An ophthalmic screening protocol for nail-patella syndrome

Journal of Pediatric Ophthalmology and Strabismus

Volumn 40, Issue 1, 2003, Pages 51-53

  Galloway, Gavin ^a   Vivian, Anthony ^a,b  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b WEST SUFFOLK HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; EYE DISEASE; FEMALE; GENETIC COUNSELING; GLAUCOMA; HUMAN; LIMB DEVELOPMENT; NAIL PATELLA SYNDROME; PEDIGREE; SCREENING; VISUAL ACUITY;

EID: 0037256474     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: 10.3928/0191-3913-20030101-15     Document Type: Article

References (14)

1. Little EM. Congenital absence or delayed development of the patella. Lancet 1897;11:781-784.
2. Fong EE. "Iliac horns" (symmetric bilateral central posterior iliac processes). Radiology 1946;47:517-518.
3. Raman D, Haslock I. The nail-patella syndrome: a report of two cases and a literature review. British Journal of Rheumatology 1983;22:41-46.
4. Karabulut N, Ariyurek M, Erol C, et al. Imaging of "iliac horns" in nail-patella syndrome. J Comput Assist Tomogr 1996;20:530-531.
5. Bodziak KA, Hammond WS, Molitoris BA. Inherited diseases of the glomerular basement membrane. Am J Kidney Dis 1994;23:605-618.
6. Smeets HJ, Knoers VV, van de Heuvel LP, Lammink HH, Schroder CH, Monnens LA. Hereditary disorders of the glomerular basement membrane. Pediatr Nephrol 1996;10:779-788.
7. Lester AM. A familial dyschondroplasia associated with anonychia and other deformities. Lancet 1963;2:1519-1521.
8. Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley FA. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 1997;124:506-515.
9. Spitalny LA, Fenske HD. Hereditary osteo-onychodysplasia. Am J Ophthalmol 1970;70:604-608.
10. Clough MV, Hamlington JD, McIntosh I. Restricted distribution of loss-of-function mutations within the LMX1B genes of nailpatella syndrome patients. Hum Mutat 1999;14:459-465.
11. Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nailpatella syndrome. Hum Mol Genet 1998;7:1091-1098.
12. Silahtaroglu A, Hol FA, Jensen PK, et al. Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. Eur J Hum Genet 1999;7:68-76.
13. Pressman CL, Chen H, Johnson RL. LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye. Genesis 2000;26:15-25.
14. Looij BJ Jr, te Slaa RL, Hogewind BL, van de Kamp JJ. Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nailpatella syndrome) with nephropathy. J Med Genet 1988;25:682-686.