Novel X-linked mental retardation syndrome with short stature maps to Xq24

Microdeletions in the 22q11 region are associated with a wide range of overlapping phenotypes. The main manifestations of the syndrome include palatal anomalies such as cleft palate or velopharyngeal insufficiency, conotruncal heart defects, hypocalcemia, immune disorders, and minor facial anomalies. Because of the wide variability, facial changes appear to be the most constant manifestation of the syndrome and characteristic for informed physicians. The purpose of this study is to report the preliminary results of a detailed analysis of anthropometric data (35 measurements) in 15 patients (7 females and 8 males between 5 and 38 years of age, all white Europeans) with a 22q11 microdeletion. Objective anthropometric study showed that 19 measurements and 7 indexes were significantly different between 22q11 patients and normative database. The typical face showed a short forehead with an anterior vertical excess. Downslanting eyes and large binocular width were the most common anomalies in the orbital area. The nose showed anomalies with a large root, a short tip, and a narrow alar base. There was a narrowing of the mouth and thin lips. Ears were small and slightly disharmonic for the children. Statistical comparison between children (10 cases) and adults (5 cases) showed that craniofacial assessment was more demonstrative in children than in adults.