Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis

American Journal of Medical Genetics

Volumn 135 A, Issue 3, 2005, Pages 251-262

  Robinson, Peter N ^a   Neumann, Luitgard M ^a   Demuth, Stephanie ^b   Enders, Herbert ^c   Jung, Ursula ^d,l   König, Rainer ^e   Mitulla, Beate ^f   Müller, Dietmar ^g   Muschke, Petra ^h   Pfeiffer, Lutz ⁱ   Prager, Bettina ^j   Somer, Mirja ⁱ   Tinschert, Sigrid ^a,k  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Genetische Beratungsstelle   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d HELIOS KLINIKUM BERLIN BUCH   (Germany)

^e UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^f Humangenetische Beratungsstelle   (Germany)

^g KLINIKUM CHEMNITZ   (Germany)

^h OTTO VON GUERICKE UNIVERSITY   (Germany)

ⁱ Medizinzentrum Lichtenberg ^*  (Finland)

^j Gemeinschaftspraxis B Prager and A Junge   (Germany)

^k DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^l Praxis für Humangenetik Friedrichstrasse   (Germany)

more..

Author keywords

Craniosynostosis; Marfan syndrome; Marfanoid habitus; Shprintzen Goldberg syndrome

Indexed keywords

ADOLESCENT; ADULT; ARACHNODACTYLY; ARTICLE; CAMPTODACTYLY; CARDIOVASCULAR MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONNECTIVE TISSUE DISEASE; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DOWNWARD PALPEBRAL SLANT; EXTERNAL EAR MALFORMATION; FACIES; FEMALE; GERMANY; HIGH ARCHED PALATE; HUMAN; HYPERTELORISM; INGUINAL HERNIA; INTELLECTUAL IMPAIRMENT; JOINT HYPERMOBILITY; LOW SET EAR; MALE; MALFORMATION SYNDROME; MARFAN SYNDROME; MICROGNATHIA; MUSCLE HYPOTONIA; NERVOUS SYSTEM MALFORMATION; PIGEON THORAX; PRIORITY JOURNAL; SCOLIOSIS; SHPRINTZEN GOLDBERG SYNDROME; SKELETON MALFORMATION; UMBILICAL HERNIA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; EAR; HEART DEFECTS, CONGENITAL; HUMANS; KARYOTYPING; MALE; MARFAN SYNDROME; PALATE; SYNDROME;

EID: 19944363541     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30431     Document Type: Article

References (25)

1. Adès LC, Morris LL, Power RG, Wilson M, Haan EA, Bateman JF, Milewicz DM, Sillence DO. 1995. Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. Am J Med Genet 57:565-572.
2. Biggin A, Holman K, Brett M, Bennetts B, Adès L. 2004. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat 23:99.
3. Carson NAJ, Cusworth DC, Dent CE, Field CMB, Neill DW, Westall RG. 1963. Homocystinuria: A new inborn error of metabolism associated with mental deficiency. Arch Dis Child 38:425-436.
4. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. 1996. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417-426.
5. Furlong J, Kurczynski TW, Hennessy JR. 1987. New Marfanoid syndrome with craniosynostosis. Am J Med Genet 26:599-604.
6. Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW. 1998. Shprintzen-Goldberg syndrome: A clinical analysis. Am J Med Genet 76:202-212.
7. Hassed S, Shewmake K, Teo C, Curtis M, Cunniff C. 1997. Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. Am J Med Genet 70:450-453.
8. Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. 2002. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat 20:197-208.
9. Kosztolanyi G, Weisenbach J, Mehes K. 1995. Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation. Am J Med Genet 58:213-216.
10. Kozlowski K, Brown J, Hardwick R, Sillence D. 1992. A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies, and communicating hydrocephalus. Pediatr Radiol 22:328-330.
11. Lacombe D, Battin J. 1993. Marfanoid features and craniosynostosis: Report of one case and review. Clin Dysmorphol 2:220-224.
12. Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. 2001. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med 161:2447-2454.
13. Mégarbané A, Hokayem N. 1998. Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case. Am J Med Genet 77:170-171.
14. Nishimura G, Nagai T. 1996. Radiographic findings in Shprintzen-Goldberg syndrome. Pediatr Radiol 26:775-778.
15. Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. 2002. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 20:153-161.
16. Saal HM, Bulas DI, Allen JF, Vezina LG, Walton D, Rosenbaum KN. 1995. Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. Am J Med Genet 57:573-578.
17. Seemanova E, Kozlowski K. 1997. Shprintzen-Goldberg syndrome. A case report. Radiol Med (Torino) 94:673-675.
18. Shprintzen RJ, Goldberg RB. 1982. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol 2:65-74.
19. Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. 1996. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 12:209-211.
20. Stoll C. 2002. Shprintzen-Goldberg marfanoid syndrome: A case followed up for 24 years. Clin Dysmorphol 11:1-7.
21. Sugarman C, Vogel MW. 1981. Case report 76: Craniofacial and musculoskeletal abnormalities-a questionable connective tissue disease. Syndr Ident 7:16-17.
22. Topouzelis N, Markovitsi E, Antoniades K. 2003. Shprintzen-Goldberg syndrome: Case report. Cleft Palate Craniofac J 40:433-436.
23. Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U. 1993. Mutation screening of complete fibrillin-1 coding sequence: Report of five new mutations, including two in 8-cysteine domains. Hum Mol Genet 2:1813-1821.
24. Wang M, Mathews KR, Imaizumi K, Beiraghi S, Blumberg B, Scheuner M, Graham JM Jr, Godfrey M. 1997. P1148A in fibrillin-1 is not a mutation anymore. Nat Genet 15:12.
25. Watanabe Y, Yano S, Koga Y, Yukizane S, Nishiyori A, Yoshino M, Kato H, Ogata T, Adachi M. 1997. P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome. Hum Mutat 10:326-327.