title: Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.
abstract: We describe 4 girls with Shprintzen-Goldberg syndrome. Skeletal abnormalities common to 3 of them include bowing of long bones (with a variable degree of progression over time), flare of the metaphyses, a large anterior fontanel with persistent patency into the second to fourth years of life, 13 pairs of ribs, distinct vertebral abnormalities which were absent neonatally but evolved by the second year of life, and progressive osteopenia. These abnormalities were generalized and, in one case, progressive over the first few years of life. Communicating hydrocephalus was present in all 4 cases. The eldest, an 11-year-old girl, had additional anomalies not reported previously in this syndrome, including intestinal malrotation, an anteriorly placed anus, and mild cerebral atrophy. This is the first detailed report of skeletal manifestations in this rare disorder of unknown cause. These cases, in conjunction with a review of the literature, suggest that skeletal abnormalities are common in Shprintzen-Goldberg syndrome.
authors.affiliation: Department of Medical Genetics and Epidemiology, Women's and Children's Hospital, North Adelaide, Australia.
authors.forename: L C
authors.initials: LC
authors.lastname: Adès
authors.forename: L L
authors.initials: LL
authors.lastname: Morris
authors.forename: R G
authors.initials: RG
authors.lastname: Power
authors.forename: M
authors.initials: M
authors.lastname: Wilson
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: J F
authors.initials: JF
authors.lastname: Bateman
authors.forename: D M
authors.initials: DM
authors.lastname: Milewicz
authors.forename: D O
authors.initials: DO
authors.lastname: Sillence
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography