A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure

Clinical and Experimental Nephrology

Volumn 14, Issue 4, 2010, Pages 381-384

  Motoyama, Osamu ^a   Arai, Hiroko ^b   Harada, Ryoko ^b   Hasegawa, Kei ^b   Iitaka, Kikuo ^c  

^a TOHO UNIVERSITY SAKURA MEDICAL CENTER   (Japan)

^b TOHO UNIVERSITY OMORI MEDICAL CENTER   (Japan)

^c KITASATO UNIVERSITY   (Japan)

Author keywords

Chronic renal failure; Corneal staphyloma; Myelomeningocele; Peters plus syndrome; Sclerocornea; Spina bifida

Indexed keywords

BETA 2 MICROGLOBULIN; COTRIMOXAZOLE; CYCLOSPORIN; STEROID;

ANAMNESIS; ANTERIOR EYE SEGMENT; ARTICLE; BLADDER CATHETERIZATION; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CAST APPLICATION; CHILD; CHRONIC KIDNEY FAILURE; COMPUTER ASSISTED TOMOGRAPHY; CORNEA DISEASE; CORNEA OPACITY; CORNEA STAPHYLOMA; CYSTOGRAPHY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EXOPHTHALMOS; FACE MALFORMATION; FEMALE; FEMUR FRACTURE; FOOT ORTHOSIS; GRAFT VERSUS HOST REACTION; HUMAN; HYDROCEPHALUS; HYDRONEPHROSIS; IMMOBILIZATION; IMMUNOSUPPRESSIVE TREATMENT; KERATOPLASTY; KIDNEY DYSPLASIA; KIDNEY SIZE; MENINGOMYELOCELE; PARAPLEGIA; PES EQUINOVARUS; PETERS ANOMALY; POLYURIA; SCHOOL CHILD; SCLEROCORNEA; SHORT STATURE; SPINA BIFIDA; URINARY TRACT INFECTION; URINE INCONTINENCE; URINE RETENTION;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EYE ABNORMALITIES; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY FAILURE, CHRONIC; MAGNETIC RESONANCE IMAGING; MAXILLOFACIAL ABNORMALITIES; MENINGOMYELOCELE; MULTICYSTIC DYSPLASTIC KIDNEY; SYNDROME;

EID: 78649474089     PISSN: 13421751     EISSN: 14377799     Source Type: Journal    
DOI: 10.1007/s10157-010-0283-2     Document Type: Article

References (18)

1. Laibson PR, Rapuano CJ. Diseases of the cornea. In: Nelson LB, editor. Harley's pediatric ophthalmology. 4th ed. Philadelphia: WB Saunders; 1998. p. 215-57.
2. Aubertin G, Weiss MM, Saskia AJ. Peter plus syndrome. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part= peters-plus.
3. Elder JS. Obstruction of the urinary tract. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson textbook of pediatrics 18th ed. Philadelphia: Saunders Elsevier; 2007. p. 2234-43.
4. Suwa S, Tachibana K, Maesaka H, Tanaka H, Yokoya S. Longitudinal standards for height and height velocity for Japanese children from birth to maturity. Clin Pediatr Endocrinol. 1992;1:5-13.
5. Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, et al. Mutation analysis of B3GALTL in Peters plus syndrome. Am J Med Genet Part A. 2008;146A:2603-10.
6. Elliott JH, Feman SS, O'Day DM, Garber M. Hereditary sclerocornea. Arch Ophthalmol. 1985;103:676-9.
7. Stoll C, Alembik Y, Dott B, Roth MP. Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthal Pediatr Genet. 1992;13:179-86.
8. Beauchamp GR. Role of the neural crest in anterior segment development and disease. J Pediatr Ophthalmol Strabismus. 1984;21:209-14.
9. Michels VV, Hittner HM, Beaudet AL. A clefting syndrome with ocular anterior chamber defect. J Pediatr. 1978;93:444-6.
10. Brear DR, Insler MS. Axenfeld's syndrome associated with systemic abnormalities. Ann Ophthalmol. 1985;17:291-4.
11. Frydman M, Weinstock AL, Cohen HA, Savir H, Varsano I. Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause-Kivlin syndrome. Am J Med Genet. 1991;40:34-40.
12. Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Arch Ophthalmol. 1992;110:1739-42.
13. Heon E, Barsoum-Homsy M, Cevrette L, Jacob JL, Milot J, Polemeno R, et al. Peters' anomaly. The spectrum of associated ocular and systemic malformations. Ophthal Pediatr Genet. 1992;13:137-43.
14. Hennekam RCM, van Svhooneveld MJ, Ardinger HH, van Den Boogaard MJH, Friedburg D, Rudnik-Schoneborn S, et al. The Peters'-plus syndrome: Description of 16 patients and review of the literature. Clin Dysmorphol. 1993;2:283-300.
15. Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, et al. Peters plus syndrome is caused by mutation in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006;79:562-6.
16. Brem AS, Martin D, Callaghan J, Maynard J. Long-term renal risk factors in children with meningomyelocele. J Pediatr. 1987;110:51-5.
17. Grünberg J, Verocay MC, Rébori A, Pouso J. Comparison of chronic peritoneal dialysis outcomes in children with and without spina bifida. Pediatr Nephrol. 2007;22:573-7.
18. Hamdi M, Mohan P, Little DM, Hickey DP. Successful renal transplantation in children with spina bifida: Long term single center experience. Pediatr Transplant. 2004;8:167-70.