The Camera-Marugo-Cohen syndrome: report of two new patients

Am J Med Genet. 1999 Sep 17;86(3):208-14. doi: 10.1002/(sici)1096-8628(19990917)86:3<208::aid-ajmg3>3.0.co;2-h.

Abstract

This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, characteristic physiognomy, lordosis, and typical anomalies of hands and feet. These physical manifestations correspond to the Camera-Marugo-Cohen syndrome. Our patients represent the second and third cases of this condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Foot Deformities, Congenital / genetics
  • Hand Deformities, Congenital / genetics
  • Hormones / blood
  • Humans
  • Intellectual Disability / genetics*
  • Lordosis / genetics
  • Male
  • Obesity / genetics*
  • Syndrome

Substances

  • Hormones