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01-09-2003 | Original Paper

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

Authors: Manolis J. Papagrigorakis, Philippos N. Synodinos, Constandinos P. Daliouris, Caterina Metaxotou

Published in: European Journal of Pediatrics | Issue 9/2003

Abstract

The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case. Conclusion:the current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.

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

Bhandari S, Farr MJ (1996) Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism. Am J Med Sci 311: 174–177PubMed

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

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: 1364–1370PubMed

Clarke RA, Catalan G, Diwan AD, Kearsley JH (1998) Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol 28: 967–974CrossRefPubMed

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: 371–376CrossRefPubMed

Da Silva EO (1982) Autosomal recessive Klippel-Feil syndrome. J Med Genet 19: 130–134PubMed

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: 447–449PubMed

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: 491–512PubMed

12.

Helmi C, Pruzansky S (1980) Craniofacial and extracranial malformations in the Klippel-Feil syndrome. Cleft Palate J 17: 65–81PubMed

13.

Hensinger RN, Lang JE, MacEwen GD (1974) Klippel-Feil syndrome: a constellation of associated anomalies. J Bone Joint Surg 56: 1246–1253PubMed

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: 352–355PubMed

17.

Nguyen VD, Tyrrel R (1993) Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign. Skeletal Radiol 22: 519–523PubMed

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: 743–746PubMed

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: 249–254PubMed

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: 297–301PubMed

24.

Russell LJ, Weaver DD, Bull MJ (1981) The axial mesodermal dysplasia spectrum. Pediatrics 67: 176–182PubMed

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: 18–19PubMed

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: 396–401CrossRefPubMed

28.

Thompson E, Haan E, Sheffield L (1998) Autosomal dominant Klippel-Feil anomaly with cleft palate. Clin Dysmorphol 7: 11–15PubMed

29.

Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE (1996) A human MSX1homeodomain missense mutation causes evidence tooth agenesis. Nat Genet 13: 417–421PubMed

30.

Van Kerckhoven MF, Fabry G (1989) The Klippel-Feil syndrome: a constellation of deformities. Acta Orthop Belg 55: 107–118PubMed

Title: De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia
Authors: Manolis J. Papagrigorakis
Philippos N. Synodinos
Constandinos P. Daliouris
Caterina Metaxotou
Publication date: 01-09-2003
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 9/2003
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-003-1262-3

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

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