[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].

摘要: A case of chondrodysplasia punctata (CDP) a mild form Conradi-Huenermann type in male newborn is presented. CDP bone dysplasia with the hallmark stippling epiphyses. Although epiphyses can be seen several disorders and syndromes such as Zellweger sy., trisomy 21 18 fetal alcohol syndrome, following ingestion warfarin or phenytoin during pregnancy, term describes group different clinical features involving bones, skin eyes inheritance transmission: autosomal dominant type, recessive X-linked deletion terminal short arm, duplication arm chromosome 16. The rhizomelic considered peroxisomal disorder, due to reduced activity some enzymes: DHAP-AT, phytanic acid oxidase, alkil DHAP synthase. syndrome has also been by authors disorder. brief description these their classification groups will follow.