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Egyptian Journal of Medical Human Genetics

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Cantu syndrome in an Egyptian child

Rabah M. Shawky, Radwa Gamal

Abstract


We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, long philtrum, small low set ears, high arched palate, excess hair on the cheeks, short neck and excess hair over extremities and back. The patient had patent ductus arteriosus ligation, and mild pulmonary hypertension. Our patient has an affected mother which is consistent with autosomal dominant inheritance.

Keywords: Cantu syndrome, Hypertrichosis, Coarse features




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