Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports

T. D. Wardinsky, R. A. Pagon, B. R. Powell, B. McGillivray, M. Stephan, J. Zonana, A. Moser

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44 Scopus citations


Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1 year. In those patients that survive, there is a high association of spasticity, psychomotor retardation, growth failure, seizures, thermoregulatory instability, feeding difficulty, and recurrent otitis media and pneumonia. Three of our five patients had no radiographic evidence of vertebral body clefts, a finding which has previously been considered invariable in RCDP. Three of our patients had distinctive facies that differ from the classic Conradi‐Hunermann facies.

Original languageEnglish (US)
Pages (from-to)84-93
Number of pages10
JournalClinical Genetics
Issue number2
StatePublished - Aug 1990



  • autosomal recessive inheritance
  • bone dysplasia
  • chondrodysplasia punctata‐rhizomelic form
  • lethal short‐limb dwarfism
  • peroxisomal disorder
  • prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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