title: Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.
abstract: A series of three cases is reported in which the diagnosis of thanatophoric dysplasia was reached at routine mid-trimester scanning in a District General Hospital. All three patients underwent termination of pregnancy with the diagnosis of thanatophoric dysplasia confirmed by postmortem radiographic and histological examinations. A review of the current literature on thanatophoric dysplasia is given, with special emphasis on the differentiation of the main types of thanatophoric dysplasia from other skeletal abnormalities.
authors.affiliation: Department of Obstetrics and Gynaecology, Luton and Dunstable Hospital NHS Trust, UK.
authors.forename: R L
authors.initials: RL
authors.lastname: Schild
authors.forename: G H
authors.initials: GH
authors.lastname: Hunt
authors.forename: J
authors.initials: J
authors.lastname: Moore
authors.forename: H
authors.initials: H
authors.lastname: Davies
authors.forename: D H
authors.initials: DH
authors.lastname: Horwell
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal