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Craniofacial dyssynostosis with cryptorchidism and normal stature
N A Al-Torki1, M A Sabry, A Al-Tawari
1Medical Genetics Centre, Maternity Hospital, Kuwait.
American Journal of Medical Genetics
|September 17, 1998
Abstract:
We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and agenesis of the corpus callosum. This report reemphasises the previously reported traits of craniofacial dysostosis syndrome and suggests that cryptorchidism represents part of the syndrome profile and that the presence of normal stature does not preclude the diagnosis.