Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia

Am J Med Genet. 1993 Nov 15;47(7):1086-91. doi: 10.1002/ajmg.1320470731.


Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991) in their report of a patient with apparent manifestations of both AT-I and Boomerang dysplasia. We report on a male fetus of 31 weeks gestation whose clinical, radiologic and histologic findings are compared to reported cases of AT-I, Boomerang dysplasia and the patient of Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991). From the documentation of clinical and radiologic findings we demonstrate overlap of AT-I and Boomerang dysplasia in our patient, and, from histologic examination, suggest a defect of cartilage and bone formation as the basic abnormality in this lethal bone dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Female
  • Genes, Dominant
  • Genes, Lethal
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Pregnancy
  • Puberty, Precocious / genetics
  • Ultrasonography, Prenatal