De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

European Journal of Pediatrics

Volumn 162, Issue 9, 2003, Pages 594-597

  Papagrigorakis, Manolis J ^a,c   Synodinos, Philippos N ^a   Daliouris, Constandinos P ^a   Metaxotou, Caterina ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b UNIVERSITY OF ATHENS   (Greece)

^c NONE   (Greece)

Author keywords

Chromosome 2 inversion; Hypodontia; Klippel Feil anomaly

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CERVICAL SPINE; CHROMOSOME 2; CHROMOSOME INVERSION; CLINICAL FEATURE; DISEASE ASSOCIATION; FACE DYSMORPHIA; FEMALE; FUNCTIONAL MORPHOLOGY; HEARING IMPAIRMENT; HUMAN; HYPOTHYROIDISM; KLIPPEL FEIL SYNDROME; OLIGODONTIA; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCOLIOSIS; SHORT STATURE; SPEECH DISORDER; TOOTH;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANODONTIA; CHROMOSOMES, HUMAN, PAIR 2; CONGENITAL HYPOTHYROIDISM; FACIAL ASYMMETRY; FEMALE; HEARING LOSS; HUMANS; HYPOTHYROIDISM; INVERSION, CHROMOSOME; KLIPPEL-FEIL SYNDROME; PSYCHOMOTOR DISORDERS; SCOLIOSIS; SPEECH DISORDERS; SPINE;

EID: 0042410698     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1262-3     Document Type: Article

References (30)

1. Ahmad W, Brancolini V, Faiyaz ul Haque M, Lam H, ul Haque S, Haider M, Maimon A, Aita VM, Owen J, Brown D, Zegarelli DJ, Ahmad M, Ott J, Christianno AM (1998) A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1. (Letter) Am J Hum Genet 62: 987-991
2. Bhandari S, Farr MJ (1996) Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism. Am J Med Sci 311: 174-177
3. Brown MW, Templeton AW, Hodges FW III (1964) The incidence of acquired and congenital fusions in the cervical spine. Am J Roentgenol 94: 1255-1259
4. Clarke RA, Singh S, McKenzie H, Kearsly JH, Yip MY (1995) Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet 57: 1364-1370
5. Clarke RA, Catalan G, Diwan AD, Kearsley JH (1998) Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol 28: 967-974
6. Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright JT, Patel PI (2002) Haploinsufficiency of PAX9is associated with autosomal dominant hypodontia. Hum Genet 110: 371-376
7. Da Silva EO (1982) Autosomal recessive Klippel-Feil syndrome. J Med Genet 19: 130-134
8. Fukushima Y, Ohashi H, Wakui K, Nishimoto H, Sato M, Aihara T (1995) De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. Am J Med Genet 57: 447-449
9. Gjorup PA, Gjorup L (1964) Klippel-Feil syndrome. Dan Med Bull 11: 50-53
10. Gorlin RJ, Cohen MM, Levin SL (1990) Klippel-Feil anomaly. In: Gorlin RJ, Cohen MM, Levin SL (eds) Syndromes of the head and neck. Oxford University Press, New York, pp 886-889
11. Gunderson CH, Greenspan RH, Glaser GH, Lubs HA (1967) The Klippel-Feil syndrome: genetics and clinical re-evaluation of cervical fusion. Medicine 46: 491-512
12. Helmi C, Pruzansky S (1980) Craniofacial and extracranial malformations in the Klippel-Feil syndrome. Cleft Palate J 17: 65-81
13. Hensinger RN, Lang JE, MacEwen GD (1974) Klippel-Feil syndrome: a constellation of associated anomalies. J Bone Joint Surg 56: 1246-1253
14. Klippel M, Feil A (1912) Un cas des vertebres cervicales avec cage thoracique remontent justqu'a la base du crane. Novelle Iconographic de las Saltpetriere 25: 223-250
15. Kozlowski K, Sillence D, Taylor F (1993) Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome? Pediatr Radiol 23: 442-445
16. McGaughran JM, Kuna P, Das V (1998) Audiological abnormalities in the Klippel-Feil syndrome. Arch Dis Child 79: 352-355
17. Nguyen VD, Tyrrel R (1993) Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign. Skeletal Radiol 22: 519-523
18. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Pirinen S (2001) Identification of a nonsense mutation in the PAX9gene in molar oligodontia. Eur J Hum Genet 9: 743-746
19. Ohashi H, Wakui K, Nishimoto H, Sato M, Aihara T, Nishida T, Fukushima Y (1992) Klippel-Feil syndrome and de novo balanced autosomal translocation [46,XX,t(5,17)(q11.2;q23)] (Abstract). Am J Hum Genet 51[Suppl]: A294
20. Online Mendelian Inheritance in Man (2000). McKusick-Nathans Institute for Genetic Medicine, John Hopkins University, Baltimore and National Center for Biotechnology Information, National Library of Medicine, Bethesdahttp://www.ncbi.nlm.-nih.gov/omim/
21. Online Mendelian Inheritance in Man (1) (1999). McKusick-Nathans Institute for Genetic Medicine, John Hopkins University, Baltimorehttp://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim? 148900
22. Ozdiler E, Akcam MO, Sayin MO (2000) Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female. J Clin Pediatr Dent 24: 249-254
23. Raas Rothschild A, Goodman RM, Grumbaum M, Berger I, Minoumi M (1988) Klippel-Feil anomaly with sacral agenesis: an additional subtype, type IV. J Craniofac Genet Dev Biol 8: 297-301
24. Russell LJ, Weaver DD, Bull MJ (1981) The axial mesodermal dysplasia spectrum. Pediatrics 67: 176-182
25. Shaver KA, Proud VK, Shaffer MC, Meyer JM, Nance WE (1986) Deafness, facial asymmetry and Klippel-Feil syndrome in five generations (Abstract). Am. J Hum Genet 39: A81
26. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000) Mutation of PAX9is associated with oligodontia (letter). Nat Genet 24: 18-19
27. Thomsen MN, Schneider U, Weber M, Johannisson R, Nithard FU (1997) Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine 22: 396-401
28. Thompson E, Haan E, Sheffield L (1998) Autosomal dominant Klippel-Feil anomaly with cleft palate. Clin Dysmorphol 7: 11-15
29. Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE (1996) A human MSX1homeodomain missense mutation causes evidence tooth agenesis. Nat Genet 13: 417-421
30. Van Kerckhoven MF, Fabry G (1989) The Klippel-Feil syndrome: a constellation of deformities. Acta Orthop Belg 55: 107-118