American journal of medical genetics 1998-Aug
Craniofacial dyssynostosis with cryptorchidism and normal stature.
Numai utilizatorii înregistrați pot traduce articole
Log In / Înregistrare
Linkul este salvat în clipboard
Cuvinte cheie
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.