![]() ![]() Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome).Īberfeld, D. Differentiation from Stuve-Wiedemann syndrome is important because STWS is associated with high mortality.Īberfeld, D. The authors concluded that SJS should be suspected in neonates with Kniest-like chondrodysplasia, congenital bowing of shortened femora and tibiae, and facial manifestations consisting of a small mouth, micrognathia, and possibly pursed lips. (2000) described 4 patients, previously described as examples of micromelic chondrodysplasia resembling Kniest dysplasia (Stevenson, 1982), kyphomelic dysplasia (see 211350), or Burton syndrome (see 245160), in whom further evaluation and linkage analysis supported the diagnosis of Schwartz-Jampel syndrome. SJS type 2 is manifest at birth with increased mortality and bone dysplasia resembling Pyle disease. SJS type 1B is similar to type 1A but recognizable at birth with more pronounced bone dysplasia resembling Kniest dysplasia (156550). The original descriptions of Schwartz and Jampel (1962) and Aberfeld et al. SJS type 1A is usually recognized in childhood and has moderate bone dysplasia. (1997) tentatively identified 3 types of SJS: type 1A, type 1B, and type 2 (601559), based on the clinical and radiologic findings of 81 patients reported in the literature as well as 5 of their own. This was said to be the first reported instance of identical twins with this disorder. Both patients also showed severe microcephaly and previously undescribed x-ray manifestations: a small skull, disproportion between skull and facial structures, and dysharmonic bone maturation. Minor physical differences were found in the affected toes and joints. (1997) described female monozygotic twins with Schwartz-Jampel syndrome. They suggested that the absence of myotonia may be more frequent than is suggested by the literature. Moodley and Moosa (1990) reported the syndrome in 3 South African children, 1 of whom did not have myotonia. (1978) also found EMG abnormalities in the mother of their 2 patients. (1974) found myotonic EMG abnormalities in both parents and a sib of their patients with SJS. The authors postulated a membrane defect with inability to maintain a proper gradient of sodium and potassium. Procainamide therapy helped muscle function. (1969) described affected brother and sister with abnormally low muscle potassium. (1969) described affected brother and sister with unrelated parents. The same sibs had previously been reported by Schwartz and Jampel (1962), who focused attention on the blepharophimosis. (1965) described brother and sister with an apparently progressive disorder characterized by short stature, myotonic myopathy, dystrophy of epiphyseal cartilages, joint contractures, blepharophimosis, unusual pinnae, myopia, and pigeon breast. ![]()
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