Brachydactyly, Intraventricular Septal Defect, And Deafness

Clinical Features

Camera and Costa (1997) reported a 17-month-old boy with bilateral sensorineural hearing loss, perimembranous ventricular septal defect, and an unusual form of brachydactyly with marked brachymesophalangy of the second and fifth fingers and accessory phalanx interposed between the metacarpal and the proximal phalanx of the second digit on the left. The patient was the third child of healthy, unrelated parents; at the time of his birth, the father and the mother were 38 and 31 years old, respectively. The authors suggested that this complex may be a distinct genetic syndrome of multiple congenital abnormalities.