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

Abstract

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.

• Authors: M T Greally, T Jewett, W L Smith Jr, G D Penick, R A Williamson
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 47 Issue 7 Pg. 1086-91 (Nov 15 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8291529 (Publication Type: Case Reports, Journal Article)

Topics

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