9 research outputs found
A 14-Year Follow-Up of a Case Detected Prenatally of Partial Trisomy 13q21.32-qter and Monosomy 18q22.3-qter as a Result of a Maternal Complex Chromosome Rearrangement Involving Chromosomes 6, 13, and 18
Presence of metabolic risk factors in non-obese PCOS sisters: Evidence of heritability of insulin resistance
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up Estudo clĂnico de 31 indivĂduos com defeitos de linha mĂ©dia facial com hipertelorismo e diretrizes para seguimento clĂnico
In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.<br>Objetivando contribuir com o delineamento clĂnico de defeitos de linha mĂ©dia facial com hipertelorismo (DLMFH) e com o diagnĂłstico etiolĂłgico das formas isoladas, foram avaliados 31 indivĂduos com DLMFH sem condiçÔes clĂnicas definidas. O Grupo A constituiu-se de pacientes examinados pessoalmente e o Grupo B, inicialmente, por outro geneticista. Entre os 14 pacientes do Grupo A, detectou-se 7 novos quadros de anomalias mĂșltiplas (AM). No Grupo B, 5 dos 17 pacientes exibiram um quadro clĂnico Ășnico e peculiar. Nos casos de DLMFH isolados, detectou-se associação com anomalias de ossos de crĂąnio e face (13/14), otorrinolaringolĂłgicas (11/16), de sistema nervoso central (9/16), oculares (6/7), e audiolĂłgicas (3/16); houve antecedentes gestacionais relevantes em 1/3. Existem evidĂȘncias de envolvimento de fatores ambientais em parte dos casos de formas isoladas de DLMFH, devendo-se atentar para a possibilidade de um quadro distinto de AM. Todas as investigaçÔes realizadas sĂŁo Ășteis para avaliação e seguimento clĂnico