title: [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].
abstract: A case of chondrodysplasia punctata (CDP) a mild form of Conradi-Huenermann type in a male newborn is presented. CDP is a bone dysplasia with the hallmark of stippling of the epiphyses. Although stippling of the epiphyses can be seen in several disorders and syndromes such as Zellweger sy., trisomy 21 sy., trisomy 18 sy., fetal alcohol syndrome, following ingestion of warfarin or phenytoin during pregnancy, the term describes a group of different clinical features involving the bones, skin and eyes with different inheritance transmission: autosomal dominant type, autosomal recessive type, X-linked dominant type, X-linked recessive type with deletion of terminal short arm, duplication of short arm of chromosome 16. The rhizomelic form of CDP is considered a peroxisomal disorder, due to reduced activity of some enzymes: DHAP-AT, phytanic acid oxidase, alkil DHAP synthase. The Conradi-Huenermann syndrome has also been considered by some authors as a peroxisomal disorder. A brief description of these disorders and their classification in groups will follow.
authors.affiliation: Divisione Pediatrica, Ospedale Generale Provinciale di Merano, Bolzano.
authors.forename: E
authors.initials: E
authors.lastname: Omobono
authors.forename: W
authors.initials: W
authors.lastname: Goetsch
mesh_terms: D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
vernacular_title: Condrodisplasia punctata (sindrome di Conradi Huenermann). Descrizione di un caso clinico e revisione della letteratura.