Craniofacial dyssynostosis: a further case report.
I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosum, and minor anomalies. The phenotype is in keeping with a diagnosis of craniofacial dyssynostosis. This autosomal recessive condition was first described in 1976 and was originally predicted to be relatively common in those of Spanish descent. However, there have been no further reports of the condition. This case is remarkably similar to those previously described, but has the additional finding of a neuronal migration defect.
Morton
J E
JE
Clinical Genetics Unit, Birmingham Women's Hospital, United Kingdom.
D002648:Child; D003394:Craniofacial Dysostosis / Q000473:pathology*; D006801:Humans; D008297:Male