Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Prenatal diagnosis of boomerang dysplasia.
American journal of medical genetics. Part A
Publication types: Case Reports ; Journal Article
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.
Bone Diseases, Developmental/pathology, Bone Diseases, Developmental/radiography, Female, Fetal Death, Genes, Lethal, Gestational Age, Humans, Pregnancy, Prenatal Diagnosis, Ultrasonography, Prenatal
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