Hipoplasia das cartilagens alares - coloboma-telecanto é um distúrbio dismórfico muito raro caracterizado por hipoplasia e coloboma das cartilagens alares e telecanto descrito em 2 irmãs. Nenhum novo caso com características semelhantes foi relatado desde 1976.
Introdução
O que você precisa saber de cara
Hipoplasia das cartilagens alares - coloboma-telecanto é um distúrbio dismórfico muito raro caracterizado por hipoplasia e coloboma das cartilagens alares e telecanto descrito em 2 irmãs. Nenhum novo caso com características semelhantes foi relatado desde 1976.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.
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 hipoplasia das cartilagens alares-coloboma-telecanto
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Mature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.
ObjectiveTo evaluate morphologic outcomes following mature cleft rhinoplasty using exclusive septum cartilage grafting.DesignRetrospective, observational study.SettingSingle institution, 8-year retrospective review.Patients/ParticipantsA total of 31 facially mature patients with non-syndromic unilateral cleft lip were included in this study.InterventionsPatients underwent mature cleft rhinoplasty using septum cartilage as the exclusive graft source.Main Outcome MeasuresPreoperative and postoperative photographs (at least 1 year after surgery) were analyzed using 8 distinct anthropometric parameters to assess for statistical significance in the changes to nasal morphology. Paired-samples t-tests were performed, and statistical significance was defined as P < .05.ResultsThe mean changes following mature cleft rhinoplasty were: alar cant 1.96 to 0.95 (P < .001), alar height angle 1.90 to 1.21 (P = .006), nasal tip deviation 2.90 to 1.99 (P < .001), vertical alar height ratio 0.95 to 0.95 (P = .4), nasofacial angle 28.52 to 31.48 (P = .003), nasolabial angle 83.15 to 87.96 (P = .01), columellar angle 9.09 to 3.30 (P < .0001), and nostril height ratio 0.80 to 0.88 (P < .001).ConclusionsThe nasal septum can be considered as a reliable initial choice for cartilage grafts during mature cleft rhinoplasty.
Nasolabial Transfer Flap with Auricular Cartilage Graft after Fat Grafting for Nasal Ala Reconstruction in Parry-Romberg Syndrome.
Alar atrophy associated with Parry-Romberg syndrome (PRS) can lead to significant nasal contour deformities. The primary objective of this study was to address nasal alar deformities in PRS patients through the application of a nasolabial transfer flap combined with an auricular cartilage graft after sequential fat grafting. All PRS patients with alar deformities who underwent our reconstructive surgery were included in this case series. Sequential fat grafting was performed on the affected nasolabial area, followed by a nasolabial transfer flap combined with an auricular cartilage graft. Surgical outcome and complications were recorded during postoperative follow-up. From September 2021 to November 2023, a total of 14 PRS patients presenting nasal alar defects underwent nasolabial transfer flap combined with an auricular cartilage graft after sequential fat grafting. Complications at 1 month postoperatively included partial flap necrosis (21%), hyperplastic scarring (14%), undercorrection (14%), overcorrection (7%), and pain (7%). The surgery significantly improved the patient's nasal symmetry. FACE-Q questionnaire indicated the overall aesthetic outcome and quality of life were deemed satisfactory for all patients. After sequential fat grafting, the nasolabial fold transfer flap with an auricular cartilage graft is effective to address alar deformities associated with PRS. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.
Surgical correction of stenotic nares using a single pedicle advancement flap technique in three brachycephalic cats.
Brachycephalic obstructive airway syndrome (BOAS) comprises a group of anatomical upper respiratory tract abnormalities that collectively result in various degrees of upper respiratory tract obstruction. Stenotic nares is a common feature of BOAS, and in dogs, the main cause is axial deviation of the alar cartilage. In contrast, narrowing of the nares in cats is predominantly the result of a redundant skin fold at the junction of the ventral floor of the nostrils and the haired skin of the lip. Three brachycephalic cats with inspiratory obstruction were referred to the surgery department of the Veterinary Teaching Hospital of Ferdowsi University of Mashhad, Iran. The predominant cause of obstruction was nostril stenosis due to the presence of redundant skin on the ventral floor of the nares. All three cats underwent surgical correction using a single pedicle advancement flap technique, which was first described by Berns et al. (2020). All three cats had positive outcomes, with no surgical complications and no episodes of respiratory distress reported within a 9-month follow-up. Appropriate surgical treatment of feline patients with stenotic nares can result in good long-term outcomes.
Septal Extension Graft in Increasing Nasal Tip Projection.
To study the use of septal extension graft for increasing nasal tip projection in cases of an under-projected nasal tip and to evaluate post-operative aesthetic and functional outcomes associated with it. 28 patients of underprojected tip underwent rhinoplasty with use of Direct caudal type of Septal extension graft with a minimum follow up of 12 months, operated between January 2018 to January 2020. ROE questionnaire and photographic evaluation were used for the assessment of post-operative functional and aesthetic outcomes. Significant improvement was seen in both aesthetic and functional outcomes with a mean ROE questionnaire score of 30.5 pre-operatively to 79.5 post-operatively. Pre-operative and post-operative photographic evaluation showed significant improvement in aesthetic outcome. None of the patients reported any postoperative complication. Septal extension graft can be used in patients with nasal tip deformity, Binder's syndrome, caudal septal dislocation, drooping tip,/ retracted columella and short nose with good post-operative aesthetic and functional outcomes and hence is an important technique for grafting. Owing to its rigid fixation with nasal septum, anterior nasal spine and lower alar cartilage, long term results for the control of nasal tip projection and rotation are remarkable.
Oro-Facial-Digital Syndrome: Unspecified Type with the Spontaneous Fusion of Cleft Palate.
Oro-facial-digital syndrome (OFD) is a disorder with varied inheritance patterns. They deal mainly with abnormalities of the face, digits, i.e., fingers and toes, and oral cavity. Hypoplasia of nasal alar cartilage, broad nasal bridge, frontal bossing, and micrognathia are the common facial abnormalities observed in its multiple potential forms. Among the oral features, lobulated tongue, multiple frenulae, and cleft lip/palate are the common findings. The subject presented in our case manifested cleft of the hard palate at the time of presentation, along with other diverse features, which could not match any of the defined OFD types in literature. Furthermore, follow-up of the infant observed closure of the palate spontaneously, without any intervention. Hence, the purpose is to add to the knowledge the typical features of this unspecified type of OFD, along with this unique unprompted cleft palate closure, which aroused the need of close watch in such cases.
Publicações recentes
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Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort.
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📚 EuropePMCmostrando 8
Mature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationNasolabial Transfer Flap with Auricular Cartilage Graft after Fat Grafting for Nasal Ala Reconstruction in Parry-Romberg Syndrome.
Aesthetic plastic surgerySurgical correction of stenotic nares using a single pedicle advancement flap technique in three brachycephalic cats.
Veterinary medicine and scienceSeptal Extension Graft in Increasing Nasal Tip Projection.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaOro-Facial-Digital Syndrome: Unspecified Type with the Spontaneous Fusion of Cleft Palate.
Contemporary clinical dentistryOne-stage reconstruction of full-thickness alar defects with a folded nasolabial island flap.
Archives of craniofacial surgeryNasal correction in nasomaxillary hypoplasia (Binder's syndrome): An optimised classification and treatment.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India[A nasal congenital malformation not published in the literature: About 5 cases].
Annales de chirurgie plastique et esthetiqueAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Mature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association· 2025· PMID 41042940mais citado
- Nasolabial Transfer Flap with Auricular Cartilage Graft after Fat Grafting for Nasal Ala Reconstruction in Parry-Romberg Syndrome.
- Surgical correction of stenotic nares using a single pedicle advancement flap technique in three brachycephalic cats.
- Septal Extension Graft in Increasing Nasal Tip Projection.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India· 2022· PMID 36213483mais citado
- Oro-Facial-Digital Syndrome: Unspecified Type with the Spontaneous Fusion of Cleft Palate.
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
- Long-term outcomes and prognostic predictors in patients with fibrosing mediastinitis associated pulmonary hypertension: a multicenter cohort study.
- Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort.
- Self-expanding versus balloon-expandable transcatheter heart valves in patients with excessive aortic valve cusp calcification.
- Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2007(Orphanet)
- OMIM OMIM:203000(OMIM)
- MONDO:0008744(MONDO)
- GARD:588(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781635(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