title: Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype.
abstract: Shprintzen and Goldberg [1979] described a new autosomal dominant syndrome characterized by omphalocele, scoliosis, pharyngeal and laryngeal hypoplasia, mild dysmorphic face, and learning disabilities. This condition was described in a father and three daughters, one of whom died in infancy, probably of airway narrowing. Here, we report on a second observation of this syndrome in a 6-year-old patient. In our case, omphalocele, imperforate anus, and feeding impairment were the main clinical problems in the neonatal period. Scoliosis appeared during the fourth year of age. The facial appearance is similar to the original patients and additional clinical findings are described which expand the phenotypic spectrum.
authors.affiliation: Medical Genetics Service, IRCCS "CSS" Hospital, San Giovanni Rotondo (Fg), Italy. zelante@operapadrepio.it
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.forename: Michele
authors.initials: M
authors.lastname: Germano
authors.forename: Michele
authors.initials: M
authors.lastname: Sacco
authors.forename: Savino
authors.initials: S
authors.lastname: Calvano
mesh_terms: D001006:Anus, Imperforate / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005145:Face / Q000002:abnormalities*; D019959:Feeding and Eating Disorders of Childhood / Q000235:genetics / Q000473:pathology; D005799:Genes, Dominant; D006554:Hernia, Umbilical / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities*; D008297:Male; D010614:Pharynx / Q000002:abnormalities*; D010641:Phenotype; D012600:Scoliosis / Q000235:genetics* / Q000473:pathology; D013577:Syndrome