title: The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.
abstract: The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia. Psychomotor development is usually normal. The syndrome is caused by mutation/deletion of the X-linked gene GPC3. We describe a new case of SGBS, that led to the discovery of an extended family segregating a GPC3 mutation and, ultimately, of an affected relative forgotten, but not lost, in an anatomical museum, where he was classified as a macrosomic newborn, who was born probably around 1940 and died neonatally of unknown cause. This baby boy becomes the oldest case of SGBS on record.
authors.affiliation: Istituto di Genetica Medica, Università Cattolica del S. Cuore, Roma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Gurrieri
authors.forename: M G
authors.initials: MG
authors.lastname: Pomponi
authors.forename: R
authors.initials: R
authors.lastname: Pietrobono
authors.forename: E
authors.initials: E
authors.lastname: Lucci-Cordisco
authors.forename: E
authors.initials: E
authors.lastname: Silvestri
authors.forename: G
authors.initials: G
authors.lastname: Storniello
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics / Q000473:pathology; D001483:Base Sequence; D040181:Genetic Diseases, X-Linked; D005877:Gigantism / Q000235:genetics / Q000473:pathology; D053673:Glypicans / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009144:Museums; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: C105937:GPC3 protein, human; D053673:Glypicans