Thanatophoric dysplasia, an enigmatic dilemma: a case report

Authors

  • Chanda Rai Department of Obstetrics and Gynaecology, VMMC and Safdarjung Hospital, New Delhi, India
  • Harsha Shailesh Gaikwad Department of Obstetrics and Gynaecology, VMMC and Safdarjung Hospital, New Delhi, India
  • Harsha Shailesh Gaikwad Department of Obstetrics and Gynaecology, VMMC and Safdarjung Hospital, New Delhi, India
  • Sunil Kumar Bajaj Department of Radiology, VMMC and Safdarjung Hospital, New Delhi, India
  • Sunil Kumar Bajaj Department of Radiology, VMMC and Safdarjung Hospital, New Delhi, India
  • Rohini Gupta Department of Radiology, VMMC and Safdarjung Hospital, New Delhi, India
  • Rohini Gupta Department of Radiology, VMMC and Safdarjung Hospital, New Delhi, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20162682

Keywords:

Dysplasia, Skeleton, Pregnancy

Abstract

Thanatophoric dysplasia is a rare, fatal form of skeletal dysplasia that affects fetus in utero. It is characterized by marked underdevelopment of fetal skeleton and short limbs. This disorder can be diagnosed antenatally and the couple should be counselled for termination of pregnancy. 20 years old female came in her second trimester carrying an ultrasound report which showed features of thanatophoric dwarfism. She was advised to terminate her pregnancy but she decided to continue with her pregnancy. She was induced after 40 weeks and she delivered a stillborn baby with dwarf like features, a condition identified as thanatophoric dwarfism. Early diagnosis can be done by ultrasound as early as 13 weeks of gestation and since babies born with thanatophoric dysplasia have a very poor prognosis, couples should be counselled regarding early termination of pregnancy. 3D ultrasound scan and molecular analysis can also help identify this disorder.

References

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Published

2017-01-11

Issue

Section

Case Reports