Introdução
O que você precisa saber de cara
Síndrome rara caracterizada por contraturas articulares, pescoço alado, micrognatia (mandíbula pequena) e hipoplasia mamilar (mamilos pouco desenvolvidos).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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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
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de contraturas-pescoço alado-micrognatia-hipoplasia mamilar
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Early Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyps. Women with PJS have a significantly increased risk of breast cancer, with surveillance recommended from an early age. A 36-year-old premenopausal woman with PJS was found to have a suspicious lesion in the right breast during routine ultrasound. Subsequent MRI demonstrated an enhancing lesion extending close to the nipple, and biopsy revealed ductal carcinoma in situ. Mammography showed widespread microcalcifications. She underwent right total mastectomy with sentinel lymph node biopsy, followed by immediate reconstruction with tissue expander and later implant exchange with fat grafting. No adjuvant radiotherapy or systemic therapy was administered. She has remained disease-free for 2.5 years postoperatively. This case demonstrates that structured breast surveillance in PJS can facilitate early detection of breast cancer. It underscores the clinical value of regular surveillance in hereditary cancer syndromes and supports the inclusion of breast screening as part of the comprehensive management of PJS.
Enhancing Prepectoral Direct-to-Implant Reconstruction Using the Serratus Anterior Fascia: The Hybrid Plane.
Immediate breast reconstruction has advanced significantly, yet optimal implant placement remains debated. Prepectoral implant-based breast reconstruction (IBR) offers aesthetic benefits but risks implant exposure and ptosis. Although acellular dermal matrices mitigate these risks, they pose complications such as infection, red breast syndrome, and high costs. Here, we aim to describe and evaluate our technique using the serratus anterior fascia as an autologous alternative for lower pole and lateral support in prepectoral IBR. All patients undergoing prophylactic or curative nipple-sparing mastectomy with immediate prepectoral direct-to-implant reconstruction between October 2023 and December 2024 received the hybrid plane technique and were included. In total, 10 patients received this technique (19 breasts). The mean age was 40.9 years, and the mean body mass index was 22.6 kg/m². All patients had pathogenic mutations, most commonly BRCA1. Three (30%) patients experienced complications, but no reconstruction failures occurred. Mean follow-up was 12.8 months. The absence of implant exposure despite postoperative complications, including wound dehiscence, highlights the safety and protection from the serratus anterior fascia. Similar to its use in subpectoral reconstruction, the serratus anterior fascia can improve prepectoral IBR, offering a safe and cost-free solution for total skin- and nipple-sparing mastectomies.
Scalp-Ear-Nipple Syndrome: A Rare Sporadic Presentation.
Association of coarctation of aorta with Turner syndrome: a case report.
Monosomy 45,X is commonly associated with congenital heart defects, particularly coarctation of the aorta (CoA). In this case, the patient developed respiratory distress due to hemodynamic instability from a large bidirectional patent ductus arteriosus (PDA) shunt and systemic hypoperfusion secondary to CoA, which complicated diagnosis and management. We report a 34-week premature female neonate weighing 1.94 kg, delivered via lower segment cesarean section (LSCS) due to oligohydramnios and intrauterine growth restriction. She exhibited characteristic features of Turner syndrome, including a webbed neck, low-set ears, widely spaced nipples, and lymphedema of the hands and feet. Karyotyping confirmed a 45,X monosomy. Echocardiography revealed a bicuspid aortic valve, juxtaductal coarctation of the aorta, a moderate-sized PDA with a bidirectional shunt, and suspected pulmonary hypertension. A contrast-enhanced CT aortogram confirmed the coarctation. The patient was managed with mechanical ventilation, continuous positive airway pressure (CPAP), surfactant therapy, and phototherapy. Rescue transcatheter balloon angioplasty was performed for the coarctation, followed by PDA ligation and surgical coarctation repair at a tertiary center, resulting in marked clinical improvement.
Methodological procedures for ultrasonographic assessment of the tongue during sucking in full-term infants: A scoping review.
This scoping review aimed to identify methodological procedures for acquiring and analyzing ultrasound images of the tongue during sucking in full-term infants. The Participants, Concept, and Context strategy was used to define the inclusion criteria: population (full-term infants); concept (ultrasound assessment); and context (assessment of tongue movements during sucking). It included observational, experimental, descriptive, and analytical studies, and excluded those unavailable in full, with premature infants, babies with craniofacial changes and syndromes, studies on animals, in vitro, letters to the editor, errata, and using ultrasound for other purposes. There were no language or time restrictions. Two blinded professionals independently selected 20 articles that met the inclusion criteria from different databases. The most evaluated parameters were related to the morphometric and kinematic aspects of the tongue, considering the physical behavior of the nipple and bottle nipple; sucking, swallowing, and breathing; distance from the tip of the nipple to the hard-soft palate junction; and milk flow. An endocavity transducer was positioned in the submental region at 5 MHz to 8 MHz. CONCLUSIONS: The studies present the acquisition and static analysis of ultrasound images of the tongue, hard and soft palate, nipple, and bottle nipple, and of kinematic measurements of the tongue, nipple, bottle nipple, and hyoid bone. They evaluated quantitative and qualitative parameters. Frequency adjustment depended on the child's age (the B mode was the most used), with babies reclined on the mother's lap to feed from the mother's breast and/or bottle.
Publicações recentes
A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia.
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.
📚 EuropePMCmostrando 200
Early Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.
Case reports in oncologyEnhancing Prepectoral Direct-to-Implant Reconstruction Using the Serratus Anterior Fascia: The Hybrid Plane.
Plastic and reconstructive surgery. Global openOsteopathic manipulative treatment for management of feeding dysfunction in breastfed newborns.
Journal of osteopathic medicineScalp-Ear-Nipple Syndrome: A Rare Sporadic Presentation.
International journal of dermatologyExploring Silicone-Induced Lupus Through a Case Report.
Mediterranean journal of rheumatologyInvasive breast carcinoma in a patient with PHTS: a case report.
Diagnostic pathologyPoland's Scoliosis: A Case Report and Literature Review.
Indian journal of orthopaedicsManagement of nipple-areolar necrosis in a patient with Klippel-Trenaunay Syndrome.
Journal of surgical case reportsPossible role of anastrozole-induced hormonal alterations in pathogenesis of mammary apocrine carcinoma and follicular lymphoma: a case report and review of the literature.
Journal of medical case reportsAssociation of coarctation of aorta with Turner syndrome: a case report.
Frontiers in pediatricsBreast Reconstruction in a Female Patient With Poland Syndrome.
Plastic and reconstructive surgery. Global openBilateral Red Breast Syndrome in Prepectoral Implant-based Immediate Breast Reconstruction Using Bovine Pericardium Acellular Collagen Matrix.
Plastic and reconstructive surgery. Global openClinical and genetic analysis of ulnar-mammary syndrome caused by a novel TBX3 mutation in a Chinese boy.
Intractable & rare diseases researchMethodological procedures for ultrasonographic assessment of the tongue during sucking in full-term infants: A scoping review.
BMC pediatricsAddressing Sexual Health in Breast Cancer Survivors: Evidence-Based Practices and Clinical Considerations.
Current treatment options in oncologyMaternal mastitis and streptococcal toxic shock syndrome risk from breastfeeding children with scarlet fever: case report and literature review.
The Lancet. Infectious diseasesExploring Breast Cancer Risk Management in HBOC Patients: Image Surveillance Versus Risk-reducing Surgery.
The Keio journal of medicineMöbius Syndrome With Possible Poland Syndrome Overlap: A Case Report.
CureusApproach to the Pediatric Poland Syndrome Patient: A 20-Year Academic Experience and Update of the Literature.
Annals of plastic surgeryCase Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome.
Frontiers in geneticsHair tourniquet syndrome leading to nipple autoamputation in an adult female: a case report.
Frontiers in surgeryPacifiers: Common Questions and Answers.
American family physicianBreast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report.
Surgical case reportsToe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.
Clinical geneticsCONCURRENT OCCURRENCE OF NEUROFIBROMATOSIS TYPE 1 AND TURNER SYNDROME: A PEDIATRIC CASE REPORT WITH COMPREHENSIVE LITERATURE REVIEW.
Acta endocrinologica (Bucharest, Romania : 2005)EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.
Molecular neurobiologyTuberous Breast and Poland Syndrome: An Underestimated Association?
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieSurgical Algorithm of Poland Syndrome Based on Thorax, Breast, and Nipple-areola Complex Classification.
Plastic and reconstructive surgery. Global openCommon Tongue Conditions in Primary Care.
American family physicianA novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia.
GeneAn inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.
Journal of cellular physiologyHer2-positive breast cancer in a young patient with Li-Fraumeni syndrome: A comprehensive case study.
International journal of surgery case reportsCongenital Nasal Pyriform Aperture Stenosis and the Significance of McGovern Nipple.
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & PractitionersA BTB extension and ion-binding domain contribute to the pentameric structure and TFAP2A binding of KCTD1.
Structure (London, England : 1993)Experience in the use of circular incision bi-pedicled vertical flap based mastectomy for grade III gynecomastia: A case series.
International journal of surgery case reportsWhole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
International journal of molecular sciencesStructural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction.
International journal of biological macromoleculesUsing targeted fetal rat testis genomic and endocrine alterations to predict the effects of a phthalate mixture on the male reproductive tract.
Current research in toxicologyChoriocarcinoma Syndrome: A Rare Complication's Impact on Metastatic Germ Cell Tumor Outcomes.
CureusJaffe-Campanacci syndrome resulted in amputation: A case report.
World journal of clinical casesPlasmapheresis in post-COVID-19 myelitis: A case report.
Qatar medical journalSurgical Treatment of Chest Deformity in a Patient with Poland Syndrome. Clinical Case Report.
International medical case reports journalEffects of Aloe Gel on Lactating Women with Nipple Trauma.
Breastfeeding medicine : the official journal of the Academy of Breastfeeding MedicineHashimoto's Thyroiditis in Noonan Syndrome: A Case Report.
CureusBTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Journal of medical geneticsA new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
Molecular genetics & genomic medicineA spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
European journal of medical geneticsCounselling Framework for Germline BRCA1/2 and PALB2 Carriers Considering Risk-Reducing Mastectomy.
Current oncology (Toronto, Ont.)Clinical and Radiological Features in Poland Syndrome: Report of 3 Cases and Review of Literature.
Global pediatric healthUntangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Scientific reportsIdiopathic spinal cord herniation with postoperative paraplegia-A case report.
Clinical case reportsFactors influencing final rendering in areola tattoo reconstruction: a statistical analysis.
Acta bio-medica : Atenei ParmensisHemophilia A and factor V deficiency in a girl with Turner syndrome: a case report.
Journal of medical case reportsBilateral Free Deep Inferior Epigastric Artery Perforator Flaps for Reconstruction following Mastectomy in Poland Syndrome Patients.
Plastic and reconstructive surgery. Global openA rare case of Burkitt's lymphoma of the breast in a 19-year-old male: Case report.
Clinical case reportsClinicopathological profile of mastalgia in females: incidence, types, and pathological correlations. a cross-Sectional study.
Annals of medicine and surgery (2012)Reproductive toxicity following in utero and lactational exposure to a human-relevant phthalate mixture in rats.
Toxicological sciences : an official journal of the Society of ToxicologyKoro-Like Symptoms in an Adolescent Female With Schizophrenia.
Journal of the American Academy of Child and Adolescent PsychiatryA novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.
Brain & developmentPreoperative computed tomography-guided transscapular sens-cure needle localization for pulmonary nodule located behind the scapula.
Journal of cardiothoracic surgeryExpanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.
American journal of medical genetics. Part AUnilateral breast enlargement in males during adolescence (10-19 years): Review of current literature and personal experience.
Acta bio-medica : Atenei ParmensisPressure Injury Prevention in Patients in Prone Position With Acute Respiratory Distress Syndrome and COVID-19.
Critical care nurseNevus comedonicus: A case report with the histological findings and brief review of the literature.
International journal of surgery case reportsImmediate prepectoral breast reconstruction using an ADM with smooth round implants: A prospective observational cohort study.
Journal of plastic, reconstructive & aesthetic surgery : JPRASLiterature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome.
Frontiers in pediatricsIncidental finding of Poland syndrome in a case of phimosis: a rare case report from Nepal.
Annals of medicine and surgery (2012)Left-Sided Poland Syndrome With No Hand Anomalies: A Case Report.
CureusKCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.
Ophthalmic geneticsBreast Lift Algorithm for the Treatment of Breast Implant Illness Requiring Implant Removal.
Aesthetic plastic surgeryRusty pipe syndrome: a case report and review of the literature.
BMC pregnancy and childbirth[A case of idiopathic spinal cord herniation with incomplete Brown-Séquard syndrome].
Rinsho shinkeigaku = Clinical neurologyDetection of PRRSV-2 alone and co-localized with CD163 positive macrophages in porcine placental areolae.
Veterinary immunology and immunopathologySIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.
PlacentaPrecocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.
Human genome variationA Rare Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Transverse Myelitis in a 40-Year-Old Patient With COVID-19.
CureusEffects of glepaglutide, a long-acting glucagon-like peptide-2 analog, on intestinal morphology and perfusion in patients with short bowel syndrome: Findings from a randomized phase 2 trial.
JPEN. Journal of parenteral and enteral nutritionPoint Shear Wave Elastography by ElastPQ for Fibrosis Screening in Patients with NAFLD: A Prospective, Multicenter Comparison to Vibration-Controlled Elastography.
Ultraschall in der Medizin (Stuttgart, Germany : 1980)Blood-Stained Colostrum: A Rare Phenomenon at an Early Lactation Stage.
Children (Basel, Switzerland)Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review.
Taiwanese journal of obstetrics & gynecologyNovel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Orphanet journal of rare diseasesRefining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
American journal of medical genetics. Part ARusty pipe syndrome. Safety of breastfeeding.
Ginekologia polskaNoonan Syndrome Presenting with Stunted Growth: A Case Report.
Mymensingh medical journal : MMJDiagnostic value of chest computed tomography images in adult Poland syndrome: a report of two cases.
The Journal of international medical researchTwo different presentations of de novo variants of CSNK2B: two case reports.
Journal of medical case reportsSerial transverse enteroplasty and nipple valve construction, two life saving techniques for patients with short bowel syndrome, a report of 5 cases.
BMC surgerySyndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation.
Journal of clinical research in pediatric endocrinologyClinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
Frontiers in endocrinologyPrenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
European journal of medical geneticsBloody nipple discharge in Carney complex: A case report.
The breast journalPoland's syndrome concomitant with congenital proximal and distal radioulnar synostosis: A rare case report.
Joint diseases and related surgerySurgical Treatment of Intercostal Brachial Nerve Pain after Mastectomy and Axillary Dissection.
Plastic and reconstructive surgery. Global openThe phenotypic characteristics of patients with athelia and tooth agenesis.
Annals of translational medicineAcute Transverse Myelitis Following COVID-19 Infection: A Rare Case From Saudi Arabia.
CureusThe RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.
American journal of medical genetics. Part AFamilial cleft tongue caused by a unique translation initiation codon variant in TP63.
European journal of human genetics : EJHGTurner syndrome mosaicism: Challenges in identification and management in primary care.
Journal of the American Association of Nurse PractitionersFeeding considerations for infants with craniofacial malformations.
Seminars in fetal & neonatal medicineA Case of Early Diagnosis of Turner Syndrome in a Neonate.
CureusCytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.
Molecular cytogeneticsSurgery of congenital breast asymmetry-which objective parameter influences the subjective satisfaction with long-term results.
Archives of gynecology and obstetricsScalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.
Clinical dysmorphologyConservative Management of Traumatic Brown-Séquard Syndrome: A Case Report.
The American journal of case reportsCombined management of open abdomen with enteroatmospheric fistula by negative pressure instill wound therapy and dermal matrix wound dressing.
Annali italiani di chirurgiaNoonan syndrome with somnambulism: A rare case report.
Industrial psychiatry journalHirschsprung disease with Edward syndrome: A rare association: A case report.
International journal of surgery case reportsEvaluation of Effect of Orthodontic Pacifiers in Prevention of Sudden Infant Death Syndrome: A Finite Element Method and Questionnaire Based Study.
The Journal of clinical pediatric dentistryCostello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.
Molecular genetics & genomic medicineTBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.
European journal of medical geneticsBreast reconstruction via fat grafting for a patient with bilateral congenital amastia (Finlay-Marks syndrome).
Congenital anomaliesEvaluation of the Safety of Taking Lamotrigine During Lactation Period.
Breastfeeding medicine : the official journal of the Academy of Breastfeeding MedicineBlue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement.
Neurosciences (Riyadh, Saudi Arabia)Severe epidermolysis bullosa/Kindler syndrome-like phenotype of an autoinflammatory syndrome in a child.
Clinical and experimental dermatologyReinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.
BMJ case reportsNovel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Frontiers in geneticsChinese herbal compound combined with western medicine therapy in the treatment of plasma cell mastitis: A protocol for systematic review and meta-analysis.
MedicineAnkyloglossia Superior Syndrome With Complex Craniofacial Anomalies: Case Report and Literature Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationKCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.
Molecular medicine reportsRED BREAST SYNDROME (RBS) ASSOCIATED TO THE USE OF POLYGLYCOLIC MESH IN BREAST RECONSTRUCTION: A CASE REPORT.
Acta chirurgiae plasticaeEVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
American journal of medical genetics. Part ATwo Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.
Molecular syndromologyMcGovern nipple: An alternative for nose breathing in newborn with CHARGE syndrome, having bilateral choanal atresia.
Journal of the Indian Society of Pedodontics and Preventive DentistryEpithelial Mesenchymal Transition and Progression of Breast Cancer Promoted by Diabetes Mellitus in Mice Are Associated with Increased Expression of Glycolytic and Proteolytic Enzymes.
Hormones & cancerAP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis.
Developmental cellPrevalence of Polycystic Ovarian Syndrome among Medical Students of a Tertiary Care Hospital.
JNMA; journal of the Nepal Medical AssociationAnti-Ri-associated paraneoplastic ophthalmoplegia-ataxia syndrome in a woman with breast cancer: a case report and review of the literature.
Journal of medical case reportsBloody Nipple Discharge Post Delivery: A Case of "Rusty Pipe Syndrome".
Korean journal of family medicineHow to manage BRCA mutation carriers?
Hormone molecular biology and clinical investigationCombining conventional and participatory approaches to identify and prioritise management and health-related constraints to smallholder pig production in San Simon, Pampanga, Philippines.
Preventive veterinary medicineNitrous oxide recreational abuse presenting with myeloneuropathy and mimicking Guillain-Barre syndrome.
Intractable & rare diseases researchPhenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
American journal of medical genetics. Part ANovel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
Clinical geneticsPoland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication.
NeuropediatricsA restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsInternipple Distance and Internipple Index in Prepubertal Turkish Girls.
Journal of clinical research in pediatric endocrinologySymptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.
The British journal of dermatologyTactile Sensitivity of Women with Turner Syndrome.
International journal of environmental research and public healthSurgical Outcomes of Implant-based Breast Reconstruction Using TiLoop Bra Mesh Combined With Pectoralis Major Disconnection.
Annals of plastic surgeryLeiomyoma of the Nipple: A common neoplasm in an uncommon location.
The breast journalMandibulofacial dysostosis with microcephaly: a syndrome to remember.
BMJ case reportsMalignant acanthosis nigricans as a paraneoplastic manifestation of metastatic breast cancer.
International journal of women's dermatologyMolecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
Scientific reportsBreast symptoms in adolescents and young adults presenting to a specialist breast clinic.
Australian journal of general practicePoland Sequence: Retrospective Analysis of 66 Cases.
Annals of plastic surgeryBarber Say Syndrome (A New Case Report).
Indian dermatology online journalRasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.
BMC pediatricsConcerns and Expectations of Risk-Reducing Surgery in Women with Hereditary Breast and Ovarian Cancer Syndrome.
Journal of clinical medicineGynecomastia - Conservative and Surgical Management.
Breast care (Basel, Switzerland)Galactorrhea, mastodynia and gynecomastia as the first manifestation of lung adenocarcinoma. A case report.
Respiratory medicine case reportsLethal silicone embolization syndrome complicating penile, scrotal and breast self-augmentation.
Forensic science, medicine, and pathologyHypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.
Endocrine connectionsManagement of the Lateral Breast.
Plastic and reconstructive surgery. Global openDevelopmental disorders and malformations of the breast.
Seminars in diagnostic pathologyMAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Journal of medical geneticsPartial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.
Cytogenetic and genome researchSafety Profile of Levonorgestrel: A Disproportionality Analysis of Food and Drug Administration Adverse Event Reporting System (Faers) Database.
Journal of reproduction & infertilityUse of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report.
CorneaNationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features.
Journal of clinical research in pediatric endocrinologyComparison of objective and subjective evaluation of breast symmetrization results in patients with Poland syndrome.
Polski przeglad chirurgicznyAcrocyanosis - A Symptom with Many Facettes.
Open access Macedonian journal of medical sciencesA case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene.
Turk pediatri arsiviGranulomatous diseases of the breast and axilla: radiological findings with pathological correlation.
Insights into imagingAtrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report.
Journal of medical case reportsClinical and cytogenetic features of 516 patients with suspected Turner syndrome - a single-center experience.
Journal of pediatric endocrinology & metabolism : JPEMCongenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection?
Breast care (Basel, Switzerland)Pigmented Macule - A Skin Manifestation of Invasive Breast Cancer.
The New England journal of medicineSwallow-Breath Interaction and Phase of Respiration with Swallow during Non-Nutritive Suck in Infants Affected by Neonatal Abstinence Syndrome.
Frontiers in pediatricsA patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.
International journal of pediatric endocrinologyModified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum.
The Annals of thoracic surgeryStandardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice.
Journal of biomedical sciencePerinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.
The American journal of case reportsMyhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy.
Clinical dysmorphologySex Differences in the Presentation of Body Dysmorphic Disorder in a Community Sample of Adolescents.
Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53When is the use of pacifiers justifiable in the baby-friendly hospital initiative context? A clinician's guide.
BMC pregnancy and childbirthNipple-Sparing Mastectomy and Its Application on BRCA Gene Mutation Carrier.
Clinical breast cancerCo-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
Developmental period medicineA case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
The Turkish journal of pediatricsObjective assessment of a preterm infant's nutritive sucking from initiation of feeding through hospitalization and discharge.
Neonatal intensive care : the journal of perinatology-neonatologyBecker Naevus Syndrome of the Lower Body: One Case and Review of the Literature.
Acta dermato-venereologicaEffect of restricted pacifier use in breastfeeding term infants for increasing duration of breastfeeding.
The Cochrane database of systematic reviewsIncreased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.
Journal of medical case reportsPhase II study of metformin for reduction of obesity-associated breast cancer risk: a randomized controlled trial protocol.
BMC cancerProposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome.
Plastic and reconstructive surgeryBi-pedicle nipple-sparing mastectomy (modified Letterman technique) and TIGR mesh-assisted immediate implant reconstruction, in a patient with Cowden syndrome.
Gland surgeryInvasive lobular carcinoma: a rare presentation in the male breast.
BMJ case reportsMicrocephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.
American journal of medical genetics. Part AEffects of milk flow on the physiological and behavioural responses to feeding in an infant with hypoplastic left heart syndrome.
Cardiology in the youngArg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.
Journal of pediatric endocrinology & metabolism : JPEM[Evaluation of risk factors for Mastitis-Metritis-Agalactia in pig farms in Switzerland].
Schweizer Archiv fur TierheilkundeSupernumerary nipples--a new finding in Williams syndrome.
Clinical dysmorphologyA Case Control Study of Diabetes During Pregnancy and Low Milk Supply.
Breastfeeding medicine : the official journal of the Academy of Breastfeeding MedicineCLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33.
Genetic counseling (Geneva, Switzerland)Conservative mastectomies and immediate reconstruction with the use of ADMs.
Gland surgeryChromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease.
Journal of pediatric and adolescent gynecologyA Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting.
Case reports in ophthalmologyA novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
European journal of pediatricsNonintubated Transareolar Endoscopic Thoracic Sympathectomy with a Flexible Endoscope: Experience of 58 Cases.
Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of AsiaNipple-sparing mastectomy in patients with BRCA1/2 mutations and variants of uncertain significance.
The British journal of surgeryCocaine use and the breastfeeding mother.
The practising midwifeAssociações
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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.
- Early Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.
- Enhancing Prepectoral Direct-to-Implant Reconstruction Using the Serratus Anterior Fascia: The Hybrid Plane.
- Scalp-Ear-Nipple Syndrome: A Rare Sporadic Presentation.
- Association of coarctation of aorta with Turner syndrome: a case report.
- Methodological procedures for ultrasonographic assessment of the tongue during sucking in full-term infants: A scoping review.
- A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia.
- BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
- A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
- A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
- A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:314002(Orphanet)
- MONDO:0017788(MONDO)
- GARD:21364(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q29982081(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