Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia. Issue 4 (1st April 1999)

• Record Type: Journal Article
• Authors: Odent, Sylvie; Loget, Philippe; Le Marec, Bernard; Delezoïde, Anne-Lise; Maroteaux, Pierre
• Is Part Of: Journal of medical genetics. Volume 36:Issue 4(1999)
• Page Start: 330
• Page End: 332
• Publication Date: 1999-04-01
• Subjects: boomerang dysplasia -- atelosteogenesis -- lethal chondrodysplasia -- lethal dwarfism; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.36.4.330
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We report on a female fetus of 24 weeks whose clinical and radiological findings were compatible with boomerang dysplasia (BD). However, histopathology was unusual with a lateral fan shaped diaphyseal ossification. This has never been described either in typical atelosteogenesis I (AT-I) or in BD. The purpose of this report is to find out if this condition is a separate lethal bone dysplasia or another histological feature of the nosological group of AT-I and BD.