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Journals / Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi / 2019 / Cilt: 33 - Sayı: 3

A Newborn Case Diagnosed with Thanatophoric Dysplasia Type 1

Tanatoforik Displazi Tip 1 Tanısı Konulan Bir Yenidoğan Olgusu

Mustafa AYDIN
Petek Uzay ÇETİNKAYA
Nilay HAKAN
Pages
191–194
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Thanatophoric dysplasia should be considered in the differential diagnosis of cases with skeletal dysplasia.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Thanatophoric dysplasia is a lethal skeletal dysplasia manifested by short extremities which is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.
📊
Key Findings & Data:Herein, we present a case of thanatophoric dysplasia type 1 diagnosed by typical clinical and radiological findings, and FGFR3 gene analysis.
💡
Conclusion & Impact:Thanatophoric dysplasia should be considered in the differential diagnosis of cases with skeletal dysplasia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Thanatophoric dysplasia is a lethal skeletal dysplasia manifested by short extremities which is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Characteristically, macrocephaly, narrow thorax, flattening in the vertebrae, bowing in the femur with short and flat extremities is seen. Herein, we present a case of thanatophoric dysplasia type 1 diagnosed by typical clinical and radiological findings, and FGFR3 gene analysis. The patient born at the 34th gestational week with a 2160 g birth weight was found to have macrocephaly, marked forehead, narrow thorax, curved and short extremities on physical examination. Skeletal X-rays showed platyspondyly in the vertebral corpus, short ribs and short long tubular bones. Molecular genetic analysis revealed a heterozygous p.R248C (c.742C> T) mutation in the FGFR3 gene exon 7. Thanatophoric dysplasia should be considered in the differential diagnosis of cases with skeletal dysplasia.

Özet

Tanatoforik displazi, fibroblast büyüme faktörü reseptörü 3 (FGFR3) genindeki mutasyonun neden olduğu, kısa ekstremiteler ile kendini gösteren letal bir iskelet displazisi tablosudur. Karakteristik olarak makrosefali, dar toraks yapısı, vertebralarda düzleşme, kısa ve yassı ekstremiteler ile femurda eğrilme görülür. Burada tipik klinik ve radyolojik bulguları yanında FGFR3 gen analizi ile tanatoforik displazi tip 1 tanısı konulan bir olgu sunulmuştur. 34. gebelik haftasında 2160 g ağırlığında doğan olgunun fizik muayenesinde makrosefali, belirgin alın, dar göğüs kafesi, eğri ve kısa ekstremiteleri vardı. İskelet grafilerinde vertebra korpuslarında platispondili, kısa kostalar ve kısa uzun tübüler kemikler vardı. Moleküler genetik analizde FGFR3 geni ekzon 7’de heterozigot p.R248C (c.742C>T) mutasyonu saptandı. İskelet displazisi bulguları olan olguların ayırıcı tanısında tanatoforik displazi de düşünülmelidir. FGFR3 gen analizi yapıldıktan sonra aileye genetik danışmanlık verilmelidir.

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Cite This Article

AYDIN, M., ÇETİNKAYA, P. U., HAKAN, N. (2022). A Newborn Case Diagnosed with Thanatophoric Dysplasia Type 1. Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi, Cilt: 33 - Sayı: 3, 191–194. https://ajindex.com/articles/650605

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