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Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India

Pratheep V1,2, Prakash Gambhir3, Soundharya V4

  • 1Pathology, LifeCell International Private Limited, Chennai, IND.

Cureus
|November 4, 2024
PubMed
Summary

Thanatophoric dysplasia (TD), a severe skeletal disorder, can present with hydronephrosis. Early second-trimester diagnosis via ultrasound and genetic testing is vital for management and counseling.

Keywords:
dwarfismdysmorphichydronephrosisrhizomeliathanatophoric dysplasia

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