Somatic development in cleidocranial dysplasia

Am J Med Genet. 1990 Jan;35(1):69-74. doi: 10.1002/ajmg.1320350113.


As part of a more comprehensive investigation of general and craniofacial development in cleidocranial dysplasia (CCD), the present study describes general somatic development and analyzes longitudinal growth of 17 patients (seven males, ten females, aged 5-46 years) with CCD. Eleven were followed longitudinally. Data included family history, anthropometric measurements, and radiographs of the right hand and forearm. Height and radius length were significantly decreased, being most pronounced in females. The longitudinal growth data showed growth retardation and slightly retarded skeletal maturity throughout childhood. Metacarpophalangeal pattern profile analysis demonstrated great variation in bone lengths, presumably resulting from extra epiphyses in the 2nd and 5th metacarpals and from multiple cone-shaped epiphyses. Findings of the present study support the view that CCD is a generalized skeletal dysplasia.

MeSH terms

  • Adolescent
  • Adult
  • Anthropometry
  • Bone Development*
  • Child
  • Child, Preschool
  • Cleidocranial Dysplasia / diagnostic imaging
  • Cleidocranial Dysplasia / physiopathology*
  • Female
  • Humans
  • Male
  • Metacarpus / abnormalities
  • Metacarpus / diagnostic imaging
  • Middle Aged
  • Pedigree
  • Radiography