Bart-Pumphrey Syndrome
摘要
Bart-Pumphrey syndrome is a rare genetic disorder that follows an autosomal-dominant inheritance pattern. It is characterized by several clinical features, including congenital deafness, palmoplantar hyperkeratosis, knuckle pads, and leukonychia (Al-Hamdi et al. 2020; Alexandrino et al. 2005). This condition is alternatively referred to as knuckle pads, leukonychia, and sensorineural deafness disorder (Al-Hamdi et al. 2020). As far as current knowledge is concerned, the syndrome in question has only been reported in a limited number of families across the globe (Bart and Pumphrey 1967). As mentioned, its exact prevalence is unknown.