Pepper's syndrome

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An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism.

Description

An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism. Onset from birth. Etiology unknown. This syndrome presents characteristics in common with Prader-Willi and Laurence-Moon. Possibly autosomal recessive inheritance with variable expressivity. Over 100 patients had been reported by 1995.

Bibliography

  • W. Pepper:
    A study of congenital sarcoma of the liver and suprarenal, with report of a case.
    American Journal of the Medical Sciences, Thorofare, N.J., 1901, 121: 287-299.
  • M. M. Cohen:
    A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.
    Journal of Pediatrics, St. Louis, 1973, 83: 280-284.

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