GAPO syndrome with deafness

Abstract

Case report A 5-year-old girl born of third degree consanguineous parents presented with a history of complete loss of hair and deafness since 4 months of age. There was also a history of progressive visual loss since the age of 2 years, poor growth of prenatal onset, and mild developmental delay. She had complete absence of dentition. Sweating was normal and there was no history of seizures. On examination, her height was 83.5 cm (– 5 SD), weight was 11 kg (– 3 SD), and head circumference was 45 cm (third percentile). She had complete absence of scalp and facial hair. Prominent subcutaneous veins were visible on the scalp and trunk, but there was no palmoplantar keratoderma or other skin lesions. Her nails were normal. Her facies were coarse with frontal bossing, periorbital puffiness, and thick lips. Her midface was flattened and she had micrognathia. She also demonstrated nystagmus. The rest of her systemic examination was unremarkable (Fig. 1).