Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India
Pratheep V,
Prakash Gambhir,
Soundharya V
Abstract:Thanatophoric dysplasia (TD) is a severe and typically fatal skeletal disorder caused by mutations in the FGFR3 gene, often leading to perinatal death. It is characterized by extreme short-limb dwarfism and, occasionally, associated anomalies such as hydronephrosis. Prenatal diagnosis, usually made in the third trimester through ultrasound and genetic testing, is crucial for guiding management decisions. Here, we report a case of TD with hydronephrosis diagnosed at 24 weeks of gestation in a 24-year-old primig… Show more
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