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Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.
Clin Dysmorphol. 2009 Apr; 18(2):67-77.CD

Abstract

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 and 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.

Authors+Show Affiliations

Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil. siulan@centrinho.usp.brNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

19305190

Citation

Vendramini-Pittoli, Siulan, and Nancy Mizue Kokitsu-Nakata. "Oculoauriculovertebral Spectrum: Report of Nine Familial Cases With Evidence of Autosomal Dominant Inheritance and Review of the Literature." Clinical Dysmorphology, vol. 18, no. 2, 2009, pp. 67-77.
Vendramini-Pittoli S, Kokitsu-Nakata NM. Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 2009;18(2):67-77.
Vendramini-Pittoli, S., & Kokitsu-Nakata, N. M. (2009). Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clinical Dysmorphology, 18(2), 67-77. https://doi.org/10.1097/MCD.0b013e328323a7dd
Vendramini-Pittoli S, Kokitsu-Nakata NM. Oculoauriculovertebral Spectrum: Report of Nine Familial Cases With Evidence of Autosomal Dominant Inheritance and Review of the Literature. Clin Dysmorphol. 2009;18(2):67-77. PubMed PMID: 19305190.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. AU - Vendramini-Pittoli,Siulan, AU - Kokitsu-Nakata,Nancy Mizue, PY - 2009/3/24/entrez PY - 2009/3/24/pubmed PY - 2009/5/29/medline SP - 67 EP - 77 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 18 IS - 2 N2 - 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 and 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. SN - 1473-5717 UR - https://www.unboundmedicine.com/medline/citation/19305190/Oculoauriculovertebral_spectrum:_report_of_nine_familial_cases_with_evidence_of_autosomal_dominant_inheritance_and_review_of_the_literature_ L2 - http://dx.doi.org/10.1097/MCD.0b013e328323a7dd DB - PRIME DP - Unbound Medicine ER -