title: A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
abstract: We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy Radiology Department, Great Ormond Street Hospital and Institute of Child Health, London, UK.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Rossi
authors.forename: Daniele
authors.initials: D
authors.lastname: De Brasi
authors.forename: Christine M
authors.initials: CM
authors.lastname: Hall
authors.forename: Antonella
authors.initials: A
authors.lastname: Battagliese
authors.forename: Daniela
authors.initials: D
authors.lastname: Melis
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Sebastio
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
mesh_terms: D000328:Adult; D001827:Body Height; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*