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Journal of Child Neurology
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*Facial Injuries and Disorders
*Head and Brain Malformations
*Hydrocephalus
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Diffuse Polymicrogyria Associated With Congenital Hydrocephalus, Craniosynostosis, Severe Mental Retardation, and Minor Facial and Genital Anomalies

Lorenzo Pavone, MD

Clinica Pediatrica Divisione di Neurologia Pediatrica Universita' di Catania Catania, Italy

Renata Rizzo, MD

Clinica Pediatrica Divisione di Neurologia Pediatrica Universita' di Catania Catania, Italy

Piero Pavone, MD

Clinica Pediatrica Divisione di Neurologia Pediatrica Universita' di Catania Catania, Italy

Paolo Curatolo, MD

Neurologia Pediatrica Universita' Tor Vergata Rome, Italy

William Bill Dobyns, MD

Department of Human Genetics University of Chicago Chicago, Illinois

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).

Journal of Child Neurology, Vol. 15, No. 7, 493-495 (2000)
DOI: 10.1177/088307380001500715
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