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

Research output: Contribution to journalArticle

44 Scopus citations

Abstract

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
Volume38
Issue number2
DOIs
StatePublished - Aug 1990

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports'. Together they form a unique fingerprint.

  • Cite this