Prenatal diagnosis of boomerang dysplasia.

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.

• Authors: Marja W Wessels, Nicolette S Den Hollander, Ronald R De Krijger, Luisa Bonifé, Andrea Superti-Furga, Peter G Nikkels, Patrick J Willems
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 122A Issue 2 Pg. 148-54 (Oct 01 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12955767 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Topics

• Bone Diseases, Developmental (diagnostic imaging, pathology)
• Female
• Fetal Death
• Genes, Lethal
• Gestational Age
• Humans
• Pregnancy
• Prenatal Diagnosis
• Radiography
• Ultrasonography, Prenatal