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Early Intervention In A Child With Aymé-Gripp Syndrome: A Case Report, Liang-Jun Ou-Yang, Pei-Hsuan Huang, Hsiang-Ning Chang, Chih-Chi Chen, Chia-Ling Chen, Chia-Ying Chung

Rehabilitation Practice and Science

Aymé-Gripp syndrome is an autosomal dominant inherited disease. The de novo pathogenic variant of the MAF gene, located at 16q23.2, is considered the primary common cause of this disease. The pathogenic variant causes interference with lens and eye development and embryonic development. Patients with Aymé-Gripp syndrome typically present with bilateral cataracts, bilateral congenital sensorineural hearing loss, and Down syndrome-like facial features. Dual sensory impairment is observed in these patients. Delayed developmental milestones in the aspect of gross motor, fine motor, speech, and language, cognitive function, and social interaction can be detected early in life. Here we presented a 4-year-old male …