Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.

Schild, R L; Hunt, G H; Moore, J; Davies, H; Horwell, D H · Ultrasound Obstet Gynecol · 1996

case_series · Level IV

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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.

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