Journal of Diagnostic Medical Sonography

 

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Journal of Diagnostic Medical Sonography, Vol. 10, No. 1, 24-27 (1994)
DOI: 10.1177/875647939401000106

Thanatophoric Dysplasia

A Case Study

Wendy Schade Griffis, RT(R)

Department of Radiology, UnixersitN of Nebraska Medical Center, Omaha, Nebraska.

A case of thanatophoric dysplasia was reported in the fetus of a 39-year-old woman. The diagnosis was made on ultrasound examination at 21 weeks of gestation, when shortened long bones, cloverleaf skull, and narrow thorax were observed. Due to the lethality of this type of dwarfism, the pregnancy was terminated. Routine ultrasound scanning proves to be an important part of early detection of various abnormalities such as those seen in thanatophoric dysplasia.

Key Words: thanatophoric dysplasia • skeletal dysplasia • dwarfism • fetal anomalies


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