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

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.

• Authors: Helga V Toriello, Miriam Erick, Jean-Luc Alessandri, Diana Bailey, Nicola Brunetti-Pierri, Helen Cox, Alan Fryer, Denise Marty, Charles McCurdy, John B Mulliken, Helen Murphy, Joseph Omlor, Richard M Pauli, Judith D Ranells, Amarillis Sanchez-Valle, Ana Tobiasz, Lionel Van Maldergem, Angela E Lin
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 3 Pg. 417-29 (Mar 2013) ISSN: 1552-4833 [Electronic] United States
• PMID: 23404932 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Wiley Periodicals, Inc.

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Chondrodysplasia Punctata (diagnosis, etiology)
• Crohn Disease (complications)
• Female
• Fetal Diseases (diagnosis, etiology)
• Humans
• Hyperemesis Gravidarum (complications)
• Infant
• Male
• Pregnancy
• Vitamin K Deficiency (complications)