Craniofacial dyssynostosis with cryptorchidism and normal stature.
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.
Al-Torki
N A
NA
Medical Genetics Centre, Maternity Hospital, Kuwait.
Sabry
M A
MA
Al-Tawari
A
A
Al-Kandari
N H
NH
Al-Awadi
S A
SA
D001824:Body Constitution; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging; D003456:Cryptorchidism / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008297:Male; D011859:Radiography; D015898:Tomography Scanners, X-Ray Computed