Peters plus syndrome.

Abstract

A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and mental retardation. The presence of a Peters' anomaly, mental retardation, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome. Analysis of his genomic DNA revealed a homozygous deletion in the beta1,3-galactosyltransferase-like gene (B3GALTL), a recently identified gene.

• Authors: Seema Kapoor, Sharmila Banerjee Mukherjee, Ritu Arora, Daraius Shroff
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 75 Issue 6 Pg. 635-7 (Jun 2008) ISSN: 0973-7693 [Electronic] India
• PMID: 18759095 (Publication Type: Case Reports, Journal Article)

Chemical References

• B3GLCT protein, human
• Galactosyltransferases
• Glucosyltransferases

Topics

• Abnormalities, Multiple (genetics)
• Child
• Galactosyltransferases (genetics)
• Gene Deletion
• Glucosyltransferases
• Humans
• India
• Intellectual Disability (genetics)
• Male
• Mutation (genetics)
• Syndrome