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Debeer P, Devriendt K, De Smet L, et al. The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. J Child Orthop. 2007;1(2):143-50doi: 10.1007/s11832-007-0022-8.
Debeer, P., Devriendt, K., De Smet, L., Deravel, T., Gonzalez-Meneses, A., Grzeschik, K. H., & Fryns, J. P. (2007). The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. Journal of children's orthopaedics, 1(2), 143-50. https://doi.org/10.1007/s11832-007-0022-8
Debeer, Philippe, et al. "The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly." Journal of children's orthopaedics vol. 1,2 (2007): 143-50. doi: https://doi.org/10.1007/s11832-007-0022-8
Debeer P, Devriendt K, De Smet L, Deravel T, Gonzalez-Meneses A, Grzeschik KH, Fryns JP. The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. J Child Orthop. 2007 Jul;1(2):143-50. doi: 10.1007/s11832-007-0022-8. Epub 2007 May 10. PMID: 19308487; PMCID: PMC2656707.
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J Child Orthop. 2007 Jul;1(2):143-50. doi: 10.1007/s11832-007-0022-8. Epub 2007 May 10.

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.

Journal of children's orthopaedics

Philippe Debeer, Koen Devriendt, Luc De Smet, Thomy Deravel, Antonio Gonzalez-Meneses, Karl-Heinz Grzeschik, Jean-Pierre Fryns

Affiliations

  1. Division of Orthopaedics, Department of Musculoskeletal Science, University Hospital Pellenberg, Weligerveld 1, 3212, Pellenberg, Belgium, [email protected].

PMID: 19308487 PMCID: PMC2656707 DOI: 10.1007/s11832-007-0022-8

Abstract

PURPOSE: Greig cephalopolysyndactyly (GCPS) (OMIM 175700), a rare autosomal dominant disorder, is characterized by a distinct combination of craniofacial, hand and foot malformations. The hand and foot malformations often require orthopedic assessment and treatment. The disorder is caused by point mutations or deletions in the GLI3 gene, located on chromosome 7p14.3. Herewith, we review the hand and foot malformations in a cohort of 13 patients referred for genetic testing.

METHODS: We reviewed the medical files of 13 patients with GCPS seen at the Center for Human Genetics in Leuven between 2003 and 2005. Clinical, molecular and radiological findings, when available, were recorded.

RESULTS: We identified six different point mutations in the GLI3 gene, two microdeletions and three larger chromosomal deletions. In the hands, preaxial polydactyly was never observed, but the malformations included postaxial polydactyly, broad thumbs, clinodactyly of the thumbs and various degrees of syndactyly. In the feet the spectrum of malformations included preaxial polydactyly, postaxial polydactyly, different degrees of syndactyly and broad halluces. Syndactyly of the toes and hallux abnormalities were present in all patients. Most frequently, syndactyly was present between toes 1-2-3. The broadening of the hallux was either due to a complete or partial duplication of the first toe or to broadening of the distal phalanx. Mental retardation was found in three cases and was associated with a large chromosomal deletion of the GLI3 region.

CONCLUSION: We found the classic hand and foot malformations associated with GCPS in our cohort of patients. Patients with a large chromosomal deletion had mental retardation, but no structural brain anomalies were found.

References

  1. Clin Genet. 1986 Nov;30(5):399-405 - PubMed
  2. Clin Dysmorphol. 1994 Jan;3(1):21-30 - PubMed
  3. Nucleic Acids Res. 2000 Jan 15;28(2):605-9 - PubMed
  4. Clin Genet. 1983 Oct;24(4):257-65 - PubMed
  5. Am J Med Genet. 1985 Sep;22(1):59-68 - PubMed
  6. Hum Mol Genet. 2003 Jul 15;12(14):1725-35 - PubMed
  7. Am J Dis Child. 1979 Aug;133(8):818-21 - PubMed
  8. Am J Med Genet. 1989 Mar;32(3):411-6 - PubMed
  9. Hum Genet. 1991 Aug;87(4):452-6 - PubMed
  10. Edinb Med J. 1926 Apr;33(4):189-218 - PubMed
  11. J Genet Hum. 1982 Dec;30 Suppl 5:403-8 - PubMed
  12. Hum Mol Genet. 1997 Oct;6(11):1979-84 - PubMed
  13. Nat Genet. 1997 Mar;15(3):266-8 - PubMed
  14. Nature. 1991 Aug 8;352(6335):539-40 - PubMed
  15. Am J Med Genet A. 2003 Jul 1;120A(1):49-58 - PubMed
  16. Hum Genet. 1985;71(2):160-2 - PubMed
  17. Am J Hum Genet. 1999 Sep;65(3):645-55 - PubMed
  18. J Med Genet. 2002 Nov;39(11):804-6 - PubMed
  19. Am J Med Genet A. 2003 Dec 15;123A(3):236-42 - PubMed
  20. Nature. 2002 Aug 29;418(6901):979-83 - PubMed
  21. Cell. 2000 Feb 18;100(4):423-34 - PubMed
  22. J Radiol. 1984 Mar;65(3):187-9 - PubMed
  23. Am J Med Genet. 1982 Nov;13(3):269-76 - PubMed
  24. Eur J Pediatr. 1981 May;136(2):217-20 - PubMed
  25. Mech Dev. 1997 Mar;62(2):175-82 - PubMed
  26. Nat Genet. 1993 Mar;3(3):241-6 - PubMed
  27. Am J Med Genet. 1996 Dec 18;66(3):261-4 - PubMed
  28. Clin Genet. 1997 Dec;52(6):436-41 - PubMed
  29. Am J Med Genet. 1983 Nov;16(3):313-21 - PubMed
  30. Am J Med Genet. 2001 Aug 15;102(3):243-9 - PubMed
  31. Genes Dev. 1995 Jul 1;9(13):1645-53 - PubMed
  32. Eur J Pediatr. 1977 Nov 4;126(4):283-7 - PubMed
  33. Nat Genet. 1997 Nov;17(3):269-71 - PubMed
  34. J Exp Zool. 1998 Dec 15;282(6):677-90 - PubMed
  35. Clin Genet. 1972;3(2):128-34 - PubMed
  36. Am J Hum Genet. 2005 Apr;76(4):609-22 - PubMed
  37. Hum Mol Genet. 1999 Sep;8(9):1769-77 - PubMed
  38. Eur J Med Genet. 2006 Jul-Aug;49(4):338-45 - PubMed

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