title: Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum.
abstract: We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. The baby had, in addition, agenesis of the corpus callosum. This feature has not been reported in either of these syndromes. It is possible that this baby has a previously undescribed syndrome.
authors.affiliation: Department of Paediatrics, FMHS, UAE University, Al Ain. algazali@hotmail.com
authors.forename: L I
authors.initials: LI
authors.lastname: Al-Gazali
authors.forename: M
authors.initials: M
authors.lastname: Bakir
authors.forename: Z M
authors.initials: ZM
authors.lastname: Hamid
authors.forename: R
authors.initials: R
authors.lastname: Nath
authors.forename: D
authors.initials: D
authors.lastname: Haas
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D001842:Bone and Bones / Q000002:abnormalities*; D003025:Clubfoot / Q000473:pathology*; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D020547:Lateral Ventricles / Q000002:abnormalities / Q000000981:diagnostic imaging; D014463:Ultrasonography