The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. This is one of a group of disorders characterized by craniosynostosis and marfanoid features. The aim of this study was to present a new sporadic case of the syndrome and describe in detail the findings at the maxillofacial region.
AdachiM.TachibanaK.AsakuraY.SuwaS.NishimuraG.A male patient presenting with major clinical symptoms of glycocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.Endocr J.1999; 46: 285–292.
2.
AdesL.C.MorrisL.L.PowerR.G.WilsonM.HaanE.A.BatemanJ.F.MilewiczD.M.SillenceD.O.Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.Am J Med Genet.1995; 57: 565–572.
3.
BrooksA.S.BreuningM.H.OsingaJ.vd SmagtJ.J.CatsmanC.E.BuysC.H.MeijersC.HofstraR.M.A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).J Med Genet.1999; 36: 485–489.
4.
CohenM.M.Jr. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability and new syndrome updating. In: O'DonnellJ.J.HallB.D., ed. Penetrance and Variability in Malformation Syndromes.New York: Alan R Liss, Inc, for the National Foundation-March of Dimes. BD: OAS. 1979; XV(5B): 13–63.
5.
CohenM.M.Jr. Craniosynostosis update.Am J Med Genet.1988; 4(suppl): 99–148.
6.
GorlinR.J.CohenM.M.HennekamR.Syndromes of the Head and Neck. 4th ed.New York: Oxford;2001: 696–703.
7.
GreallyM.CareyJ.MilewizM.HudginsL.GoldbergR.ShprintzenR.CousineauA.SmithW.JudischF.HansonJ.Shprintzen-Goldberg syndrome, a clinical analysis.Am J Med Genet.1998; 76: 202–212.
8.
HatchwellE.Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11.J Pediatr.1997; 131: 164–165.
9.
HaywardC.BrockD.J.Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.Hum Mutat.1997; 10: 415–423.
10.
JoyceD.A.MastagliaF.L.OjedaV.J.SpagnotoD.V.Familial myopathy associated with Marfanoid features and multicores.Aust N Z J Med.1984; 14: 495–499.
LeeY.C.WilsonC.J.WinshipI.M.VealeA.G.Marfanoid habitus, dysmorphic features, and web neck.South Med J.2000; 9: 1197–1200.
13.
McNamaraJ.A.A method of cephalometric evaluation.Am J Orthod.1984; 86: 449–69.
14.
MilewiczD.M.UrbanZ.BoydC.Genetic disorders of the elastic fiber system.Matrix Biol.2000; 19: 471–480.
15.
RickettsR.M.RothR.H.ChaconasS.J.SchulhofR.J.EngelG.A.Orthodontic Diagnosis and Planning. Vol 1. Denver, CO: Rocky Mountain Data Systems; 1982: 107–147.
16.
SaalH.M.BulasD.I.AllenJ.F.VezinaL.G.WaltonD.RosenbaumK.N.Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull.Am J Med Genet.1995; 57: 573–578.
17.
SeemanovaE.KozlowskiK.Shprintzen-Goldberg syndrome, a case report.Radiol Med.1997; 94: 673–675.
18.
ShprintzenR.J.GoldbergR.B.A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias.J Craniofac Genet Dev Biol.1982; 2: 65–74.
19.
SoodS.EldadahZ.A.KrauseW.L.McIntoshI.DietzH.C.Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.Nat Genet.1996; 12: 209–211.