title: Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.
abstract: We present a second family with survival to adulthood and dominant transmission of the Torrance-Luton type of platyspondylic chondrodysplasia, and demonstrate the radiographs at different ages together with radiographs and further data of the first family which was published in the Journal of Pediatrics (J Pediatr 136:411-413). Two families are described with survival to adulthood and dominant transmission of the Torrance-Luton type of platyspondylic chondrodysplasia. Although lethality is increased in patients with this disorder, mild expressions of the genetic defect are compatible with survival into adulthood. The heterogeneous group of platyspondylic lethal skeletal dysplasias (PLSD) originally included thanatophoric dysplasias (TD1/2: MIM 187600, 187100) as the most common forms of this condition, as well as TD variants San Diego type (PLSD-SD: MIM 270230) and Torrance-Luton type (PLSD-TL: MIM 151210). Fibroblast growth factor receptor 3 ( FGFR3) gene mutations have been detected in TD1/2 and PLSD-SD. Molecular studies in one of our two families with the Torrance-Luton type did not disclose mutations in the FGFR3 coding region, suggesting that this type of platyspondylic chondrodysplasia is not a thanatophoric dysplasia variant. In contrast to TD1/2 and PLD-SD, the Torrance-Luton type platyspondylic dysplasia is compatible with survival to adulthood.
authors.affiliation: Institute of Human Genetics and Children's Hospital, Charité Campus, Humboldt University, Augustenburger Platz 1, 13353, Berlin, Germany. luitgard.neumann@charite.de
authors.forename: Luitgard
authors.initials: L
authors.lastname: Neumann
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kunze
authors.forename: Markus
authors.initials: M
authors.lastname: Uhl
authors.forename: Brigitte
authors.initials: B
authors.lastname: Stöver
authors.forename: Bernhard
authors.initials: B
authors.lastname: Zabel
authors.forename: Jürgen
authors.initials: J
authors.lastname: Spranger
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000145:classification / Q000000981:diagnostic imaging* / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000145:classification
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors