A Case of Thanatophoric Dysplasia in Monozygotic Twin: Prenatal Diagnosis, Clinical, Radiological and Pathological Findings.

Lee, Y M; Kim, J W; Lee, W H; Cha, K S; Choi, Y J; Kwon, K W

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Korean Journal of Obstetrics & Gynecology 1998;41(2):607-611.
Published online January 1, 2001.

A Case of Thanatophoric Dysplasia in Monozygotic Twin: Prenatal Diagnosis, Clinical, Radiological and Pathological Findings.

Y M Lee, J W Kim, W H Lee, K S Cha, Y J Choi, K W Kwon

Abstract

We present male monozygotic twin with thanatophoric dysplasia type I concordant for long bone abnormalities and narrow thorax without cloverleaf skull. The diagnosis was made at 21weeks 3days` gestation. Prenatal diagnosis and postmortem examination showed severe micromelia, bowed long bones with ""telephone-receiver"" shapes and narrow thorax with short ribs in both twin. Finally it was confirmed by radiologic and pathologic examinations. The case will be presented in more details with a brief review of literature.

Key Words: Monozygotic twin, Thanatophoric dysplasia, Micromelia

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