BRIEF CLINICAL REPORT - CRANIOFACIAL DYSSYNOSTOSIS - A FURTHER CASE-REPORT

Authors
Citation
Jev. Morton, BRIEF CLINICAL REPORT - CRANIOFACIAL DYSSYNOSTOSIS - A FURTHER CASE-REPORT, American journal of medical genetics, 79(1), 1998, pp. 8-11
Citations number
5
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
79
Issue
1
Year of publication
1998
Pages
8 - 11
Database
ISI
SICI code
0148-7299(1998)79:1<8:BCR-CD>2.0.ZU;2-C
Abstract
I describe a boy with lambdoid craniosynostosis, severe global develop mental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosu m, and minor anomalies, The phenotype is in keeping with a diagnosis o f craniofacial dyssynostosis. This autosomal recessive condition was f irst described in 1976 and was originally predicted to be relatively c ommon in those of Spanish descent. However, there have been no further reports of the condition, This case is remarkably similar to those pr eviously described, but has the additional finding of a neuronal migra tion defect, (C) 1998 Wiley-Liss, Inc.