Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears

Am J Med Genet. 1988 Jan;29(1):107-15. doi: 10.1002/ajmg.1320290113.


We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Body Height
  • Bone and Bones / abnormalities*
  • Child, Preschool
  • Craniosynostoses / diagnosis*
  • Ear, External / abnormalities*
  • Humans
  • Infant, Newborn
  • Male
  • Syndrome