A case of multiple congenital anomalies including unusual ear nodules and finger contractures: A new genetic syndrome?

摘要

We describe a male patient who has an unusual combination of birth defects that, to our knowledge, have not been reported previously (Figs 1-4)- He has multiple ear anomalies including underdeveloped, low-set, and cupped ears, with unique bilateral superior helical nodules, hypoplastic antihelices, stenosis of the ear canal, and bilateral hearing loss. In addition, he has multiple digital defects including bilateral finger con-tractures of the first and second digits, syndactyly of the left second and third digits, bilateral hypoplastic thumbs, and bilateral widening between the first and the second toes. Other anomalies include brachycephaly, bilateral renal hypoplasia, genital anomalies including micropenis, redundant scrotal skin, and bilateral cryptorchidism, and short stature. He has experienced developmental delay, but appears to have normal intellectual abilities, although no formal testing has been performed. The combination of these features appears to represent a new dysmorphic syndrome.