Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic

Eye

Volumn 22, Issue 2, 2008, Pages 273-281

  Goyal, R ^a   Thompson, D ^a   Timms, C ^a   Wilson, L C ^a   Russell Eggitt, I ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGE; CATARACT EXTRACTION; CLINICAL ARTICLE; CLINICAL FEATURE; COCKAYNE SYNDROME; CONGENITAL CATARACT; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; ELECTRODIAGNOSIS; FEMALE; GENE MUTATION; GROWTH DISORDER; HALLERMANN STREIFF SYNDROME; HEAD CIRCUMFERENCE; HUMAN; INFANT; LENS IMPLANTATION; MALE; MEDICAL RECORD REVIEW; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PROGNOSIS; REVIEW; SKIN BIOPSY; TREATMENT OUTCOME; VISUAL SYSTEM EXAMINATION;

EID: 39449127635     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/sj.eye.6702958     Document Type: Review

References (21)

1. Thylefors B. A global initiative for the elimination of avoidable blindness. Indian J Ophthalmol 1998; 46(3): 129-130.
2. Rahi JS, Dezateaux C. Measuring and interpreting the incidence of congenital ocular anomalies: Lessons from a national study of congenital cataract in the UK. Invest Ophthalmol Vis Sci 2001; 42(7): 1444-1448.
3. Stoll C, Alembik Y, Dott B, Roth MP. Congenital eye malformations in 212,479 consecutive births. Ann Genet 1997; 40(2): 122-128.
4. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936; 11: 1-8.
5. Nance MA, Berry SA. Cockayne syndrome: Review of 140 cases. Am J Med Genet 1992; 42(1): 68-84.
6. Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol 1992; 114(5): 579-583.
7. Tanaka K, Kawai K, Kumahara Y, Ikenaga M, Okada Y. Genetic complementation groups in Cockkayne syndrome. Somatic Cell Genet 1981; 7(4): 445-455.
8. Rainbow AJ, Howes M. A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res 1982; 93(1): 235-247.
9. Spivak G. The many faces of Cockayne syndrome. Proc Natl Acad Sci USA 2004; 101(43): 15273-15274.
10. Ferreira RC, Roeder ER, Bataman JB. Cataract in early onset and classic Cockayne syndrome. Ophthalmic Genet 1997; 18(4): 193-197.
11. Warburg M, Sjo O, Fledelius HC, Pedersen SA. Antosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogerdtalism. Micro syndrome. Am J Dis Child 1993; 147(12): 1309-1312.
12. Ainsworth JR, Morton JE, Good P, Woods CG, George ND, Shield JP et al Micro syndrome in Muslim Pakistan children. Ophthalmology 2001; 108(3): 491-497.
13. Graham Jr JM, Hennekam R, Dobyns WB, Roeder E, Busch D. MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A 2004; 128(3): 235-245.
14. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K et al. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet 2005; 37(3): 221-223.
15. Cohen Jr MM. Hallermann-Streiff syndrome: A review. Am J Med Genet 1991; 41(4): 488-499.
16. Hennekam RC, van de Meeberg AG, van Doorne JM, Dijkstra PF, Bijlsma JB. Martsolf syndrome in a brother and sister: Clinical features and pattern of inheritance. Eur J Pediatr 1988; 147(5): 539-543.
17. Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC et al. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet 2006; 78(4): 702-707.
18. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S et al. Marinesco-Sjogren syndrome in a male with mild dysmorphism. Am J Med Genet A 2005; 133(2): 197-201.
19. Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N et al. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 2005; 37(12): 1312-1314.
20. Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D et al Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 2003; 35(2): 185-189.
21. Nowaczyk MJ, Waye JS. The Smith-Lemli-Opitz syndrome: A novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. Clin Genet 2001; 59(6): 375-386.