Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Pediatr Neurol ; 44(5): 381-4, 2011 May.
Article in English | MEDLINE | ID: mdl-21481749

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.


Subject(s)
Bone and Bones/abnormalities , Ectoderm/abnormalities , Movement Disorders/complications , Urogenital Abnormalities/complications , Brain/abnormalities , Brain/pathology , Humans , Infant , Male , Reflex, Startle/physiology , Skeleton , Tomography, X-Ray Computed
SELECTION OF CITATIONS
SEARCH DETAIL
...