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Prenatal diagnosis of boomerang dysplasia
Author(s) -
Wessels Marja W.,
Den Hollander Nicolette S.,
De Krijger Ronald R.,
Bonifé Luisa,
SupertiFurga Andrea,
Nikkels Peter G.,
Willems Patrick J.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20239
Subject(s) - ossification , dysplasia , medicine , skeleton (computer programming) , gestation , anatomy , pathology , pregnancy , biology , genetics
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.