title: A case of thanatophoric dysplasia type 2: a novel mutation.
abstract: Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously.
authors: Mersin University Faculty of Medicine, Department of Pediatrics, Mersin, Turkey. E-mail: selvigulasi@mynet.com.
authors: Selvi
authors: S
authors: Gülaşı
authors: Aytuğ
authors: A
authors: Atıcı
authors: Yalçın
authors: Y
authors: Çelik
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012886:Skull / Q000002:abnormalities* / Q000473:pathology; D013796:Thanatophoric Dysplasia / Q000235:genetics* / Q000473:pathology
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3