Chapter

Peters Plus Syndrome

Saskia A. J. Lesnik Oberstein, Martine J. Van Belzen and Raoul C. M. Hennekam

in Epstein's Inborn Errors of Development

Third edition

Published on behalf of Oxford University Press

Published in print June 2016 | ISBN: 9780199934522
Published online July 2016 | e-ISBN: 9780190213534 | DOI: https://dx.doi.org/10.1093/med/9780199934522.003.0168

Series: Oxford Monographs on Medical Genetics

Peters Plus Syndrome

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Peters Plus syndrome (PPS) is a multiple congenital malformation syndrome characterized by abnormalities of the anterior chamber of the eye, disproportionate short stature and characteristic facial signs. Multiple other congenital malformations, such as cleft lip/palate, and a variable developmental delay are associated with PPS. PPS follows an autosomal recessive pattern of inheritance and is caused by loss-of-function mutations in B3GALTL.No genetic heterogeneity is known in PPS. B3GALTL encodes the B3GALTL protein, a glucosyltransferase. Therefore, PPS is one of the large group of congenital disorders of glycosylation. The prevalence of PPS is unknown, but ~100 patients have been reported in the literature to date, from varying ethnic backgrounds.

Chapter.  2059 words.  Illustrated.

Subjects: Clinical Genetics

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