[Ophthalmologic signs in a KBG syndrome, a rare genetic disease].

Abstract

KBG syndrome, named after the initials of the first 3 families reported, is a rare genetic syndrome caused by a deletion or a mutation of ANKRD11 (ankyrin repeat domain-containing protein 11) gene. Its prevalence is probably underestimated because of a variable expressivity; moreover, most of its clinical characteristics are not specific. There is no consensus about its diagnostic criteria. Ophthalmologic manifestations have sometimes been described among more frequent clinical signs. Early detection is critical and multidisciplinary care is requested in order to ensure the patient's independence. We report the case of a 16 years old boy diagnosed with a KBG syndrome after more than one year of genetic research, motivated by a short stature, high refractive errors and bilateral corneal clouding.

• Authors: G Nizette, B Duchesne
• Journal: Revue medicale de Liege (Rev Med Liege) Vol. 76 Issue 7-8 Pg. 625-628 (Jul 2021) ISSN: 0370-629X [Print] Belgium
• Vernacular Title: Manifestations ophtalmologiques dans un syndrome KBG, une maladie génétique rare.
• PMID: 34357716 (Publication Type: Case Reports)

Chemical References

• Repressor Proteins

Topics

• Abnormalities, Multiple
• Adolescent
• Bone Diseases, Developmental
• Chromosome Deletion
• Facies
• Humans
• Intellectual Disability
• Male
• Phenotype
• Repressor Proteins (genetics)
• Tooth Abnormalities