Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
---|---|
Data(s) |
19/10/2012
19/10/2012
2009
|
Resumo |
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins. |
Identificador |
CLINICAL DYSMORPHOLOGY, v.18, n.2, p.67-77, 2009 0962-8827 http://producao.usp.br/handle/BDPI/26930 10.1097/MCD.0b013e328323a7dd |
Idioma(s) |
eng |
Publicador |
LIPPINCOTT WILLIAMS & WILKINS |
Relação |
Clinical Dysmorphology |
Direitos |
restrictedAccess Copyright LIPPINCOTT WILLIAMS & WILKINS |
Palavras-Chave | #autosomal dominant inheritances #first and second branchial arches #Goldenhar syndrome #hemifacial microsomia #oculoauriculovertebral dysplasia #oculoauriculovertebral spectrum #Vendramini-Pittoli and Kokitsu-Nakata #AURICULO-VERTEBRAL SPECTRUM #CONDUCTIVE HEARING-LOSS #MEATAL ATRESIA #HEMIFACIAL MICROSOMIA #MICROTIA #DEAFNESS #MANIFESTATIONS #GENERATIONS #DYSPLASIA #VARIANTS #Genetics & Heredity |
Tipo |
article original article publishedVersion |