Additional case of craniofacial and digital anomalies as reported by Harrod et al

Am J Med Genet. 1996 Jan 11;61(2):168-70. doi: 10.1002/(SICI)1096-8628(19960111)61:2<168::AID-AJMG13>3.0.CO;2-S.

Abstract

In 1977 Harrod et al. [BD:OAS XIII (3B): 111-115] reported 2 brothers with an unusual syndrome of mental retardation, unusual facial appearance, large protruding ears, arachnodactyly, hypogenitalism, failure to thrive, and minor anomalies. We report on a 46-year-old man with striking resemblance to the children described by Harrod who also has secondary megacolon and varicose veins, suggesting a connective tissue disorder.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Connective Tissue Diseases / diagnosis
  • Connective Tissue Diseases / genetics
  • Ear / abnormalities
  • Facial Bones / abnormalities
  • Facies
  • Fingers / abnormalities
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Male
  • Megacolon / diagnosis
  • Middle Aged
  • Toes / abnormalities