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American Journal of Medical Genetics

Volumn 95, Issue 2, 2000, Pages 118-122

Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis

(3) Edwards, Matthew J a,c Rowe, Lindsay b Petroff, Victor b

a Hunter Health (Australia)

b JOHN HUNTER HOSPITAL (Australia)

c UNIVERSITY OF NEWCASTLE (Australia)

Author keywords

Fusions; Paraparesis; Symphalangism brachydactyly; Vertebral anomalies

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; GENE MUTATION; HERRMANN MULTIPLE SYNOSTOSIS SYNDROME; HUMAN; MALE; NECK INJURY; NEUROLOGICAL COMPLICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; SPINAL CORD COMPRESSION; SYNOSTOSIS; VERTEBRAL CANAL STENOSIS;

ABNORMALITIES, MULTIPLE; ADULT; CASE REPORT; CHROMOSOMES, HUMAN, PAIR 17; DIAGNOSIS, DIFFERENTIAL; FACIES; HAND DEFORMITIES, CONGENITAL; HUMAN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVOUS SYSTEM DISEASES; SPINAL CORD COMPRESSION; SPINE; SYNDROME; SYNOSTOSIS; TOMOGRAPHY, X-RAY COMPUTED;

ACROMIA;

EID: 0034645521 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20001113)95:2<118::AID-AJMG5>3.0.CO;2-V Document Type: Article

Times cited : (11)

References (18)

1
- 0032574659
- Three new cases of spondylocarpotarsal syndrome: Clinical and radiographic studies
- (1998) Am J Med Genet , vol.77 , pp. 12-15
- Coelho, K.F.A.¹ Ramos, E.S.² Felix, T.M.³ Martelli, L.⁴ De Pena-Neto, J.M.⁵ Niikawa, N.⁶

2
- 4243870577
- Tarsal/carpal coalition with symphalangism maps to chromosome 17q21
- (1998) Am J Hum Genet , vol.63 , Issue.SUPPL.
- Dixon, M.E.¹ Armstrong, P.A.² Stevens, D.B.³ Jorde, L.B.⁴ Bamshad, M.⁵

3
- 0022000935
- Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family
- (1985) J Bone Joint Surg [Am] , vol.67 , pp. 884-889
- Drawbert, J.P.¹ Stevens, D.B.² Cadle, R.G.³ Hall, B.D.⁴

4
- 0013872849
- Congenital heart disease, deafness, and skeletal malformations: A new syndrome?
- (1966) J Pediatr , vol.68 , pp. 14-26
- Forney, W.R.¹ Robinson, S.J.² Pascoe, D.J.³

5
- 0033052269
- Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
- (1999) Nat Genet , vol.21 , pp. 302-304
- Gong, Y.¹ Krakow, D.² Marcelino, J.³ Wilkin, D.⁴ Chitayat, D.⁵ Babul-Hirji, R.⁶ Hudgins, L.⁷ Cremers, C.W.⁸ Cremers, F.P.M.⁹ Brunner, H.G.¹⁰ Reinker, K.¹¹ Rimoin, D.L.¹² Cohn, D.H.¹³ Goodman, F.R.¹⁴ Reardon, W.¹⁵ Patton, M.¹⁶ Francomano, C.A.¹⁷ Warman, M.L.¹⁸

6
- 0016215357
- Symphalangism and brachydactyly syndrome: Report of the WL symphalangism-brachydactyly syndrome: Review of literature and classification
- (1974) Birth Defects Orig Art Ser , vol.10 , Issue.PART 5 , pp. 23-53
- Herrmann, J.¹

7
- 0021854768
- The facio-audio-symphalangism syndrome. Report of a case and review of the literature
- (1985) Clin Genet , vol.28 , pp. 61-68
- Hurvitz, S.A.¹ Goodman, R.M.² Hertz, M.³ Katznelson, M.B.⁴ Sack, Y.⁵

8
- 0032231746
- Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-q22
- (1998) Am J Hum Genet , vol.63 , pp. 120-124
- Krakow, D.¹ Reinker, K.² Powell, B.³ Cantor, R.⁴ Priore, M.A.⁵ Garber, A.⁶ Lachman, R.S.⁷ Rimoin, D.L.⁸ Cohn, D.H.⁹

9
- 0019811366
- Symphalangism with multiple abnormalities of the hands and feet: A new genetic trait
- (1981) Am J Med Genet , vol.10 , pp. 245-255
- Learman, Y.¹ Katznelson, M.B.² Bonne-Tamir, B.³ Engel, J.⁴ Hertz, M.⁵ Goodman, R.M.⁶

10
- 0023520053
- Distal symphalangism with involvement of the thumbs and great toes
- (1987) Clin Genet , vol.32 , pp. 375-378
- Matthews, S.¹ Farnish, S.² Young, I.D.³

11
- 0019789151
- Distal symphalangism associated with camptodactyly
- (1981) J Med Genet , vol.18 , pp. 456-458
- Ohdo, S.¹ Yamauchi, Y.² Hayakawa, K.³

12
- 0007632396
- Online Mendelian Inheritance in Man, OMIM(TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1998. number 186500
- (1998)

13
- 0028998774
- Localization of the gene [SYM1] for proximal symphalangism to human chromosome 17q21-q22
- (1995) Genomics , vol.27 , pp. 225-229
- Polymeropoulos, M.H.¹ Poush, J.² Rubenstein, J.R.³ Francomano, C.A.⁴

14
- 0007665065
- POSSUM (Pictures of Standard Syndromes and Unknown Malformations). CD-ROM. Murdoch Institute, Melbourne Australia
- (1998)

15
- 0026408153
- Distal symphalangism: A report of two families
- (1991) J Hered , vol.82 , pp. 233-238
- Poush, J.R.¹

16
- 0018099969
- Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: A new syndrome
- (1978) J Med Genet , vol.15 , pp. 208-211
- Sillence, D.O.¹

17
- 0018384889
- Symphalangism, short stature, skeletal anomalies, and accessory testis: A new malformation syndrome
- (1979) J Med Genet , vol.16 , pp. 159-160
- Theodor, R.¹ Hertz, M.² Goodman, R.M.³

18
- 0017176167
- Family study of inherited syndrome with multiple congenital deformities: Symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis
- (1976) J Med Genet , vol.13 , pp. 394-393
- Ventruto, V.¹ Di Girolamo, R.² Festa, B.³ Romano, A.⁴ Sebastio, G.⁵ Sebastio, L.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.