title: Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.
abstract: We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.
authors.affiliation: First Medical Department, Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, Hanusch Hospital Vienna, Austria ; Paediatric Department, Orthopaedic Hospital of Speising Vienna, Austria.
authors.forename: Ali Al
authors.initials: AA
authors.lastname: Kaissi
authors.affiliation: Department of Pediatric and Neonatology, Klagenfurt Clinic Klagenfurt, Austria.
authors.forename: Raimund
authors.initials: R
authors.lastname: Kraschl
authors.affiliation: Department of Pediatric and Neonatology, Klagenfurt Clinic Klagenfurt, Austria.
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Kaulfersch
authors.affiliation: Paediatric Department, Orthopaedic Hospital of Speising Vienna, Austria.
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
authors.affiliation: Paediatric Department, Orthopaedic Hospital of Speising Vienna, Austria.
authors.forename: Rudolf
authors.initials: R
authors.lastname: Ganger
keywords: Extended phenotype; FLNA gene Mutation; oto-palato-digital type II; skeletal changes