An 8.4-Mb 3q26.33-3q28 Microdeletion in a Patient with Blepharophimosis-intellectual Disability Syndrome and a Review of the Literature

Overview

Journal Clin Case Rep

Date 2016 Aug 16

PMID 27525095

Citations 5

Authors

Katrin Ounap

Sander Pajusalu

Olga Zilina

Tiia Reimand

Riina Zordania

Affiliations

Soon will be listed here.

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.

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