Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation

Lynch and Bushby (1997) reported an 8-year-old boy with obesity, mental retardation, downslanting palpebral fissures, large ears, sensorineural deafness, cryptorchidism, and a penoscrotal web. He had congenital emphysema, and the upper lobe of his left lung was removed. He was born to healthy, unrelated parents and had a normal karyotype. Lynch and Bushby (1997) excluded Prader-Willi syndrome (176270). They suggested that this association may be a previously unreported syndrome of multiple congenital abnormalities.