Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system

Delaina D. Eash, David D. Weaver, Nicola Brunetti-Pierri

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)70-75
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume122 A
Issue number1
DOIs
StatePublished - Sep 15 2003

Keywords

  • Brachytelephalangy
  • Phalangeal hypoplasia
  • Synovial carcinoma

ASJC Scopus subject areas

  • Genetics(clinical)

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