Korean J Obstet Gynecol.  1998 Feb;41(2):607-611.

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

• Lee YM
• Kim JW
• Lee WH
• Cha KS
• Choi YJ
• Kwon KW

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.

Keyword

Monozygotic twin; Thanatophoric dysplasia; Micromelia

MeSH Terms

Autopsy
Diagnosis
Humans
Male
Pregnancy
Prenatal Diagnosis*
Ribs
Skull
Thanatophoric Dysplasia*
Thorax
Twins, Monozygotic*