Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family

Eur J Pediatr. 1976 Nov 3;123(4):269-76. doi: 10.1007/BF00444648.

Abstract

Mental retardation, hypogonadism, obesity, and abnormal blood sugar regulation were common findings in two siblings. In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent. Possible consideration was discussed.

MeSH terms

  • Adolescent
  • Child
  • Female
  • Humans
  • Hypogonadism / complications
  • Intellectual Disability / complications
  • Laurence-Moon Syndrome / complications
  • Laurence-Moon Syndrome / genetics*
  • Male
  • Obesity / complications
  • Pedigree
  • Prader-Willi Syndrome / complications
  • Prader-Willi Syndrome / genetics*