systemic limitations in access to genomic testing. Although the identified variant has been previously reported, this case highlights the clinical and diagnostic value of prenatal molecular confirmation in a resource-limited healthcare setting.

#2

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international2026

Pierre-Robin syndrome (PRS) is a disorder characterized by mandibular hypoplasia, leading to upper airway obstruction and feeding difficulties due to backward displacement of the tongue (glossoptosis). Cervical diastematomyelia is another rare congenital condition in which the spinal cord splits into two hemicords at the level of the cervical spine. We report a unique case of a 6-month-old boy who has cervical diastematomyelia and PRS. At birth, our patient had mandibular hypoplasia, respiratory distress, a posterior parietal region swelling, and reduced tone in all four limbs. On current examination, he now also has left-sided torticollis along with the findings mentioned at birth. Imaging demonstrated features consistent with an atretic parietal cephalocele, enlarged cerebellum in comparison with age-matched group, and short segment type II diastematomyelia in the proximal cervical spinal cord. In patients with these complex congenital anomalies, improving outcomes requires early detection and tailored management strategies.

#3

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics2026 Apr

Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic variants in the LOXL3 gene. A 20-year-old woman was referred to Medical Genetics due to Pierre Robin sequence, myopia, hearing loss, and distinct features. She was evaluated in early childhood with her sisters but was discharged without a specific genetic diagnosis. Polyhydramnios was detected in prenatal ultrasounds. Delivery occurred at 35 weeks. At birth, Pierre Robin sequence was evident, and she was admitted due to apnea. Complementary tests included karyotype, FISH 22q11, and screening for associated anomalies (cardiology, ophthalmology, ABR, and abdominal and cranial ultrasounds), all of which were normal. She had delayed speech development. She presents high myopia and bilateral conductive hearing loss, as well as nonspecific joint pain. She has two sisters with overlapping phenotypes. Both had cleft palate repair (one also with Pierre Robin sequence) and high-degree myopia. The first had a ventricular septal defect that spontaneously closed at age 5, and the second has conductive hearing loss. The physical examination highlights: microcephaly (head circumference < p1, -2.5 SD), downward-slanting palpebral fissures, midfacial and nasal ala hypoplasia, flat nasal bridge, elongated and flat philtrum, high-arched palate, absent uvula, joint hypermobility, shortening of third-fifth metacarpals and metatarsals, wide feet, and bilateral hallux valgus. Targeted sequencing of SS-associated genes revealed a likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in the LOXL3 gene. Affected sisters carry both variants; both parents are healthy carriers. We report three new cases of SS due to previously undescribed biallelic variants in the LOXL3 gene. The clinical features are similar to those observed in other SS patients; however, digital anomalies and microcephaly have not been previously reported in patients with LOXL3 variants, thus expanding the phenotypic spectrum. This case highlights the importance of re-evaluating patients in light of ongoing advances in genetic diagnostics.

#4

Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

JPRAS open2026 May

Stickler syndrome (SS) is the leading cause of hereditary retinal detachment (RD) in children and is characterized by ophthalmic, auditory, orofacial, and articular abnormalities. Vision loss often results from retinal events (RE), including retinal tears and detachments. To identify clinical and genetic risk factors for retinal events in patients with SS, to guide screening and preventive care. This retrospective cohort study included 78 patients with clinically or genetically confirmed SS seen at the University Medical Center Utrecht between 2000 and 2019. Predictors included family history of SS, presence of a COL2A1 pathogenic variant, and degree of myopia. The primary outcome was occurrence of a retinal event, defined as a retinal tear or detachment confirmed by an ophthalmologist. Covariates were age, sex, Pierre Robin sequence, refractive error, retinopathy, hearing problems, joint problems, and cleft palate. Descriptive statistics, univariate analyses, and multivariate Kaplan-Meier survival models with multiple imputation and Firth's correction were used. Nineteen of 78 patients (24%) developed at least one retinal event at a median age of 14 years. Multivariate analysis revealed that a positive family history of SS (HR 5.53, 95% CI 1.42-21.55), COL2A1 pathogenic variant (HR 3.59, 95% CI 1.00-12.82), and greater myopic refractive error (HR 0.86, 95% CI 0.74-0.99) were significantly associated with increased RE risk. A positive family history, COL2A1 mutation, and higher myopia independently predict retinal events in Stickler syndrome. Regular ophthalmologic screening is recommended for younger and high-risk patients, while education on early symptoms of retinal detachment is essential for older children and adults.

#5

Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.

Oral and maxillofacial surgery2026 Feb 17

Temporomandibular joint (TMJ) ankylosis impairs jaw function, limiting mouth opening, speech, and mastication, and rendering airway access high-risk. In patients with syndromic conditions such as Pierre Robin Sequence (PRS) and Klippel-Feil Syndrome (KFS), ankylosis presents additional challenges due to airway compromise, restricted mandibular growth, and complex skeletal abnormalities. In addition, predicting the ability to advance the mandible using a prosthesis may be challenging due to anatomic factors. We report the case of an 18-year-old female with TMJ ankylosis, PRS, and KFS, presenting with severe trismus, retrognathia, and failed prior distraction osteogenesis. Imaging confirmed bilateral bony TMJ ankylosis and high-risk airway anatomy due to cervical spine fusion to the skull base. The patient underwent a staged surgical reconstruction involving ankylosis release and delayed alloplastic joint replacement with mandibular advancement. A later revision using new patient-fitted condylar components retained the fossa components and advanced the mandible an additional amount. The prosthetic outcome for mandibular advancement remains excellent six years after final reconstruction. There is no evidence of wound dehiscence, prosthesis loosening, or failure, and overall function remains significantly improved. This case highlights the complexities of TMJ ankylosis in a patient with multiple craniofacial syndromes and demonstrates the importance of individualized, multidisciplinary planning and the utility of prosthetic TMJ reconstruction. Revision using a new condylar component to further advance the mandible is a potential means of treatment while maintaining the fossa component to minimize variables at the time of surgery.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences
2026

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international
2026

Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

JPRAS open
2026

Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.

Oral and maxillofacial surgery
2026

Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.

Clinical and experimental dental research
2025

Associated congenital malformations, syndromes, and medical conditions in patients with orofacial clefts: a 10-year hospital-based study in Thailand.

Frontiers in oral health
2025

Navigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.

The Medical journal of Malaysia
2025

Imaging of Congenital and Developmental Conditions of the Temporomandibular Joint.

Neuroimaging clinics of North America
2026

Lateral mandibular ridge: A unique feature of the auriculocondylar syndrome.

European journal of radiology
2026

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics
2025

Feasibility of High-Resolution Oximeter Plus Actigraphy Combined with a Cloud-Based Algorithm for the Detection of Obstructive Sleep Apnea in Children with Craniofacial Anomalies.

Sleep science (Sao Paulo, Brazil)
2025

Customized feeding plate for nutritional and respiratory support in an infant with Pierre Robin sequence and cleft palate complicated by severe respiratory infections: A case report.

Narra J
2025

Cognitive and Behavioral Characteristics of Children with Robin Sequence Associated with Stickler Syndrome: A Case Series.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Orthodontic Perspectives in the Interdisciplinary Management of Pediatric Obstructive Sleep Apnea.

Children (Basel, Switzerland)
2025

The Cumulative Burden of Comorbidities on Complications Following Mandibular Distraction Osteogenesis in Robin Sequence.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Special considerations for international weight standards for cleft surgery: presurgical optimisation in a patient with femoral-facial syndrome.

BMJ case reports
2025

Navigation-Guided Cochlear Implantation in Complex Congenital Ear Anomalies: Pierre Robin Syndrome With External Aural Atresia and Middle Ear Agenesis.

The Journal of craniofacial surgery
2025

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Orphanet journal of rare diseases
2025

Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections.

American journal of medical genetics. Part A
2025

A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence.

Cureus
2025

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.

Molecular genetics &amp; genomic medicine
2025

Characterizing Mandibular Morphology in Robin Sequence-A 3D Statistical Shape Analysis.

The Journal of craniofacial surgery
2025

Organization of Prenatal Care in Orofacial Clefts and Suspected Robin Sequence: A European Survey.

The Journal of craniofacial surgery
2025

Femoral-facial syndrome in a Black Bantu African preterm infant: a case report.

Journal of medical case reports
2025

Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.

Hematology (Amsterdam, Netherlands)
2025

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Orphanet journal of rare diseases
2025

Moving beyond surgical excellence: a qualitative systematic review into the perspectives and experiences of children, adolescents, and adults living with a rare congenital craniofacial condition and their parents.

Journal of plastic surgery and hand surgery
2025

Fetal alcohol spectrum disorder and health professionals' awareness of the syndrome: A comparison of practitioners' knowledge in two french regions.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2026

Robin Sequence and Isolated Cleft Palate are Associated With a High Prevalence of Obstructive Sleep Apnea in School-Aged Children.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Diagnosis and management of superficial arteriovenous malformations: French healthcare network's recommendations.

Orphanet journal of rare diseases
2025

The oral and maxillofacial manifestations of Stickler syndrome: A systematic review.

Journal of stomatology, oral and maxillofacial surgery
2025

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.

HGG advances
2025

Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis.

Early human development
2025

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

European journal of human genetics : EJHG
2025

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

European journal of human genetics : EJHG
2024

Robin Sequence: Neonatal Management.

NeoReviews
2024

Postoperative respiratory difficulties following primary cleft palate repair in infants with Robin sequence versus isolated cleft palate: A retrospective study.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2024

First Description of a Large Clinical Series of Fetal Alcohol Spectrum Disorders Children and Adolescents in Reunion Island, France.

Children (Basel, Switzerland)
2024

Lingual Abscess in an Adult Patient With Pierre Robin Sequence: A Case Report.

Cureus
2024

Airway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study.

Pediatric pulmonology
2024

Mandibular distraction osteogenesis in children with Pierre Robin sequence: long-term analysis of teeth and jaw growth.

The British journal of oral &amp; maxillofacial surgery
2024

Jaw Thrust: A Simple Predictor of Success in Mandibular Distraction Osteogenesis.

The Journal of craniofacial surgery
2024

Evaluation of hard palate and cleft morphology in neonates with Pierre Robin Sequence and Cleft Palate Only.

Orthodontics &amp; craniofacial research
2024

Prognostic Risks for Tracheostomy in Pierre Robin Sequence: A Cohort From a Tertiary Hospital in Thailand.

Annals of plastic surgery
2024

Long-term mandibular growth in patients with airway obstruction treated with mandibular distraction.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2024

Respiratory outcomes after cleft palate closure in Robin sequence: a retrospective study.

Clinical oral investigations
2024

Syndromic Piere Robbin Sequence- A Rare Presentation in Association with Multiple Heart Defects and Type III Stickler Syndrome.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2023

Anesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report.

Cureus
2024

Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2023

Management of an Anticipated Difficult Airway in a Pediatric Patient With Stickler Syndrome.

Cureus
2025

Failure of Mandibular Distraction Osteogenesis in Klippel- Feil Syndrome- 4: A Case Report of a Rare Syndromic Robin Sequence.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Clinical Characteristics of the Cleft Lip and/or Palate: Association with Congenital Anomalies, Syndromes, and Chromosomal Anomalies.

Yonago acta medica
2023

The Outcome of Mandibular Distraction Osteogenesis in Infants with Severe Pierre Robin Sequence in Vietnam.

The Kobe journal of medical sciences
2024

Robin Sequence Facial Profile After Conservative Treatment: A Long-Term Follow-Up.

The Journal of craniofacial surgery
2024

Fluoroscopic-Assisted Tongue Suspension: Advancement and Innovation in the Management of Complex Pediatric Obstructive Sleep Apnea.

The Laryngoscope
2024

European Guideline Robin Sequence An Initiative From the European Reference Network for Rare Craniofacial Anomalies and Ear, Nose and Throat Disorders (ERN-CRANIO).

The Journal of craniofacial surgery
2023

Tracheostomy, the Not So Definitive Airway?: Tracheostomy Morbidity in Pediatric Craniofacial Patients.

The Journal of craniofacial surgery
2024

Incidence, Characteristics, and Outcomes of Robin Sequence: A Population-Based Analysis in the United States.

The Journal of craniofacial surgery
2023

Associated anomalies in Pierre Robin sequence.

American journal of medical genetics. Part A
2023

Retrospective evaluation of the orthodontic treatment needs in primary school children with Robin sequence following Tübingen palatal plate therapy in infancy.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2023

Management of cleft palate among patients with Pierre Robin sequence.

The British journal of oral &amp; maxillofacial surgery
2023

Feeding Outcomes After Mandibular Distraction for Airway Obstruction in Infants.

The Journal of craniofacial surgery
2023

Pediatric Sleep Respiratory Disorders: A Narrative Review of Epidemiology and Risk Factors.

Children (Basel, Switzerland)
2023

Epidemiology of Robin sequence in the UK and Ireland: an active surveillance study.

Archives of disease in childhood
2023

Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome.

Birth defects research
2023

Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.

Children (Basel, Switzerland)
2023

Survival, hospitalisation and surgery in children born with Pierre Robin sequence: a European population-based cohort study.

Archives of disease in childhood
2023

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.

The Journal of pediatrics
2023

Is a Difficult Airway Team Needed for Intubation at Removal of Mandibular Distraction Devices for Infants With Robin Sequence?

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2023

Rare syndromes in dentistry Part 1: The Pierre Robin sequence: a focus on a rare congenital anomaly.

European journal of paediatric dentistry
2023

Babies With Pierre Robin Sequence: Neuropsychomotor Development.

Pediatric neurology
2022

Carotid Anomalies and Their Implication in ENT Surgery.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2023

Identification of micrognathia by prenatal ultrasound may improve timely diagnosis and management of infants with Robin sequence.

Prenatal diagnosis
2022

A novel approach to airway management in Pierre Robin syndrome-a case report.

Oxford medical case reports
2024

The Incidence of Velopharyngeal Insufficiency in Stickler Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Screening for Obstructive Sleep Apnea and Associated Risk Factors in Adolescents and Adults With Isolated Robin Sequence.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Modified mandible traction with wires to treat neonatal Pierre Robin sequence: A case report.

Frontiers in surgery
2023

Tri-lobed Tongue: Rare Manifestation Accompany With Pierre Robin Sequence.

The Journal of craniofacial surgery
2024

Lacrimal drainage anomalies in Pierre Robin sequence.

Orbit (Amsterdam, Netherlands)
2023

Gene mutations and chromosomal abnormalities in syndromes with tooth agenesis.

Oral diseases
2023

Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study.

Congenital anomalies
2022

Associated anomalies in cases with achondroplasia.

European journal of medical genetics
2022

Pierre Robin Sequence and 3D Printed Personalized Composite Appliances in Interdisciplinary Approach.

Polymers
2023

The management of upper airway obstruction in Pierre Robin Sequence.

Paediatric respiratory reviews
2023

Mandibular morphology and distraction osteogenesis vectors in patients with Robin sequence.

International journal of oral and maxillofacial surgery
2023

Obstructive sleep apnea is position dependent in young infants.

Pediatric research
2024

Oral health-related quality of life in patients with cleft lip and/or palate or Robin sequence.

Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie
2022

Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.

The Journal of clinical investigation
2023

Fetal Micro and Macroglossia: Defining Normal Fetal Tongue Size.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2021

The Influence of Genetic Syndromes on the Algorithm of Cleft Lip and Palate Repair - A Retrospective Study.

Annals of maxillofacial surgery
2022

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Orphanet journal of rare diseases
2022

Early weight gain in infants with Robin sequence after mandibular distraction.

International journal of oral and maxillofacial surgery
2023

Craniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Pre-Epiglottic Baton Plate in the Management of Upper Airway Obstruction in an Infant with Femoral Facial Syndrome: A Case Report.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2021

Comparison of direct laryngoscopy and video-assisted laryngoscopy in pediatric intensive care unit.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2021

Three-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics
2022

Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study.

The Journal of pediatrics
2021

The role of the nasopharyngeal prong in craniofacial disorders in particular the Pierre Robin sequence.

Seminars in fetal &amp; neonatal medicine
2021

Fetal markers for the detection of infants with craniofacial malformation.

Seminars in fetal &amp; neonatal medicine
2022

Robin sequence without cleft palate: Genetic diagnoses and management implications.

American journal of medical genetics. Part A
2021

Genetics of craniofacial malformations.

Seminars in fetal &amp; neonatal medicine
2021

The role of upper airway endoscopy in craniofacial malformations.

Seminars in fetal &amp; neonatal medicine
2021

Distribution and risk factors of cleft lip and palate on patients from a sample of Damascus hospitals - A case-control study.

Heliyon
2021

Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.

Molecular cytogenetics
2022

Cleft palate lateral synechia syndrome in two patients and literature review.

International journal of oral and maxillofacial surgery
2021

Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen.

Journal of speech, language, and hearing research : JSLHR
2022

Association between habitual snoring, middle ear disease, and speech problems in young children with non-syndromic cleft palate anomalies.

International journal of oral and maxillofacial surgery
2023

Unusual phenotypes in patients with a pathogenic germline variant in DICER1.

Familial cancer
2023

Pudendal nerve block for circumcision of pediatric patient with Pierre Robin Sequence: case report.

Brazilian journal of anesthesiology (Elsevier)
2022

Mandibular Distraction Osteogenesis for Tongue-Based Airway Obstruction Without Micrognathia.

Annals of plastic surgery
2021

Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.

Paediatric and perinatal epidemiology
2021

Predictors of Respiratory Dysfunction at Diagnosis of Robin Sequence.

The Laryngoscope
2022

Tongue-filled pharynx sign: new simple ultrasound clue to assess glossoptosis in Pierre Robin sequence.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2021

Robin Sequence: Neonatal Mandibular Distraction.

Clinics in plastic surgery
2022

How Does Hypodontia Compare in Nonsyndromic Pierre Robin Sequence Versus Isolated Cleft Palate and Isolated Cleft Lip?

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2021

Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

American journal of human genetics
2022

Cleft Lip and Palate in Infants With Prenatal Opioid Exposure.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2021

Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.

Annals of plastic surgery
2021

Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes.

Clinical oral investigations
2021

Videolaryngoscopy Bails us out of Difficult Intubation Scenarios in Syndromic Children: A Case Series.

Turkish journal of anaesthesiology and reanimation
2021

Pierre Robin sequence with tetralogy of Fallot: An unusual finding.

International journal of health sciences
2021

Tooth Development Following Mandibular Distraction Osteogenesis in Neonates With Pierre Robin Sequence.

The Journal of craniofacial surgery
2021

Craniofacial Features in Richieri-Costa-Pereira Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

[Dental complications of the mandibular distraction osteogenesis].

Stomatologiia
2021

Clinical and Demographical Characteristics of Cleft Lip and/or Palate in the Northwest of Iran: An Analysis of 1500 Patients.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2021

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.

Clinical genetics
2021

Rigid Video Laryngoscopy for Intubation in Severe Pierre Robin Sequence: A Retrospective Review.

The Laryngoscope
2020

Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex.

Journal of developmental biology
2021

Mandibular distraction osteogenesis for Pierre Robin sequence: The Sydney experience.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2020

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.

Medicine
2021

Med23 Regulates Sox9 Expression during Craniofacial Development.

Journal of dental research
2020

A Comparison of Outcomes After Palatoplasty in Patients With Non-Syndromic Pierre Robin Sequence Versus Patients With Non-Syndromic Isolated Cleft Palate.

The Journal of craniofacial surgery
2021

Endotracheal intubation using a three-dimensional printed airway model in a patient with Pierre Robin sequence and a history of tracheostomy -a case report.

Korean journal of anesthesiology
2020

Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.

Journal of developmental biology
2021

Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

Placement of a Supraglottic Airway to Overcome Airway Obstruction When Performing Nasal Fiberoptic Intubation in Infants With Pierre Robin Sequence: A Case Series.

A&amp;A practice
2020

A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.

Clinical genetics
2020

Pierre Robin Sequence: Diagnostic Difficulties Faced while Differentiating Isolated and Syndromic Forms.

Acta medica (Hradec Kralove)
2020

CHEDDA syndrome: a case report and review of the literature for this newly described entity.

Radiology case reports
2021

Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

Mandibular Distraction in Robin Sequence With Multi-Level Airway Disease: Always Contraindicated?

The Journal of craniofacial surgery
2020

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Human mutation
2020

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

American journal of medical genetics. Part A
2020

Total facial nerve injury during mandibular distraction osteogenesis.

International journal of pediatric otorhinolaryngology
2020

Technical note on introducing a digital workflow for newborns with craniofacial anomalies based on intraoral scans - part II: 3D printed Tübingen palatal plate prototype for newborns with Robin sequence.

BMC oral health
2020

Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.

Molecular cytogenetics
2020

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Genetics in medicine : official journal of the American College of Medical Genetics
2020

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

[Etiological diagnosis and clinical evaluation of isolated fetal ascites].

Zhonghua fu chan ke za zhi
2020

Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.

Journal of neuromuscular diseases
2020

Weight gain in infants with Pierre Robin sequence.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2020

Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).

The Journal of craniofacial surgery
2020

Macrodontia Associated with Mandibular Distraction Osteogenesis.

Journal of dentistry for children (Chicago, Ill.)
2019

Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features.

Imaging science in dentistry
2019

Pierre Robin Sequence in a Child With Ectopic Kidney, Polysyndactyly, And Short Stature: A Case Report.

Cureus
2020

Catel-Manzke syndrome without Manzke dysostosis.

American journal of medical genetics. Part A
2020

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.

American journal of medical genetics. Part A
2019

A clinical prediction rule to identify difficult intubation in children with Robin sequence requiring mandibular distraction osteogenesis based on craniofacial CT measures.

BMC anesthesiology
2020

A retrospective study of patients with Robin sequence: Patient characteristics and their impact on clinical outcomes.

International journal of pediatric otorhinolaryngology
2020

The Comparison of Pierre Robin Sequence and Non-Syndromic Cleft Palate.

The Journal of craniofacial surgery
2020

A comparison of airway interventions and gastrostomy tube placement in infants with Robin sequence.

International journal of oral and maxillofacial surgery
2019

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

American journal of medical genetics. Part A
2020

The use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study.

Journal of stomatology, oral and maxillofacial surgery
2019

Mid-Term Outcome of Mandibular Distraction Osteogenesis in Pierre Robin Sequence.

The Journal of craniofacial surgery
2019

Cervical Stenosis in Non-Syndromic Pierre Robin Sequence.

The Journal of craniofacial surgery
2020

Methadone, Pierre Robin sequence and other congenital anomalies: case-control study.

Archives of disease in childhood. Fetal and neonatal edition
2019

Expanding the phenotypic spectrum associated with DPF2: A new case report.

American journal of medical genetics. Part A
2019

Clinical attitude to the patient with Non-syndromic Pierre Robin Sequence with the cleft of soft palate and uvula - The necessity of fibroscopic investigation.

Neuro endocrinology letters
2019

Risk Factors for Perioperative Respiratory Failure following Mandibular Distraction Osteogenesis for Micrognathia: A Retrospective Cohort Study.

Plastic and reconstructive surgery
2019

The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.

International orthodontics
2019

Which Factors Affect Length of Stay and Readmission Rate in Mandibular Distraction Osteogenesis?

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2019

CT Imaging Categorization and Biomarker Study of Anomalous Tympanic Segment of the Facial Nerves in Patients With Hearing Loss in the Absence of Microtia.

Ear, nose, &amp; throat journal
2019

Kyphomelic dysplasia, Pierre Robin Sequence and pregnant.

International journal of obstetric anesthesia
2019

Assessment of Health-Related Quality of Life in Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion.

Plastic and reconstructive surgery
2019

Infant Midnasal Stenosis: Reliability of Nasal Metrics.

AJNR. American journal of neuroradiology
2018

Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence.

Frontiers in pediatrics
2018

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.

Frontiers in genetics
2019

Imaging Findings in Syndromes with Temporal Bone Abnormalities.

Neuroimaging clinics of North America
2018

Unmasking familial CPX by WES and identification of novel clinical signs.

American journal of medical genetics. Part A
2019

Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2018

Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.

American journal of medical genetics. Part A
2018

Peripartum Management of Neonatal Pierre Robin Sequence.

Clinics in perinatology
2019

Novel dental phenotype in non-syndromic Pierre Robin Sequence: A retrospective study.

Archives of oral biology
2018

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders.

Annals of translational medicine
2019

Contribution of three-dimensional ultrasound and three-dimensional helical computed tomography to prenatal diagnosis of Stickler syndrome.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2019

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.

European journal of medical genetics
2018

Release of syngnathia by anticlockwise rotation and mandibular advancement using bilateral alloplastic temporomandibular joint prostheses: a new approach.

The British journal of oral &amp; maxillofacial surgery
2018

Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.

American journal of medical genetics. Part A
2018

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.

The Journal of craniofacial surgery
2018

Epidemiology of Robin sequence with cleft palate in the East of Scotland between 2004 and 2013.

Pediatric pulmonology
2019

Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2018

Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

Predictors of Failure in Infant Mandibular Distraction Osteogenesis.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2018

[Association of macular coloboma and Pierre Robin sequence; could it be Stickler syndrome?].

Journal francais d'ophtalmologie
2018

Predicting Adverse Perioperative Events in Patients Undergoing Primary Cleft Palate Repair.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2018

Mortality in Robin sequence: identification of risk factors.

European journal of pediatrics
2018

Diagnosing Tongue Base Obstruction in Pierre Robin Sequence Infants: Sleep vs Awake Endoscopy.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    International journal of molecular sciences· 2026· PMID 41828453mais citado
  2. Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
    Surgical neurology international· 2026· PMID 41783179mais citado
  3. Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
    Clinical genetics· 2026· PMID 41052910mais citado
  4. Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
    JPRAS open· 2026· PMID 41768284mais citado
  5. Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
    Oral and maxillofacial surgery· 2026· PMID 41699301mais citado
  6. Abduction-Release Sign in Heavy Eye Syndrome.
    J Neuroophthalmol· 2026· PMID 41995157recente
  7. Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
    Cureus· 2026· PMID 41994773recente
  8. A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
    Front Vet Sci· 2026· PMID 41994257recente
  9. Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
    Saudi J Ophthalmol· 2026· PMID 41994245recente
  10. Potential mechanisms of the glucocorticoid withdrawal syndrome.
    Eur J Endocrinol· 2026· PMID 41988948recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2888(Orphanet)
  2. OMIM OMIM:311895(OMIM)
  3. MONDO:0010710(MONDO)
  4. GARD:1274(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55782602(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de anomalia facio-digital-síndrome Pierre-Robin
Compêndio · Raras BR

Síndrome de anomalia facio-digital-síndrome Pierre-Robin

ORPHA:2888 · MONDO:0010710
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
X-linked recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1839464
Wikidata
Papers 10a
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