Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

Autor:	S, Kumada, M, Hayashi, J, Kenmochi, S, Kurosawa, N, Shimozawa, L E, Kratz, R I, Kelley, K, Taki, M, Okaniwa
Rok vydání:	2001
Předmět:	Male Cholesterol Fatal Outcome Chondrodysplasia Punctata Rhizomelic Child Preschool Plasmalogens Calcinosis Humans Infant
Zdroj:	American journal of medical genetics. 98(3)
ISSN:	0148-7299
Popis:	We present a male autopsied case of chondrodysplasia punctata with abnormal face, symmetrical proximal limb shortness, severe psychomotor developmental delay, respiratory muscle weakness, and death at the age of 2 years. Although his clinical manifestations were similar to those of rhizomelic chondrodysplasia punctata (RCDP), biochemical studies using skin fibroblasts did not document the peroxisomal dysfunction described in RCDP. In addition, the sterol profile, for which abnormalities have recently been reported in cases of X-linked dominant form chondrodysplasia punctata (CDPX2), was normal both in the liver and in the fibroblasts. This patient may represent a new lethal form of chondrodysplasia punctata.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::0a229157d7a658e7eb6da30d7ae9346c https://pubmed.ncbi.nlm.nih.gov/11169563 Zobrazit plný text záznamu Plný text