Hande ÖZKALAYCI, Esra ATAMAN, MURAT CELİLOĞLU, ERDENER ÖZER, AYFER ÜLGENALP, MURAT DERYA ERÇAL, Elçin BORA

Prenatal dönemde saptanan Tanatoforik Displazi olgusu

Tanatoforik displazi, genelde perinatal dönemde ölümle sonuçlanan ve kısa ekstremiteler ile kendini gösteren yenidoğanın cücelik sendromlarından biridir. Makrosefali, belirgin alın, dar toraks, vertebralarda düzleşme, ekstremitelerde kısalık, femurda eğrilme ile karakterizedir. Fibroblast büyüme faktörü reseptörü 3 (FGFR3) genindeki mutasyonlardan kaynaklanır ve otozomal dominant kalıtım modeli gösterir. Bu makalede, prenatal dönemde anormal USG bulguları olan, amniyosentez materyalinden yapılan FGFR3 gen analizi ile p.R248C mutasyonu saptanan bir olgu anlatılmıştır.

Anahtar Kelimeler:

Tanatoforik Displazi, Fibroblast Büyüme Faktörü, FGFR3 Geni, Prenatal Tanı

Thanatophoric Dysplasia Detected During Prenatal Period

Thanatophoric dysplasia is one of the newborn’s dwarfism syndromes usually resulting in death during perinatal period and manifesting as short extremities. It is characterized by macrocephaly, prominent forehead, narrow thorax, short extremities, flattened vertebral bodies, curved femurs. This is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene and shows autosomal dominant inheritance model. In this report, we presented a case with abnormal USG findings during perinatal period and detected to carry a p.R248C mutation in FGFR3 gene in amniosynthesis fluid.

Keywords:

Thanatophoric Dysplasia; Fibroblast Growth Factor; FGFR3 Gene; Prenatal Diagnosis,

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