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- Title
Cantu syndrome in an Egyptian child.
- Authors
Shawky, Rabah M.; Gamal, Radwa
- 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.
- Subjects
CONGENITAL disorders; HYPERTRICHOSIS; OSTEOCHONDRODYSPLASIAS; HEART dilatation; GENETIC disorders
- Publication
Egyptian Journal of Medical Human Genetics, 2018, Vol 19, Issue 4, p429
- ISSN
1110-8630
- Publication type
Case Study
- DOI
10.1016/j.ejmhg.2018.01.005