Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients

J Med Genet. 1993 Apr;30(4):319-21. doi: 10.1136/jmg.30.4.319.

Abstract

Two profoundly mentally retarded, unrelated males are reported with an unidentified multiple congenital anomaly/mental retardation syndrome, including early balding, patella luxations, small hands and feet, and hypogonadism, similar to a previous publication in this journal of a severely mentally retarded male patient with dysmorphic features.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alopecia / genetics
  • Facial Bones / abnormalities*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Muscles / pathology
  • Patella / abnormalities
  • Skull / abnormalities*
  • Syndrome