Format

Send to

Choose Destination
Am J Med Genet A. 2003 Oct 1;122A(2):148-54.

Prenatal diagnosis of boomerang dysplasia.

Author information

1
Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands. m.w.wessels@erasmus.nl

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.

PMID:
12955767
DOI:
10.1002/ajmg.a.20239
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center