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Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease
Author(s) -
Toriello Helga V.,
Erick Miriam,
Alessandri JeanLuc,
Bailey Diana,
BrunettiPierri Nicola,
Cox Helen,
Fryer Alan,
Marty Denise,
McCurdy Charles,
Mulliken John B.,
Murphy Helen,
Omlor Joseph,
Pauli Richard M.,
Ranells Judith D.,
SanchezValle Amarillis,
Tobiasz Ana,
Van Maldergem Lionel,
Lin Angela E.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35765
Subject(s) - hyperemesis gravidarum , medicine , phenotype , hypoplasia , phalanx , chondrodysplasia punctata , disease , pregnancy , enamel hypoplasia , pathology , endocrinology , dermatology , physiology , pediatrics , anatomy , vomiting , genetics , dentistry , biology , enamel paint , gene
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. © 2013 Wiley Periodicals, Inc.