TY - JOUR
T1 - Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies
AU - Pavone, Lorenzo
AU - Rizzo, Renata
AU - Pavone, Piero
AU - Curatolo, Paolo
AU - Dobyns, William Bill
N1 - Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2000/7
Y1 - 2000/7
N2 - 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.
AB - 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.
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U2 - 10.1177/088307380001500715
DO - 10.1177/088307380001500715
M3 - Article
C2 - 10921525
AN - SCOPUS:0033925201
SN - 0883-0738
VL - 15
SP - 493
EP - 495
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 7
ER -