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Baraitser-winter syndrome: an additional Arab patient
Egyptian Journal of Medical Human Genetics [The]. 2010; 11 (2): 187-191
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-126686
Biblioteca responsável: EMRO
ABSTRACT
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
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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Anormalidades Congênitas / Anormalidades Múltiplas / Criança / Malformações Vasculares do Sistema Nervoso Central / Hipertelorismo / Deficiência Intelectual Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: Egypt. J. Med. Hum. Genet. Ano de publicação: 2010