An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature. Issue 8 (22nd July 2016)

• Record Type: Journal Article
• Authors: Õunap, Katrin; Pajusalu, Sander; Zilina, Olga; Reimand, Tiia; Žordania, Riina
• Is Part Of: Clinical case reports. Volume 4:Issue 8(2016)
• Page Start: 824
• Page End: 830
• Publication Date: 2016-07-22
• Subjects: 3q26.33‐3q27.2 microdeletion -- 3q27.3 microdeletion -- blepharophimosis -- intellectual disability -- Ohdo syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.632
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.