Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

S. Kumada, M. Hayashi, J. Kenmochi, S. Kurosawa, N. Shimozawa, Lisa E. Kratz, Richard Ian Kelley, K. Taki, M. Okaniwa

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


We present a male autopsied case of chondrodysplasia punctata with abnormal face, symmetrical proximal limb shortness, severe psychomotor developmental delay, respiratory muscle weakness, and death at the age of 2 years. Although his clinical manifestations were similar to those of rhizomelic chondrodysplasia punctata (RCDP), biochemical studies using skin fibroblasts did not document the peroxisomal dysfunction described in RCDP. In addition, the sterol profile, for which abnormalities have recently been reported in cases of X-linked dominant form chondrodysplasia punctata (CDPX2), was normal both in the liver and in the fibroblasts. This patient may represent a new lethal form of chondrodysplasia punctara.

Original languageEnglish (US)
Pages (from-to)250-255
Number of pages6
JournalAmerican journal of medical genetics
Issue number3
StatePublished - Jan 22 2001
Externally publishedYes


  • CDPX2
  • Calcific stippllng
  • Developmental delay
  • Fatality
  • Peroxisorne
  • Rhizomelic form

ASJC Scopus subject areas

  • Genetics(clinical)


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