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Case Reports
. 2001 Mar;24(3):228-31.
doi: 10.1016/s0887-8994(00)00261-7.

IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia

Affiliations
Case Reports

IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia

H Bibas-Bonet et al. Pediatr Neurol. 2001 Mar.

Abstract

Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.

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