Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

Authors


  • The authors declare that they have no relevant conflicts of interest.

  • How to Cite this Article: Toriello HV, Erick M, Alessandri J-L, Bailey D, Brunetti-Pierri N, Cox H, Fryer A, Marty D, McCurdy C, Mulliken JB, Murphy H, Omlor J, Pauli RM, Ranells JD, Sanchez-Valle A, Van Maldergem L, Lin AE. 2013. Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease. Am J Med Genet Part A 161A: 417–429.

Abstract

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.

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