title: Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs.
abstract: We report on a male infant with Brachmann-de Lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS.
authors.affiliation: Institut für Humangenetik der Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: J
authors.initials: J
authors.lastname: Correll
mesh_terms: D002675:Child, Preschool; D003635:De Lange Syndrome / Q000175:diagnosis / Q000473:pathology*; D004480:Ectromelia / Q000473:pathology*; D005269:Femur / Q000002:abnormalities; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010641:Phenotype; D013977:Tibia / Q000002:abnormalities; D014457:Ulna / Q000002:abnormalities