Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
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.
Pavone
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Clinica Pediatrica, Divisione di Neurologia Pediatrica, Universita' di Catania, Italy.
Rizzo
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R
Pavone
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Curatolo
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Dobyns
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WB
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002828:Choristoma / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000473:pathology*; D003398:Craniosynostoses / Q000473:pathology*; D003456:Cryptorchidism / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology*; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009457:Neuroglia / Q000473:pathology