Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system.
We describe in this paper a patient with brachytelephalangic chondrodysplasia punctata (BCDP) who has multiple serious medical problems and striking physical abnormalities. These include cervical spine stenosis with resultant quadriplegia, severe nasal hypoplasia, and brachytelephalangy. Radiographs taken shortly after birth demonstrated extensive epiphyseal and vertebral stippling, and distal phalangeal hypoplasia. The pregnancy was complicated by maternal intestinal obstruction due to a small bowel carcinoma and probable malabsorption. The severity of the phenotype in this case may have been influenced by these maternal factors particularly vitamin K deficiency.
Eash
Delaina D
DD
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA. deash@genetics.uchicago.edu
Weaver
David D
DD
Brunetti-Pierri
Nicola
N
D002806:Chondrodysplasia Punctata / Q000145:classification / Q000000981:diagnostic imaging / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011859:Radiography; D013130:Spinal Stenosis / Q000000981:diagnostic imaging / Q000503:physiopathology*; D014813:Vitamin K Deficiency / Q000000981:diagnostic imaging / Q000503:physiopathology*