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Year : 2013  |  Volume : 2  |  Issue : 4  |  Page : 275-277

Case report of Thanatophoric dysplasia: A lethal skeletal dysplasia

Department of Pathology, Katuri Medical College, Guntur, Andhra Pradesh, India

Correspondence Address:
Neelima Tirumalasetti
c/o Ch.Venkat Rao, Door No: 5-54-80, 6/18, Brodipet, Guntur - 522 002, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-8632.122168

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Skeletal dysplasias constitute a heterogeneous group of bone growth disorders resulting in abnormal shape and size of the skeleton. Thanatophoric dysplasia (TD) is one of the rare, lethal osteochondrodysplasia. A 28-year-old, healthy, non-consanguineously married woman with history of one previous abortion was brought to the hospital at 26 weeks of gestation for antenatal evaluation. Ultrasound examination showed a single live fetus with biparietal diameter corresponding to 26 weeks of gestation. Femur, humerus, and other long bones were very short with femoral length corresponding to 16-18 weeks. The thoracic cavity was small and irregular. Based on these findings, a diagnosis of lethal bony dysplasia was offered. Medical termination of pregnancy was performed at 28 weeks of gestation. Post mortem autopsy and radiological examination confirmed the diagnosis. This case report emphasizes the need into the insight regarding the problem of congenital malformations and their early prenatal diagnosis, which will aid in an alternative option of termination of pregnancy when an affected fetus is detected. Genetic counseling and evaluation of the prognosis on the basis of molecular results should be considered an important issue.

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