Peters Plus syndrome: a recognizable clinical entity

Abstract

Peters plus syndrome is a rare genetic condition wherein multiple systemic involvement with distinctive facial features are manifested, whilst the hallmark is Peters anomaly, occuring from anterior segment dysgenesis. Homozygous variants in the B3GLCT gene were identified to underlie this disorder. We here report on a onemonth-old female patient with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected.

Fetal central nervous system anomalies: When should we offer exome sequencing?

“…The B3GLCT gene variants causes Peters plus syndrome which is characterized by eye abnormalities, short stature, intellectual disability, ventriculomegaly and distinctive facies 16 . This case had compound heterozygous, autosomal recessive inheritance and the family had terminated a prior pregnancy due to ventriculomegaly.…”

“…In the original PAGE study this was initially reported as 'potentially clinically relevant' because the contribution to the phenotype which commonly includes choanal atresia, malformations of the heart, inner ear and retina, 15 The B3GLCT gene variants causes Peters plus syndrome which is characterized by eye abnormalities, short stature, intellectual disability, ventriculomegaly and distinctive facies. 16 This case had compound heterozygous, autosomal recessive inheritance and the family had terminated a prior pregnancy due to ventriculomegaly.…”

Peter’s anomaly—A homeotic gene disorder

“…The association of Peter's anomaly along with short stature, rhizomelia, broad short hands or brachydactyly, with facial dysmorphism, cleft lip, cleft palate, genitourinary and cardiovascular anomalies is a distinct and is often termed Peter's plus syndrome 10,11 . Here, the condition is often autosomal recessive due to homozygous mutations in B3GLCT 10–12 . This results in loss of glycosylation of the beta 1,3 glucosyltransferase enzyme 13 …”

“…In Peter's anomaly, this separation does not happen and this results in the corneal opacification and variable degree of irido‐corneal and corneolenticular adhesions. Mutations in the B3GLCT ( B3GALTL ) gene on chromosome 13q12.3 have been identified with Peter's plus anomaly 9–12 …”

“…Mutations in the B3GLCT (B3GALTL) gene on chromosome 13q12.3 have been identified with Peter's plus anomaly. [9][10][11][12] There is a deficiency of the central posterior corneal stroma, endothelium and Descemet membrane. 5,13,14 There is also irido-corneal synechiae, and Bowman's layer can be absent or hyperplastic.…”