In:
Journal of Child Neurology, SAGE Publications, Vol. 15, No. 7 ( 2000-07), p. 493-495
Abstract:
We report an infant boy with an apparently new malformation syndrome. The major anomalies showed by the patient include diffuse polymicrogyria, congenital hydrocephalus, craniosynostosis with severe scaphocephaly, severe mental retardation, intractable epilepsy, and minor facial and genital anomalies. Our review of the literature and two computerized dysmorphology databases found some papers reporting polymicrogyria or lissencephaly associated with craniosynostosis or hydrocephalus. None of the reported patients had a phenotype similar to that of our patient. (J Child Neurol 2000;15:493-495).
Type of Medium:
Online Resource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/088307380001500715
Language:
English
Publisher:
SAGE Publications
Publication Date:
2000
detail.hit.zdb_id:
2068710-2
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