title: Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations.
abstract: We describe a large family with 14 persons presenting macrosomia with or without mental retardation in which dominant transmission is evident over 4 generations. A wide range of phenotypic variability was observed, some patients showing macrosomia and mental impairment, others only macrosomia. The cases will be discussed in relationship with other conditions in which the 2 signs may be present, and above all in Sotos sequence.
authors.affiliation: Istituto di Scienze Neurologiche e Centro delle Neuro-Encefalo-Miopatie Genetiche dell'Universita' di Siena, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Mangano
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: F
authors.initials: F
authors.lastname: Moschini
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype