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

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...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-10, Vol.16 (10), p.e70842
Main Authors: V, Pratheep, Gambhir, Prakash, V, Soundharya
Format: Article
Language:English
Subjects:
Abdomen
Bladder
Case reports
Dwarfism
Fetuses
Genetic counseling
Hydronephrosis
Medical prognosis
Mutation
Pathology
Pediatrics
Pregnancy
Thorax
Ultrasonic imaging
Umbilical cord
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Summary: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 primigravida from rural southern India. Ultrasound findings included significantly short and curved long bones, leading to the termination of the pregnancy. A post-termination examination confirmed the presence of dysplastic bones, a large head, and hydronephrosis, with histopathological analysis revealing obstructive uropathy. This case underscores the rarity of TD with hydronephrosis and highlights the importance of early and accurate prenatal diagnosis through ultrasound and molecular testing. Despite the challenges in diagnosing TD, especially when additional anomalies are present, early detection in the second trimester can play a crucial role in guiding genetic counseling and management decisions.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.70842