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Prenatal diagnosis of boomerang dysplasia

✍ Scribed by Marja W. Wessels; Nicolette S. Den Hollander; Ronald R. De Krijger; Luisa Bonifé; Andrea Superti-Furga; Peter G. Nikkels; Patrick J. Willems

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
276 KB
Volume
122A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang‐like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. © 2003 Wiley‐Liss, Inc.

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