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1: Am J Med Genet A. 2003 Oct 1;122A(2):148-54.Click here to read Links

Prenatal diagnosis of boomerang dysplasia.

Wessels MW, Den Hollander NS, De Krijger RR, Bonifé L, Superti-Furga A, Nikkels PG, Willems PJ.

Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands. m.w.wessels@erasmus.nl

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. Copyright 2003 Wiley-Liss, Inc.

PMID: 12955767 [PubMed - indexed for MEDLINE]