| Institution: | 1. Genetic Services, Spectrum Health, Grand Rapids, Michigan;2. Department of Pediatrics/Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan;3. Brigham & Women's Hospital, Center for Women and Newborns, Boston, Massachusetts;4. CHU de la Réunion, Service de Réanimation Néonatale None, Réunion, Naples, Italy;5. Department of Pediatrics, Federico II University of Naples, Naples, Italy;6. Telethon Institute of Genetics and Medicine, Naples, Italy;7. Birmingham Women's Hospital, West Midlands Regional Genetics Service, Birmingham, UK;8. Royal Liverpool Children's Hospital (Alder Hey), Liverpool, UK;9. Virginia Piper Cancer Institute of Unity Hospital, Fridley, Minnesota;10. Health Park Medical Center, Ft. Myers, Florida;11. Department of Plastic Surgery, The Children's Hospital, Boston, Massachusetts;12. Central Manchester University Hospital, Manchester, UK;13. College of Human Medicine, Michigan State University, Grand Rapids, Michigan;14. Genetics Center, Madison, Wisconsin;15. Department of Pediatrics, University of South Florida College of Medicine, Tampa, Florida;16. Institut de Pathologie et de Génétique, Centre de Génétique Humaine, Loverval, Belgium;17. Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts |
| 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. |
