Close
Close

Pagon Stephan syndrome

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

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

Clin Genet. 1990 Aug;38(2):84-93

Authors: Wardinsky TD, Pagon RA, Powell BR, McGillivray B, Stephan M, Zonana J, Moser A

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.

PMID: 2208770 [PubMed - indexed for MEDLINE]

Latest Research