Key result
A newly identified autosomal recessive syndrome presents with late infantile myotonia, mild to moderate mental retardation, severe vertebral abnormalities, and short stature in four siblings.
Describes a novel autosomal recessive syndrome distinct from Schwartz-Jampel syndrome.
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May aid differential diagnosis of myotonic syndromes; leaves open the causative gene and natural history.
Four sibs of non-consanguineous parents who had myotonia from late infancy are described. Mild to moderate mental retardation, severe bone abnormalities of the vertebral column (mainly in the thoracolumbar region), and short stature were also observed. Autosomal recessive inheritance is demonstrated. These cases are compared with reported cases of the Schwartz-Jampel syndrome.
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Richieri‐Costa et al. (1984) studied this question. A newly identified autosomal recessive syndrome presents with late infantile myotonia, mild to moderate mental retardation, severe vertebral abnormalities, and short stature in four siblings.
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