Craniotelencephalic dysplasia in sisters: further delineation of a possible syndrome.

Abstract

We describe two sisters with a complex of anomalies involving the cranium and brain. The changes in the former are consistent with those previously described as craniotelencephalic dysplasia and those in the latter indicate primary developmental abnormalities of the central nervous system including septo-optic dysplasia, absent olfactory nerves, agenesis of the corpus callosum, and lissencephaly. Per se, these cerebral malformations are causally heterogeneous, but their occurrence in association with craniotelencephalic dysplasia suggests that this combination is a distinct, probably autosomal recessive, syndrome.

• Authors: H E Hughes, D C Harwood-Nash, L E Becker
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 14 Issue 3 Pg. 557-65 (Mar 1983) ISSN: 0148-7299 [Print] United States
• PMID: 6859106 (Publication Type: Journal Article)

Topics

• Brain (abnormalities)
• Craniofacial Dysostosis (pathology)
• Craniosynostoses (pathology)
• Female
• Humans
• Infant, Newborn
• Pregnancy
• Skull (abnormalities)