title: A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum?
abstract: The case of a 20-week fetus is reported with almost completely deficient ossification of the vertebral bodies and absent ossification of several long bones. This could be a unique skeletal dysplasia or the most severe end of the atelosteogenesis spectrum.
authors.affiliation: Regional Clinical Genetics Service, Royal Liverpool University Hospital, Liverpool L69 3BX, UK.
authors.forename: A E
authors.initials: AE
authors.lastname: Fryer
authors.forename: H
authors.initials: H
authors.lastname: Carty
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005865:Gestational Age; D006801:Humans; D007866:Leg / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D011247:Pregnancy; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal