title: Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.
abstract: Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects. All the cases with a mendelian inheritance are syndromic forms, which include cardiac defects (in Holt-Oram syndrome), bone marrow failure (in Fanconi anemia), platelet deficiency (in thrombocytopenia-absent-radius syndrome), ocular motility impairment (in Okihiro syndrome). The genetics of radial deficiencies is complex, characterized by genetic heterogeneity and high inter- and intra-familial clinical variability: this review will analyze the etiopathogenesis and the genotype/phenotype correlations of the main radial deficiency disorders in humans.
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy;
authors.forename: Amira
authors.initials: A
authors.lastname: Elmakky
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy;
authors.forename: Ilaria
authors.initials: I
authors.lastname: Stanghellini
authors.affiliation: Hand Surgery and Microsurgery, Department of Locomotor System Diseases, University Hospital of Modena, Modena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Landi
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy;
authors.forename: Antonio
authors.initials: A
authors.lastname: Percesepe
keywords: Congenital upper limb anomalies; Radial deficiency; Thumb hypoplasia