Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 7, 2008, Pages 904-909

  Binenbaum, Gil ^a,b   McDonald McGinn, Donna M ^a   Zackai, Elaine H ^a   Walker, B Michael ^c   Coleman, Karlene ^d   Mach, Amy M ^e   Adam, Margaret ^f   Manning, Melanie ^g   Alcorn, Deborah M ^g   Zabel, Carrie ^h   Anderson, Dennis R ^h   Forbes, Brian J ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d Children's Healthcare of Atlanta at Egleston   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f EMORY UNIVERSITY   (United States)

^g LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^h Saint Joseph's Hospital Wisconsin   (United States)

Author keywords

Catch 22; Cayler cardiofacial syndrome; Chromosome 22q11.2 deletion syndrome; Corneal opacity; DiGeorge syndrome; Opitz G BBB syndrome; Sclerocornea; Velocardiofacial syndrome

Indexed keywords

ARTICLE; ASTIGMATISM; CAYLER CARDIOFACIAL SYNDROME; CHROMOSOME 22Q11.2 DELETION SYNDROME; CHROMOSOME DELETION; CLINICAL ARTICLE; CORNEA OPACITY; CORNEA TRANSPLANTATION; DIGEORGE SYNDROME; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MALFORMATION SYNDROME; MICROPHTHALMIA; OPITZ SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCLEROCORNEA; STRABISMUS; VELOCARDIOFACIAL SYNDROME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CORNEAL DISEASES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; SYNDROME;

CHAMAESARACHA;

EID: 41849103828     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32156     Document Type: Article

References (36)

1. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. 2005. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet Part A 138A:307-313.
2. Beemer FA, de Nef JJ, Delleman JW, Bleeker-Wagemakers EM, Shprintzen RJ. 1986. Additional eye findings in a girl with the velo-cardio-facial syndrome. Am J Med Genet 24:541-542.
3. Bloch N. 1965. Les differents types de sclerocornáee, leurs modes d'hereditáe et les malformations congáenitales concomitantes. J Genet Hum 14:133-172.
4. Casteels I, Devriendt K. 2005. Unilateral Peter anomaly in a patient with DiGeorge syndrome. J Pediatr Ophthalmol Strabismus 42:311-313.
5. Desvignes P, Pouliquen Y, Legras M, Guyot JD. 1967. Aspect iconographique d'une cornea plana dans une maladie de Lobstein. Arch Ophthalmol 27:585-592.
6. Devriendt K, Fryns JP, Mortier G. 1998. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 35:789-790.
7. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. 1993. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis. J Med Genet 30:813-817.
8. Eliott JH, Ferman SS, O'Day DM, Garber M. 1985. Hereditary sclerocornea. Arch Ophthalmol 103:676-679.
9. Fitch N. 1983. Velo-cardio-facial syndrome and eye abnormality [letter]. Am J Med Genet 15:669.
10. Forbes BJ, Binenbaum G, Edmund JC, Delarato N, McDonald-McGinn DM, Zackai EH. 2006. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS (in press).
11. Friedman AH, Weingeist S, Brackup A, Marinoff G. 1975. Sclerocornea and defective mesodermal migration. Br J Ophthalmol 59:638.
12. Gregersen E. 1981. Keratoplasty in babies with sclerocornea: To do or not to do? Report of an unsuccessful case. Dev Ophthalmol 5:52.
13. Happle R, Daniels O, Koopman RJJ. 1993. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 47:710-713.
14. Howard RO, Abrahams IW. 1971. Sclerocornea. Am J Ophthalmol 71:1254.
15. Kampik A, Lund OE, Halbig W. 1986. Penetrating keratoplasty in congenital corneal opacities. Klin Monatsbl Augenheilkd 188:188-192.
16. LaCassie Y, Arriaza MI. 1996. Opitz GBBB syndrome and the 22q11 deletion syndrome [letter]. AmJ Med Genet 62:318.
17. Mansour AM, Goldberg RB, Wang FM, Shprintzen RJ. 1987. Ocular findings in the velocardial facial syndrome. J Pediatr Ophthalmol Strabismus 24:263-266.
18. Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K. 1994. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet 53:285-289.
19. McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. 1995. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11. 2 deletion. Am J Med Genet 59:103-113.
20. McDonald-McGinn DM, Driscoll DA, Emanuel BS, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. 1996. The 22q11 deletion in African-American patients: An underdiagnosed population. Am J Hum Genet 59:A90.
21. McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. 1997. The 22q11.2 Deletion: Screening, diagnostic work up, and outcome of results; report of 181 patients. Genetic Test 1:99-108.
22. McDonald-McGinn DM, Zackai EH, Low D. 1997. What's in a name? The 22q11.2 deletion [letter]. Am J Med Genet 72:247-249.
23. McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. 1999. The Philadelphia story: The 22q11.2 deletion: Report on 250 patients. Genet Couns 10:11-24.
24. McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH. 2001. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net. Genet Med 3:23-29.
25. McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, Goldmuntz E, Driscoll D, Larossa D, Emanuel BS, Zackai EH. 2005. The 22q11.2 deletion in African-American patients: An underdiagnosed population? Am J Med Genet Part A 134A:242-246.
26. McDonald-McGinn DM, Emanuel BS, Zackai EH. 2006. 22q11.2 Deletion Syndrome. Accessed Feb 2006 at www.genetests. org.
27. Moriarty AP, Kerr-Muir MG. 1992. Sclerocornea and interstitial deletion of the short arm of chromosome 6-(46XY del[6] [p22 p24]). J Pediatr Ophthalmol Strabismus 29:177-179.
28. Oskarsdottir S, Vujic M, Fasth A. 2004. Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden. Arch Dis Child 89:148-151.
29. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34:798-804.
30. Shprintzen RJ, Wang F, Goldberg R, Marion R. 1985. The expanded velo-cardio-facial syndrome (VCF): Additional features of the most common clefting syndrome. Am J Hum Genet 37:A77.
31. Sullivan KE. 2004. The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol 4:505-512.
32. Tahvanainen E, Forsius H, Karila E, Ranta S, Eerola M, Weissenbach J, Sistonen P, de la Chapelle A. 1995. Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics 26:290-293.
33. Townsend WM. 1998. Congential corneal opacification. In: Kaufman HE, Barron BA, McDonald MB, editors. The Cornea. 2nd edition. Boston: Butterworth-Heinmann. p 371-373.
34. Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. 2004. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 13:315-322.
35. Wilson DI, Burn J, Scambler P, Goodship J. 1993. DiGeorge syndrome: Part of CATCH 22. J Med Genet 30:852-856.
36. Wulfsberg EA, Leana-Cox J, Neri G. 1996. What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes. Am J Med Genet 65:317-319.