BRIEF CLINICAL REPORT - CRANIOFACIAL DYSSYNOSTOSIS WITH CRYPTORCHIDISM AND NORMAL STATURE

Authors
ALTORKI NA SABRY MA ALTAWARI A ALKANDARI NH ALAWADI SA
Citation
Na. Altorki et al., BRIEF CLINICAL REPORT - CRANIOFACIAL DYSSYNOSTOSIS WITH CRYPTORCHIDISM AND NORMAL STATURE, American journal of medical genetics, 79(1), 1998, pp. 5-7
Citations number
4
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
79
Issue
1
Year of publication
1998
Pages
5 - 7
Database
ISI
SICI code
0148-7299(1998)79:1<5:BCR-CD>2.0.ZU;2-F
Abstract
We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and ag enesis 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 p resence of normal stature does not preclude the diagnosis. (C) 1998 Wi ley-Liss, Inc.