| Literature DB >> 9738859 |
N A Al-Torki1, M A Sabry, A Al-Tawari, N H Al-Kandari, S A Al-Awadi.
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.Entities:
Mesh:
Year: 1998 PMID: 9738859 DOI: 10.1002/(sici)1096-8628(19980827)79:1<5::aid-ajmg2>3.0.co;2-p
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299