title: Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
abstract: A new type of osteodysplastic primordial dwarfism is delineated in a 5-year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.
authors.affiliation: Istituto Materno-Infantile Università di Palermo, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Corsello
authors.forename: A
authors.initials: A
authors.lastname: Albanese
authors.forename: M
authors.initials: M
authors.lastname: Piccione
authors.forename: M
authors.initials: M
authors.lastname: Giuffrè
authors.forename: J M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000000981:diagnostic imaging; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D011859:Radiography