A case of thanatophoric dysplasia type 2: a novel mutation

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 fibrob...

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Veröffentlicht in:Journal of clinical research in pediatric endocrinology 2015-03, Vol.7 (1), p.73-76
Hauptverfasser: Gülaşı, Selvi, Atıcı, Aytuğ, Çelik, Yalçın
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:1308-5727
1308-5735
DOI:10.4274/jcrpe.1703