Pseudoachondroplasia

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

Platyspondyly

A flattened vertebral body shape with reduced distance between the vertebral endplates.


合計: 1

                       


（表示件数）
PMID (PMCID)
9632164
 MALE
Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)].
Ikegawa S, Ohashi H, Hosoda F, Fukushima Y, Ohki M, Nakamura Y.
Am J Med Genet. 1998;77(5):356-9.
Pseudoachondroplasia (PSACH) is a relatively common osteochondrodysplasia characterized clinically by short-limbed short stature with normal face, and radiographically by platyspondyly and dysplasias of epiphyses and metaphyses of the tubular bones.