[Schwartz-Jampel syndrome. Orthopedic and neurological problems of chondrodystrophic myotonia].
This report deals with two brothers suffering from chondrodystrophic myotomy (Schwartz-Jampel syndrome), and presents, through the study of these cases, the orthopedic and neurological problems presented by this condition. In the case of our patients there is no confirmation of the stunted growth mentioned in other reports, nor are there any changes in the vertebral column. In contrast to cases reported to date, pathologically high sero-enzyme amounts were found in both children. The congenital changes in the hip joints worsen during the pre-puberty phase, so that in one case bilateral adduction contraction and in the other complete bilateral dislocation of the hip joints resulted. Early orthopedic treatment to prevent later irreparable consequences is recommended.
D000135:Acid Phosphatase / Q000097:blood; D000293:Adolescent; D002648:Child; D002802:Cholinesterases / Q000097:blood; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging; D003300:Copper / Q000097:blood; D003402:Creatine Kinase / Q000097:blood; D006618:Hip Dislocation, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008297:Male; D009222:Myotonia / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics*; D011859:Radiography; D013577:Syndrome
D003300:Copper; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase; D002802:Cholinesterases; D000135:Acid Phosphatase
Das Schwartz--Jampel-Syndrom. Orthopädische und neurologische Probleme der chondrodystrophen Myotonie.