Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome

Clin Genet. 1990 Feb;37(2):111-6. doi: 10.1111/j.1399-0004.1990.tb03487.x.

Abstract

In this report we describe a distinct and apparently new mental retardation syndrome in four siblings: three brothers and one sister. They present slight to moderate mental retardation associated with a peculiar craniofacial dysmorphism (4/4), hypergonadotrophic hypogonadism (4/4), eunuchoid habitus (4/4), diabetes mellitus (4/4) and epilepsy (3/4).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Diabetes Mellitus, Type 1 / genetics*
  • Epilepsies, Partial / genetics
  • Epilepsy, Tonic-Clonic / genetics*
  • Facial Bones / abnormalities*
  • Female
  • Genetic Counseling
  • Humans
  • Hypogonadism / genetics*
  • Intellectual Disability / genetics*
  • Male
  • Seizures, Febrile / genetics
  • Skull / abnormalities*
  • Syndrome