Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.
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.
Schild
R L
RL
Department of Obstetrics and Gynaecology, Luton and Dunstable Hospital NHS Trust, UK.
Hunt
G H
GH
Moore
J
J
Davies
H
H
Horwell
D H
DH
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