Osteochondromuscular dystrophy (Schwartz-Jampel syndrome, chondrodystrophic myotonia)

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Osteochondromuscular (Schwartz- Jampel Chondrodystrophic

Dystrophy Syndrome, Myotonia)

By Robert J. Gorlin In 1962, Schwartz and Jampel described a syndrome characterized by growth retardation, multiple skeletal anomalies, myotonia, and unusual facies. The syndrome appears to be inherited as an autosomal recessive trait. Affected siblings have been described. The facies, essentially normal at birth, develops a progressive tonic contraction of facial muscles resulting in a pinched immobile mask with puckered lips, narrow palpebral fissures, and ptosis of the lids. The neck is short. The facies is usually clinically recognizable at 1-3 yr of age. Height is reduced below the 10th percentile. Limitation of motion at the hips is usually noted within the first 6 mo of life. Gait becomes waddling and progressively difficult due to stiff hips and knees. Pectus carinatum, acetabular dysplasia with fragmentation of femoral heads, and mild platyspondyly are usual features. Choking on cold liquids and mild muscular hypertrophy have been noted during early childhood. Weakness is not a prominent feature. Repetitive contracture decreases the myotonia. References:

1. Aberfeld DC, Namba T, Vye MC, et al: Arch Neurol 22;:455,1970 2. Mereu TR, et al: Am J Dis Child 117:470, 1969 3. Schwartz 0, Jampel RS: Arch Ophthal 68:52, 1962

Parastremmatic

Dwarfism

By Herbert J. Kaufmann There is severe dwarfism with kyphoscoliosis and distortion and bowing of the extremities. The large joints show contractures. There is uniform platyspondyly. The bones show decreased density and irregular enchondral ossification with calcific stippling in the epiphyses and metaphyses. Parastremmatic means twisted, and the patients certainly are. References:

1. Langer LO, Petersen D, Spranger J: Am J Roentgen01 110: 550,197o

Seminars

in Roentgenology,

Vol. VIII, No. 2 (April),

1973