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Am J Med Genet A ; 161A(3): 417-29, 2013 Mar.
Article de Anglais | MEDLINE | ID: mdl-23404932

RÉSUMÉ

Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency.


Sujet(s)
Chondrodysplasie ponctuée/diagnostic , Maladies foetales/diagnostic , Hyperémèse gravidique/complications , Carence en vitamine K/complications , Adolescent , Adulte , Enfant , Enfant d'âge préscolaire , Chondrodysplasie ponctuée/étiologie , Maladie de Crohn/complications , Femelle , Maladies foetales/étiologie , Humains , Nourrisson , Mâle , Grossesse
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