Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance

Am J Med Genet. 1994 Jan 15;49(2):247-50. doi: 10.1002/ajmg.1320490218.


We describe a brother and sister from one family and a girl from a second, unrelated family; they have a syndrome of pre- and post-natal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae. We think this is a new syndrome probably inherited as an autosomal recessive trait.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Developmental Disabilities*
  • Face / abnormalities*
  • Facial Expression
  • Female
  • Fetal Growth Retardation
  • Growth Disorders*
  • Hair / abnormalities
  • Humans
  • Infant, Newborn
  • Male
  • Personality
  • Syndrome