chondrodystrophy

(redirected from chondrodysplasia)
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Related to chondrodysplasia: Chondrodysplasia punctata
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Synonyms for chondrodystrophy

References in periodicals archive ?
1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
Metaphyseal irregularity was suggestive of Schmid metaphyseal chondrodysplasia (Figure 2).
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.
A genome wide association study and fine mapping for Chondrodysplasia of Texel sheep.
Cartilage hair hypoplasia (CHH) or metaphyseal chondrodysplasia was first described among Old Order Amish by McKusick et al.
DISCUSSION: Chondrodysplasia punctata (CDP) is a rarely occurring skeletal dysplasia characterized by stippled, punctate calcifications around joints and within cartilages.
AO-II is a lethal chondrodysplasia caused by collapse of the airways, resulting from abnormalities in the tracheal, laryncheal, and bronchial cartilage.
Similarly, children with Blomstrand syndrome, a congenital chondrodysplasia due to nonfunctioning PTHrP receptors (Jobert et al.
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.
Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochon dral bone formation.
Warfarin may inhibit arylsulfatase enzyme activity, the cause of X-linked recessive chondrodysplasia punctata, which has a phenotype identical to warfarin embryopathy.
org 1,2,3,6,8 CHEDIAK HIGASHI SYNDROME See: Hermansky-Pudlak Syndrome CHEMKE SYNDROME See: Hydrocephalus; Lissencephaly CHIARI MALFORMATION See: Arnold-Chiari Malformation CHILD SYNDROME See: Ichthyosis CHOLESTATIS WITH PERIPHERAL PULMONARY STENOSIS See: Alagille Syndrome CHOLESTERYL ESTER STORAGE DISEASE See: Tay-Sachs Disease CHONDRODYSPLASIA PUNCTATA See: Growth Disorders; Ichthyosis CHORIONIC VILLUS SAMPLING, RELATED DISABILITIES See also: Limb Disorders CVS Parent Network Support Group 15706 Reynolds Ln.
Differential diagnosis of TD includes homozygous achondroplasia, achondrogenesis, captomelic dwarfism, chondrodysplasia punctata, severe hypophosphatasia and severe osteogenesis imperfecta.
org 1,2,3,4,6,8 CHEDIAK HIGASHI SYNDROME See: Hermansky-Pudlak Syndrome CHEMKE SYNDROME See: Hydrocephalus; Lissencephaly CHIARI MALFORMATION See: Arnold-Chiari Malformation CHILD SYNDROME See: Ichthyosis CHOLESTATIS WITH PERIPHERAL PULMONARY STENOSIS See: Alagille Syndrome CHOLESTERYL ESTER STORAGE DISEASE See: Tay-Sachs Disease CHONDRODYSPLASIA PUNCTATA See: Growth Disorders; Ichthyosis CHORIONIC VILLUS SAMPLING, RELATED DISABILITIES See also: Limb Disorders CVS Parent Network Support Group 15706 Reynolds Ln.
It is also referred to by additional names such as, osteogenic disease, chondral osteogenic dysplasia, chondral osteoma, dyschondroplasia, deforming chondrodysplasia, multiple hereditary osteochondromata, multiple cartilaginous exostoses or simply exostotic dysplasia (1).
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