Korean J Obstet Gynecol.  2005 Sep;48(9):2217-2222.

A Case of the Type I Thanatophoric Dysplasia Diagnosed in the 2nd Trimester

Affiliations
  • 1Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University Hospital, Seoul, Korea. sangwon65@hanmail.net

Abstract

Skeletal dysplasias, a heterogenous group of bone growth disorders including thanatophoric dysplasia can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In order to specify diagnosis, radiological, pathological and molecular genetic examination are often required. Our report describes a case of the type I thanatophoric dysplasia diagnosed specifically and terminated in the 2nd trimester.

Keyword

Prenatal ultrasound examination; Type I thanatophoric dysplasia

MeSH Terms

Bone Development
Diagnosis
Molecular Biology
Prognosis
Thanatophoric Dysplasia*
Ultrasonography
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