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Peters Plus Syndrome 

Peters Plus Syndrome
Chapter:
Peters Plus Syndrome
Author(s):

Saskia A. J. Lesnik Oberstein

, Martine J. Van Belzen

, and Raoul C. M. Hennekam

DOI:
10.1093/med/9780199934522.003.0168
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date: 16 September 2019

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.

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