title: Thanatophoric dysplasia type I with syndactyly.
abstract: We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs in several craniosynostosis syndromes due to mutations in FGFR2. We conclude that mutations in FGFR3 may also be associated with developmental abnormalities due to interference with programmed cell death.
authors.affiliation: Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, UCLA School of Medicine, Los Angeles, California, USA.
authors.forename: S G
authors.initials: SG
authors.lastname: Brodie
authors.forename: H
authors.initials: H
authors.lastname: Kitoh
authors.forename: M
authors.initials: M
authors.lastname: Lipson
authors.forename: M
authors.initials: M
authors.lastname: Sifry-Platt
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
mesh_terms: D003545:Cysteine / Q000235:genetics*; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D014443:Tyrosine / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D014443:Tyrosine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D003545:Cysteine