Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia.
Identifieur interne : 004F67 ( Main/Merge ); précédent : 004F66; suivant : 004F68Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia.
Auteurs : Gary N. Mcabee [États-Unis] ; Anne Marie Santilli ; Jennifer Stone ; Rhonda E. SchnurSource :
- Pediatric neurology [ 1873-5150 ] ; 2011.
Descripteurs français
- KwdFr :
- MESH :
- anatomopathologie : Encéphale.
- malformations : Ectoderme, Encéphale, Os et tissu osseux.
- physiologie : Réflexe de sursaut.
- Humains, Malformations urogénitales, Mâle, Nourrisson, Squelette, Tomodensitométrie, Troubles de la motricité.
English descriptors
- KwdEn :
- MESH :
- abnormalities : Bone and Bones, Brain, Ectoderm.
- complications : Movement Disorders, Urogenital Abnormalities.
- pathology : Brain.
- physiology : Reflex, Startle.
- Humans, Infant, Male, Skeleton, Tomography, X-Ray Computed.
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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pubmed:21481749Le document en format XML
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Schnur</name></author></analytic><series><title level="j">Pediatric neurology</title><idno type="eISSN">1873-5150</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bone and Bones (abnormalities)</term><term>Brain (abnormalities)</term><term>Brain (pathology)</term><term>Ectoderm (abnormalities)</term><term>Humans</term><term>Infant</term><term>Male</term><term>Movement Disorders (complications)</term><term>Reflex, Startle (physiology)</term><term>Skeleton</term><term>Tomography, X-Ray Computed</term><term>Urogenital Abnormalities (complications)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Ectoderme (malformations)</term><term>Encéphale (anatomopathologie)</term><term>Encéphale (malformations)</term><term>Humains</term><term>Malformations urogénitales ()</term><term>Mâle</term><term>Nourrisson</term><term>Os et tissu osseux (malformations)</term><term>Réflexe de sursaut (physiologie)</term><term>Squelette</term><term>Tomodensitométrie</term><term>Troubles de la motricité ()</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Bone and Bones</term><term>Brain</term><term>Ectoderm</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Encéphale</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Movement Disorders</term><term>Urogenital Abnormalities</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Ectoderme</term><term>Encéphale</term><term>Os et tissu osseux</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Réflexe de sursaut</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Reflex, Startle</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Infant</term><term>Male</term><term>Skeleton</term><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Malformations urogénitales</term><term>Mâle</term><term>Nourrisson</term><term>Squelette</term><term>Tomodensitométrie</term><term>Troubles de la motricité</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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