Prevalence of lethal osteochondrodysplasias in Denmark.

Abstract

The point prevalence at birth of lethal osteochondrodysplasias in a subregion of Denmark was estimated by a study of all children born January 1970 through December 1983. Two cases of thanatophoric dysplasia, one case of thanatophoric dysplasia with cloverleaf skull, two cases of micromelic bone dysplasia with cloverleaf skull, two cases of achondrogenesis type III, and three cases of achondrogenesis type IV were found. Two cases were unclassifiable due to lack of radiographs. In total, the point prevalence at birth was 15.4 per 100,000. Thus lethal osteochondrodysplasias seem to be more common than is generally assumed. The clinical and radiographic findings in micromelic bone dysplasia with cloverleaf skull are discussed in relation to thanatophoric dysplasia and achondrogenesis type IV.

• Authors: P E Andersen Jr
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 32 Issue 4 Pg. 484-9 (Apr 1989) ISSN: 0148-7299 [Print] United States
• PMID: 2789000 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnostic imaging, epidemiology, mortality)
• Cross-Sectional Studies
• Denmark
• Genes, Recessive
• Humans
• Infant, Newborn
• Male
• Osteochondrodysplasias (congenital, diagnostic imaging, epidemiology, mortality)
• Radiography
• Skull (abnormalities, diagnostic imaging)
• Thanatophoric Dysplasia (diagnostic imaging, epidemiology, mortality)