The authors declare that they have no relevant conflicts of interest.
Article first published online: 12 FEB 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 3, pages 417–429, March 2013
How to Cite
Toriello, H. V., Erick, M., Alessandri, J.-L., Bailey, D., Brunetti-Pierri, N., Cox, H., Fryer, A., Marty, D., McCurdy, C., Mulliken, J. B., Murphy, H., Omlor, J., Pauli, R. M., Ranells, J. D., Sanchez-Valle, A., Tobiasz, A., Van Maldergem, L. and Lin, A. E. (2013), Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease. Am. J. Med. Genet., 161: 417–429. doi: 10.1002/ajmg.a.35765
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.
- Issue published online: 21 FEB 2013
- Article first published online: 12 FEB 2013
- Manuscript Accepted: 15 OCT 2012
- Manuscript Received: 4 JUN 2012
- Binder phenotype;
- chondrodysplasia punctata;
- maxillonasal dysplasia;
- vitamin K deficiency;
- warfarin embryopathy phenocopy
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.