title: Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.
abstract: 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.
authors.affiliation: Department of Pediatrics, Musashino Red Cross Hospital, Tokyo, Japan. kumada.wataru@mua.biglobe.ne.jp
authors.forename: S
authors.initials: S
authors.lastname: Kumada
authors.forename: M
authors.initials: M
authors.lastname: Hayashi
authors.forename: J
authors.initials: J
authors.lastname: Kenmochi
authors.forename: S
authors.initials: S
authors.lastname: Kurosawa
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: L E
authors.initials: LE
authors.lastname: Kratz
authors.forename: R I
authors.initials: RI
authors.lastname: Kelley
authors.forename: K
authors.initials: K
authors.lastname: Taki
authors.forename: M
authors.initials: M
authors.lastname: Okaniwa
mesh_terms: D002114:Calcinosis / Q000473:pathology; D002675:Child, Preschool; D002784:Cholesterol / Q000096:biosynthesis*; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000378:metabolism / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D010955:Plasmalogens / Q000096:biosynthesis*
chemical_list: D010955:Plasmalogens; D002784:Cholesterol