title: Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance.
abstract: In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). In this report, we describe a family in which two males, maternal half-brothers, had learning disabilities. Both patients also showed spasticity in the lower limbs and palmo-plantar hyperkeratosis. The mother of the affected boys had learning difficulties but did not show any dermatological symptoms. This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X-linked mode of inheritance.
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes, France. bertrand.isidor@chu-nantes.fr
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Tiphaine
authors.initials: T
authors.lastname: Lefebvre
authors.forename: Sébastien
authors.initials: S
authors.lastname: Barbarot
authors.forename: Julie
authors.initials: J
authors.lastname: Perrier
authors.forename: Sandra
authors.initials: S
authors.lastname: Mercier
authors.forename: Yann
authors.initials: Y
authors.lastname: Péréon
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Albert
authors.initials: A
authors.lastname: David
mesh_terms: D000328:Adult; D002648:Child; D055028:Comparative Genomic Hybridization; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics*; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010375:Pedigree; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*