Severe phenotype of X‐linked dominant chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.

An infant with the characteristic phenotype of classical rhizomelic chondrodysplasia punctata was found to have an isolated deficiency of the peroxisomal enzyme acyl CoA dihydroxyacetone phosphate acyltransferase (DHAP-AT). All other peroxisomal functions measured were found to be normal. Previously described in one other case report, this confirms the existence of another distinct form of pero...

Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.

H ydrops-ectopic calcification-motheaten (HEM) skeletal dysplasia is a rare lethal autosomal recessive skeletal dysplasia which is also known as Greenberg dysplasia. There are currently only seven published cases. X linked dominant chondrodysplasia punctata (Conradi–Hünermann syndrome) mainly affects females and is characterised by aberrant punctate calcification of cartilage or stippling of th...

X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.

Chondrodysplasia punctata represents clinically and genetically a heterogeneous group of disorders characterized by the presence of multiple congenital anomalies and stippled epiphyses. We present clinical course of the disease and the results of metabolic, X-ray and molecular analyses in 19-months old girl with X-linked dominant chondrodysplasia punctata with intrauterine growth retardation, c...

Chondrodysplasia punctata: case report with dental findings.

Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis

We report on a child with the brachytelephalangic type of chondrodysplasia punctata, a very rare form of the disease. At birth, the patient was originally diagnosed with the Conradi-Hunermann type, a more common and severe type. A pediatric radiologist questioned the diagnosis and followed up with the patient, who is now three years old. Based on the clinical and radiographic findings, it was c...