Literature DB >> 20424881

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

Osamu Motoyama1, Hiroko Arai, Ryoko Harada, Kei Hasegawa, Kikuo Iitaka.   

Abstract

A girl was born with sclerocornea of the right eye, corneal staphyloma of the left eye and lumbar myelomeningocele. The myelomeningocele was repaired soon after birth. The corneal staphyloma was perforated during infancy. She received keratoplasty and achieved light perception. Her right kidney revealed multicystic dysplasia and was non-functioning at birth. She had neurogenic bladder, and her renal function deteriorated gradually. Peters plus syndrome was diagnosed based on anterior ocular segment anomalies, short stature, developmental delay and characteristic face. Anterior ocular segment anomalies are rare findings, but seem to be occasionally associated with spina bifida and renal anomalies. Myelomeningocele and chronic renal failure in patients with Peters plus syndrome have not been reported to our knowledge.

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Year:  2010        PMID: 20424881     DOI: 10.1007/s10157-010-0283-2

Source DB:  PubMed          Journal:  Clin Exp Nephrol        ISSN: 1342-1751            Impact factor:   2.801


  14 in total

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Authors:  V V Michels; H M Hittner; A L Beaudet
Journal:  J Pediatr       Date:  1978-09       Impact factor: 4.406

2.  Comparison of chronic peritoneal dialysis outcomes in children with and without spina bifida.

Authors:  Jose Grünberg; María Cristina Verocay; Anabella Rébori; Jorge Pouso
Journal:  Pediatr Nephrol       Date:  2006-12-16       Impact factor: 3.714

3.  Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

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Journal:  Am J Hum Genet       Date:  2006-07-19       Impact factor: 11.025

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Journal:  J Pediatr       Date:  1987-01       Impact factor: 4.406

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Journal:  Ophthalmic Paediatr Genet       Date:  1992-09

9.  Successful renal transplantation in children with spina bifida: long term single center experience.

Authors:  M Hamdi; P Mohan; D M Little; David P Hickey
Journal:  Pediatr Transplant       Date:  2004-04

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Authors:  G R Beauchamp; P A Knepper
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  2 in total

1.  Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Authors:  Eric Weh; Hideyuki Takeuchi; Sanaa Muheisen; Robert S Haltiwanger; Elena V Semina
Journal:  PLoS One       Date:  2017-09-19       Impact factor: 3.240

2.  Peter Plus Syndrome: A Neurosurgeon's Perspective.

Authors:  Deepak Khatri; Jaskaran S Gosal; Kuntal K Das; Kamlesh S Bhaisora
Journal:  J Pediatr Neurosci       Date:  2019-09-27
  2 in total

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