chondrodysplasia


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Related to chondrodysplasia: Chondrodysplasia punctata

chondrodysplasia

[¦kän·drō·də ′splā·zhə]
(medicine)
References in periodicals archive ?
Abbreviations: CG: complementation group; CHO: Chinese hamster ovary; DHAP-ATase: dihydroxyacetonephosphate acyltransferase; DLP1: dynamin-like protein 1; IRD: infantile Refsum disease; NALD: neonatal adrenoleukodystrophy; PBD: peroxisome biogenesis disorder; PMP: peroxisomal integral membrane protein; PTS: peroxisome-targeting signal; RCDP: rhizomelic chondrodysplasia punctata; ZS: Zellweger syndrome.
In this article, we report a case of a 4-year-old boy with CAH and Schmid metaphyseal chondrodysplasia.
We present another family that showed typical symptoms of Grebetype chondrodysplasia which segregated with a mutation in CDMP1.
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.
Charlotte had rhizomelic chondrodysplasia punctata (RCP) - a rare condition that causes short limbs, bone abnormalities and restricted growth.
However, for Refsum disease, the total clinical picture is required because phytanic acid also accumulates in persons with Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondrodysplasia punctata type 1 (26).
What few people realize, however, is that rates at the high end are confined to chondrodysplasia punctata, the most common manifestation of warfarin embryopathy.
Schmid-like metaphyseal chondrodysplasia simulating child abuse.
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder of peroxisomal metabolism with an estimated incidence of 1:1, 00, 000.
Cystic transformation of the pancreas has also been described in a variety of congenital syndromes (187) including Ivemark syndrome, trisomy 13 or 15, Meckel-Gruber syndrome, Elejalde syndrome, glutaric aciduria, chondrodysplasia, short-rib polydactyly syndrome (Jeune syndrome and Saldino-Noonan type), (188) and others with no specific name.

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