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Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia.

Identifieur interne : 002672 ( PubMed/Curation ); précédent : 002671; suivant : 002673

Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia.

Auteurs : Gary N. Mcabee [États-Unis] ; Anne Marie Santilli ; Jennifer Stone ; Rhonda E. Schnur

Source :

RBID : pubmed:21481749

Descripteurs français

English descriptors

Abstract

A new syndrome of the major form of hyperekplexia with neonatal onset is described. An infant manifested multisystem involvement with ectodermal anomalies, including lymphedema and double eyelashes (lymphedema-distichiasis syndrome), genitourinary anomalies, and skeletal dysplasia. Despite extensive genetic evaluation, no cytogenetic or molecular etiologies were identified. The literature was reviewed to assess other unusual neurologic and nonneurologic features that have been reported in association with neonatal-onset hyperekplexia-that is, hyperekplexia-plus syndromes.

DOI: 10.1016/j.pediatrneurol.2010.12.006
PubMed: 21481749

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Le document en format XML

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