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Male, age 8 who is larger than average (macrosomia) and has atypical facial features (including a large birthmark on his forehead (glabellar hemangioma)), a decrease in brain white matter (cerebral white matter atrophy), and learning difficulties
|Date of Report||July 1, 2016|
Since infancy, the patient’s height, weight and head circumference have been above the 95th percentile, and X-rays have shown advanced bone age. He had two heart problems (ventricular septal defect, patent ductus arteriosus) that resolved on their own. At age 5, he was diagnosed with weak cartilage in the walls of his trachea and bronchial tubes (tracheomalacia and bronchomalacia). Currently he has a slightly prolonged QT interval, sleep apnea, and elevated liver enzymes (transaminases).
The patient also has atypical facial features, including a large birthmark on his forehead (glabellar hemangioma), widely spaced eyes (hypertelorism), a flat nasal bridge, slightly downslanting eyes (palpebral fissures), and small ears. He also has multiple small birthmarks (capillary hemangiomas) on his chest, upper arms, and neck.
Developmentally, the patient has shown learning difficulties and had mild developmental delays.
|Previously Considered Diagnoses||
|Genetic Variants of Interest||Clinicians and researchers have identified the following de novo genetic change as the cause of the patient’s symptoms (Shashi et al, 2016 ):|
|Gene||Inheritance Pattern||Position||Transcript||DNA Change||Protein Change|
GeneCards: GC02M025733 NCBI Gene: 55252 OMIM: 612991 UniProtKB/Swiss-Prot: Q76L83
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