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

Journal of Children's Orthopaedics

Volumn 1, Issue 2, 2007, Pages 143-150

  Debeer, Philippe ^a   Devriendt, Koen ^a   De Smet, Luc ^a   deRavel, Thomy ^a   Gonzalez Meneses, Antonio ^b   Grzeschik, Karl Heinz ^c   Fryns, Jean Pierre ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Greig syndrome; Polydactyly; Syndactyly

Indexed keywords

EID: 34447120060     PISSN: 18632521     EISSN: 18632548     Source Type: Journal    
DOI: 10.1007/s11832-007-0022-8     Document Type: Review

References (38)

1. Pearse RV 2nd, Tabin CJ (1998) The molecular ZPA. J Exp Zool 282:677-690
2. Buscher D, Bosse B, Heymer J, Ruther U (1997) Evidence for genetic control of Sonic hedgehog by Gli3 in mouse limb development. Mech Dev 62:175-182
3. Hui CC, Joyner AL (1993) A mouse model of greig cephalopolysyndactyly syndrome: The extra-toes J mutation contains an intragenic deletion of the Gli3 gene. Nat Genet 3:241-246
4. Masuya H, Sagai T, Wakana S, Moriwaki K, Shiroishi T (1995) A duplicated zone of polarizing activity in polydactylous mouse mutants. Genes Dev 9:1645-1653
5. Litingtung Y, Dahn RD, Li Y, Fallon JF, Chiang C (2002) Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity. Nature 418(6901):979-983
6. Lettice LA, Heaney SJ, Purdie LA, Li L, Debeer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E (2003) A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 12:1725-1735
7. Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, Konig R, Kunze J, Meinecke P, Muller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH (1999) Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet 8:1769-1777
8. Vortkamp A, Gessler M, Grzeschik KH (1991) GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352:539-540
9. Wang B, Fallon JF, Beachy PA (2000) Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb. Cell 100:423-434
10. Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, Konig R, Grzeschik KH (1997) Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet 6:1979-1984
11. Greig DM (1926) Oxycephaly. Edinburgh Med J 33:189-218
12. Fryns JP, Van Noyen G, Van den Berghe H (1981) The Greig polysyndactyly craniofacial dysmorphism syndrome: Variable expression in a family. Eur J Pediatr 136:217-220
13. Ausems MG, Ippel PF, Renardel de Lavalette PA (1994) Greig cephalopolysyndactyly syndrome in a large family: A comparison of the clinical signs with those described in the literature. Clin Dysmorphol 3:21-30
14. Baraitser M, Winter RM, Brett EM (1983) Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet 24:257-265
15. Chudley AE, Houston CS (1982) The Greig cephalopolysyndactyly syndrome in a Canadian family. Am J Med Genet 13:269-276
16. Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M (2003) Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A 120:49-58
17. Duncan PA, Klein RM, Wilmot PL, Shapiro LR (1979) Greig cephalopolysyndactyly syndrome. Am J Dis Child 133(8):818-821
18. Fryns JP, Coeck W, van den Berghe H (1977) The Greig polysyndactyly-craniofacial dysmorphism syndrome. Eur J Pediatr 126:283-287
19. Fryns JP (1982) Greig's syndrome: Variable polysyndactyly associated with distinct craniofacial dymorphism. J Genet Hum 30(Suppl 5):403-408
20. Gollop TR, Fontes LR (1985) The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. Am J Med Genet 22:59-68
21. Hootnick D, Holmes LB (1972) Familial polysyndactyly and craniofacial anomalies. Clin Genet 3:128-134
22. Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG (2003) Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A 123:236-242
23. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG (2005) Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609-622
24. Kroisel PM, Petek E, Wagner K (2001) Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet 102:243-249
25. Kruger G, Gotz J, Kvist U, Dunker H, Erfurth F, Pelz L, Zech L (1989) Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13). Am J Med Genet 32:411-416
26. Marafie MJ, Temtamy SA, Rajaram U, al-Awadi SA, el-Badramany MH, Farag TI (1996) Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. Am J Med Genet 66:261-264
27. Merlob P, Grunebaum M, Mimouni F, Reisner SH (1984) Greig's syndrome. Neonatal radiologic manifestations. J Radiol 65:187-189
28. Motegi T, Ohuchi M, Ohtaki C, Fujiwara K, Enomoto S, Hasegawa T, Kishi K, Hayakawa H (1985) A craniosynostosis in a boy with a del(7)(p15.3p21.3): Assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21. Hum Genet 71:160-162
29. Pettigrew AL, Greenberg F, Caskey CT, Ledbetter DH (1991) Greig syndrome associated with an interstitial deletion of 7p: Confirmation of the localization of Greig syndrome to 7p13. Hum Genet 87:452-456
30. Tommerup N, Nielsen F (1983) A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. Am J Med Genet 16:313-321
31. Williams PG, Hersh JH, Yen FF, Barch MJ, Kleinert HE, Kunz J, Kalff-Suske M (1997) Greig cephalopolysyndactyly syndrome: Altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. Clin Genet 52:436-441
32. Armour JA, Sismani C, Patsalis PC, Cross G (2000) Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 28:605-609
33. Kang S, Graham JM Jr, Olney AH, Biesecker LG (1997) GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 3:266-268
34. Radhakrishna U, Wild A, Grzeschik KH, Antonarakis SE (1997) Mutation in GLI3 in postaxial polydactyly type A. Nat Genet 17:269-271
35. Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE (1999) The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 65:645-655
36. Elson E, Perveen R, Donnai D, Wall S, Black GC (2002) De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 39(11):804-806
37. Schinzel A, Kaufmann U (1986) The acrocallosal syndrome in sisters. Clin Genet 30:399-405
38. Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E (2006) Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). Eur J Med Genet 49:338-345