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 Weaver, Nicola Brunetti-Pierri

Research output: Contribution to journalArticle

21 Citations (Scopus)

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

Fingerprint

Chondrodysplasia Punctata
Vitamin K Deficiency
Fetal Diseases
Pathologic Constriction
Spine
Mothers
Quadriplegia
Intestinal Obstruction
Nose
Parturition
Carcinoma
Phenotype
Pregnancy

Keywords

  • Brachytelephalangy
  • Phalangeal hypoplasia
  • Synovial carcinoma

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. / Eash, Delaina D.; Weaver, David; Brunetti-Pierri, Nicola.

In: American Journal of Medical Genetics, Vol. 122 A, No. 1, 15.09.2003, p. 70-75.

Research output: Contribution to journalArticle

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