The neurology of rhizomelic chondrodysplasia punctata
نویسندگان
چکیده
منابع مشابه
The neurology of rhizomelic chondrodysplasia punctata
BACKGROUND To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis is the main biochemical feature. METHODS Observational study including review of clinical and bioc...
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...
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 کامل[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 ...
متن کاملRhizomelic chondrodysplasia punctata ( RCDP ) : A case report
RCDP is a rare autosomal recessively inherited skeletal dysplasia characterized by rhizomelia, ichthyosis, seizures, repeated infections, congenital cataracts and joint contractures. Radiological features include epiphyseal stippling, metaphyseal abnormalities and clefts in vertebral bodies. We report a case of RDCP in a neonate because of its rarity.
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2013
ISSN: 1750-1172
DOI: 10.1186/1750-1172-8-174