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Egyptian Journal of Medical Human Genetics [The]. 2010; 11 (2): 187-191
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-126686

RESUMO

An Arab child is presented herein with a phenotype that fits the rare Baraitser-Winter syndrome. Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short neck. In addition, she had cardiac defect, previously undescribed brain anomaly, seizures, hypotonia and developmental delay. Chromosomal analysis of the peripheral lymphocytes and FISH study revealed a normal 46, XX karyotype. To date, Baraitser-Winter syndrome has only been reported in 19 patients of different ethnic families. The present case adds a new finding to the spectrum of malformations published before


Assuntos
Humanos , Masculino , Anormalidades Congênitas , Anormalidades Múltiplas , Hipertelorismo , Deficiência Intelectual , Malformações Vasculares do Sistema Nervoso Central , Criança
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