Severe phenotype of X-linked dominant chondrodysplasia punctata
نویسندگان
چکیده
منابع مشابه
Severe phenotype of X‐linked dominant chondrodysplasia punctata
A prenatally ascertained case representing the more severe end of the X-linked dominant chondrodysplasia punctata (CDPX2).
متن کاملGreenberg 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...
متن کاملX-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...
متن کاملRhizomelic 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...
متن کاملRhizomelic 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...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2017
ISSN: 2050-0904
DOI: 10.1002/ccr3.1008