Denouement and Discussion
Schwartz-Jampel Syndrome (Aberfeld Syndrome, Chondrodystrophic Myotonia)
Major manifestations include a classical facial appearance, blepharophimosis, short stature, myotonia, and hip dysplasia. They usually appear after 2 years of age. The facial characteristics consist of a relatively small, flattened and expressionless face; small, pinched and constricted mouth; small chin with skin indentations or grooves; blepharophimosis with contracted orbicularis oculi oris muscles resulting in short, narrow palpebral fissures; and ptosis, microcornea, myopia, cataracts, and distichiasis (extra rows of eyelashes). The muscular hypertrophy is usually followed by atrophy. Coxa vara deformity of the femoral head with hip dysplasia is a consistent finding. Other skeletal deformities include pectus carinatum, kyphoscoliosis, hypoplastic femoral epiphyses, and joint contractures. Intelligence is usually normal.This syndrome should be differentiated from craniocarpotarsal dystrophy (whistling face syndrome), myotonia congenita, and myotonic dystrophy.
The Schwartz-Jampel syndrome is inherited as an autosomal-recessive trait with a 25% probability of recurrence with each pregnancy.
The life span of