Prenatal diagnosis of boomerang dysplasia.
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.
Wessels
Marja W
MW
Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands. m.w.wessels@erasmus.nl
Den Hollander
Nicolette S
NS
De Krijger
Ronald R
RR
Bonifé
Luisa
L
Superti-Furga
Andrea
A
Nikkels
Peter G
PG
Willems
Patrick J
PJ
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D005313:Fetal Death; D005804:Genes, Lethal; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D016216:Ultrasonography, Prenatal