TY - JOUR
T1 - Rhizomelic chondrodysplasia punctata and survival beyond one year
T2 - a review of the literature and five case reports
AU - Wardinsky, T. D.
AU - Pagon, R. A.
AU - Powell, B. R.
AU - McGillivray, B.
AU - Stephan, M.
AU - Zonana, J.
AU - Moser, A.
PY - 1990/8
Y1 - 1990/8
N2 - 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.
AB - 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.
KW - autosomal recessive inheritance
KW - bone dysplasia
KW - chondrodysplasia punctata‐rhizomelic form
KW - lethal short‐limb dwarfism
KW - peroxisomal disorder
KW - prenatal diagnosis
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U2 - 10.1111/j.1399-0004.1990.tb03554.x
DO - 10.1111/j.1399-0004.1990.tb03554.x
M3 - Article
C2 - 2208770
AN - SCOPUS:0025375080
SN - 0009-9163
VL - 38
SP - 84
EP - 93
JO - Clinical Genetics
JF - Clinical Genetics
IS - 2
ER -