摘要：We report a 6-year-old girl with multiple congenital anomalies compatible with Fraser syndrome (cryptophthalmos, syndactyly, and craniofacial abnormalities) and multiple urogenital abnormalities including unilateral renal agenesis resulting from mutations in the FRAS1 gene Exon58:C. 8698G-T (homozygous). The parents were heterozygous for the same mutation.
