title: 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: Genetic Services, Spectrum Health, Grand Rapids, Michigan, USA. toriello@msu.edu
authors: Helga V
authors: HV
authors: Toriello
authors: Miriam
authors: M
authors: Erick
authors: Jean-Luc
authors: JL
authors: Alessandri
authors: Diana
authors: D
authors: Bailey
authors: Nicola
authors: N
authors: Brunetti-Pierri
authors: Helen
authors: H
authors: Cox
authors: Alan
authors: A
authors: Fryer
authors: Denise
authors: D
authors: Marty
authors: Charles
authors: C
authors: McCurdy
authors: John B
authors: JB
authors: Mulliken
authors: Helen
authors: H
authors: Murphy
authors: Joseph
authors: J
authors: Omlor
authors: Richard M
authors: RM
authors: Pauli
authors: Judith D
authors: JD
authors: Ranells
authors: Amarillis
authors: A
authors: Sanchez-Valle
authors: Ana
authors: A
authors: Tobiasz
authors: Lionel
authors: L
authors: Van Maldergem
authors: Angela E
authors: AE
authors: Lin
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000209:etiology; D003424:Crohn Disease / Q000150:complications; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D006939:Hyperemesis Gravidarum / Q000150:complications*; D007223:Infant; D008297:Male; D011247:Pregnancy; D014813:Vitamin K Deficiency / Q000150:complications*