An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature

Clin Case Rep. 2016 Jul 22;4(8):824-30. doi: 10.1002/ccr3.632. eCollection 2016 Aug.

Abstract

3q26.33-3q27.2 microdeletion can be classified as a clinical entity characterized by intrauterine growth retardation, feeding problems in infancy, short stature, intellectual disability, hypotonia, dysmorphic facial features (medially sparse eyebrows, narrow horizontal palpebral fissures, epicanthal folds, flat nasal bridge and tip, short philtrum, and downturned corners of mouth), and teeth and feet abnormalities.

Keywords: 3q26.33‐3q27.2 microdeletion; 3q27.3 microdeletion; Ohdo syndrome; blepharophimosis; intellectual disability.

Publication types

  • Case Reports