Abstract: A new case of metatropic dysplasia in a 2.5 month old child is presented. Diagnoses was made in base of special face, long thorax, shortness of extremities with restricted joint mobility, kyphoscoliosis and a caudal appendage overlying the sacrum. Radiologically, expanded and irregular metaphyses of shortened tubular bones, platyspondyly and kyphoscoliosis. With growth, patients develop changes in body proportions. This syndrome is transmitted as an autosomal recessive. Prevention by genetic counseling is the principal measure.
Publication Year: 1987
Publication Date: 1987-07-01
Language: en
Type: article
Indexed In: ['pubmed']
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