Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.

ABSTRACT:

Background

22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported. However Dup22q11.2 should have a similar prevalence of DiGeorge syndrome (1 in each 4000 new-borns), in which the same chromosomal region that is duplicated in Dup22q11.2 is deleted.

Case presentation

We report a patient with intellectual disability, psychomotor development delay, hearing loss with disyllable pronunciation only, hyperactivity, self-harm, hetero-aggressive behaviour, facial dysmorphism, left facial

SUBMITTER: Valencia-Pena C 

PROVIDER: S-EPMC7433184 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature