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achondroplasia

achondroplasia (a-kon-dro-pla´ze-a) [MIM*100800]

A type of chondrodystrophy characterized by an abnormality in conversion of cartilage into bone, predominantly affecting long bones, in which epiphysial growth is retarded and ceases early, resulting in dwarfism apparent at birth, with short extremities but normal trunk; the head may be enlarged, the effect being exaggerated by midfacial hypoplasia; stenosis at the foramen magnum and the spinal column commonly cause compression and neurological compromise; autosomal dominant inheritance. [G. a- priv. + chondros, cartilage, + plasis, a molding]
avian a. an autosomal dominant a. seen in several breeds of domestic chickens.
bovine a. bulldog calf
homozygous a. severe a. affecting progeny of two achondroplastic parents; usually fatal in the first year of life.

 

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