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, Jonathan (Jon) Zonana, A. Moser

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients from a literature review who 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
StatePublished - 1990

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Rhizomelic Chondrodysplasia Punctata
Survival
Enchondromatosis
Peroxisomal Disorders
Otitis Media
Pneumonia
Seizures
Growth

Keywords

  • Autosomal recessive inheritance
  • Bone dysplasia
  • Chondrodysplasia punctata-rhizomelic form
  • Lethal short-limb dwarfism
  • Peroxisomal disorder
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Wardinsky, T. D., Pagon, R. A., Powell, B. R., McGillivray, B., Stephan, M., Zonana, J. J., & Moser, A. (1990). Rhizomelic chondrodysplasia punctata and survival beyond one year: A review of the literature and five case reports. Clinical Genetics, 38(2), 84-93.

Rhizomelic chondrodysplasia punctata and survival beyond one year : A review of the literature and five case reports. / Wardinsky, T. D.; Pagon, R. A.; Powell, B. R.; McGillivray, B.; Stephan, M.; Zonana, Jonathan (Jon); Moser, A.

In: Clinical Genetics, Vol. 38, No. 2, 1990, p. 84-93.

Research output: Contribution to journalArticle

Wardinsky, TD, Pagon, RA, Powell, BR, McGillivray, B, Stephan, M, Zonana, JJ & Moser, A 1990, 'Rhizomelic chondrodysplasia punctata and survival beyond one year: A review of the literature and five case reports', Clinical Genetics, vol. 38, no. 2, pp. 84-93.
Wardinsky, T. D. ; Pagon, R. A. ; Powell, B. R. ; McGillivray, B. ; Stephan, M. ; Zonana, Jonathan (Jon) ; Moser, A. / Rhizomelic chondrodysplasia punctata and survival beyond one year : A review of the literature and five case reports. In: Clinical Genetics. 1990 ; Vol. 38, No. 2. pp. 84-93.
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