Rhizomelic chondrodysplasia punctata ( RCDP ) : A case report
نویسنده
چکیده
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.
منابع مشابه
Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group
Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of repotter-protein-encoding expression plasmids to show that perox...
متن کاملA Case of Rhizomelic Chondrodysplasia Punctata Complicated with Fetal Arrhythmia
Özet Rizomelik kondrodisplazi punktata (RCDP) ekstremitelerde proksimal kýsalýk, eklem kontraktürleri ve epifizlerde punktat kalsifikasyonlar ile katarakt, geliþme geriliði ve aðýr mental retardasyonla karakterize otozomal resesif kalýtýlan nadir görülen bir sendromdur. Bu yazýda sunulan yenidoðan olguya klinik, biyokimyasal ve radyolojik bulgular ile RCDP tanýsý konuldu. Olgu, RCDP de nadir g...
متن کاملNon-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.
Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of reporter-protein-encoding expression plasmids to show that perox...
متن کاملCranial MR imaging in rhizomelic chondrodysplasia punctata.
The rhizomelic form of chondrodysplasia punctata (RCDP) is a rare autosomal recessive disorder characterized by severe rhizomelic short-limb dwarfism, abnormal facies, psychomotor retardation, congenital cataracts, and joint contractures [1-4]. The condition is usually fatal within the first year of life, although a few patients have survived beyond infancy [1, 2]. We recently performed cranial...
متن کاملA Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. RCDP patients with the classic form of RCDP1 do not live more than 10- year. Materials and Methods In the present study, a two-year-old girl with skeletal abnormalities and dysmorphic facial appearance is reported to be suf...
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