Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia

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...

Rhizomelic Chondrodysplasia Punctata Type I

Rhizomelic Chondrodysplasia Punctata Type I is one of the rare peroxisome disorders. We report the case of a newborn white male that developed seizures and skeletal dysmorphism. The baby had short humerus bones with stippled epiphyses, consistent with the disease. He had also delay in myelinization on brain MRI with bilateral subependymal cysts over the atria and frontal horns of the lateral ve...

Chondrodysplasia punctata: case report with dental findings.

Rhizomelic Chondrodysplasia Punctata

The rhizomelic form of chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized biochemically by an impairment of plasmalogen biosynthesis and phytanate catabolism. We have now found that the maturation of peroxisomal 3-oxoacyl-CoA thiolase is impaired in fibroblasts from RCDP patients. To establish the subcellular localization of the 3-oxoacylCoA thiolase precursor protein, cul...

[Rhizomelic chondrodysplasia punctata - case report].

OBJECTIVE To report a case of rhizomelic chondrodysplasia punctata and present a brief literature review. DESCRIPTION The authors report the case of a 52-day-old child presenting the main findings of the syndrome: rhizomelic micromelia, characteristic facies, suction difficulty and anthropometric measures below the expected indexes for his age. Skeletal radiographies showed humeri and femora ...