Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia

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. T...

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Veröffentlicht in:Journal of medical genetics 1999-04, Vol.36 (4), p.330-332
Hauptverfasser: Odent, Sylvie, Loget, Philippe, Le Marec, Bernard, Delezoïde, Anne-Lise, Maroteaux, Pierre
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Sprache:eng
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Zusammenfassung: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.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.36.4.330