16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency

The thirteen-year-old girl was born to healthy non-consanguineous parents, after normal pregnancy and delivery. The patient had a history of hypotonia during the first months of life, with torticollis and plagiocephaly. She had a global motor delay and delayed speech and language development. On examination, the patient showed macrocephaly, short stature, synophrys, long palpebral fissures, thin upper lip vermilion, low-set ears, short neck, cubitus valgus, pes planus and valgus and brachydactyly.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research