Thanatophoric Dysplasia Detected During Prenatal Period

Year 2017, Volume: 31 Issue: 3, 181 - 186, 17.12.2017

Hande Özkalaycı Esra Ataman , Murat Celiloğlu Erdener Özer , Ayfer Ülgenalp , Derya Erçal Elçin Bora

Abstract

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

Prenatal dönemde saptanan Tanatoforik Displazi olgusu

Abstract

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.

Keywords

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

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