A severely affected female infant with X-linked dominant chondrodysplasia punctata: A case report and a brief review of the literature

Dinesh Rakheja, Charles P. Read, David Hull, Richard L. Boriack, Charles F Timmons

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

We recently performed an autopsy on a premature female newborn with rhizomesoacromelic limb shortening of the upper and lower extremities, craniofacial dysmorphism, and chondrodysplasia punctata. A diagnosis of Conradi-Hunermann-Happle syndrome or X-linked dominant chondrodysplasia punctata was made based on elevated cholest-8(9)-ene-3β-ol in serum and tissues. Molecular analysis of EBP, mutations of which are responsible for this malformation syndrome, revealed a monoallelic missense mutation, c.328 G>A (R110Q). We present this case as an illustration of an unusually severe manifestation of this disorder in a female, with additional unusual features including lack of skin manifestations and apparent bilateral symmetry of the skeletal findings.

Original languageEnglish (US)
Pages (from-to)142-148
Number of pages7
JournalPediatric and Developmental Pathology
Volume10
Issue number2
DOIs
StatePublished - Mar 1 2007

Keywords

  • 3β-hydroxysteroid Δ
  • Conradi-Hunermann-Happle syndrome
  • Emopamil-binding protein
  • X-linked dominant chondrodysplasia punctata
  • Δ-isomerase

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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