부산대학교 도서관

We report on a father and son with facioaudiosymphalangism syndrome, an alternative designation for multiple synostoses syndrome, type I. This syndrome includes synostosis, brachydactyly, craniofacial dysmorphic features, stapes fixation, hyperopia, and growth retardation. In contrast to the typical presentation, the height of the 10yearold son was above the 97th centile from the age of 3.5 years and he had markers of an activated bone metabolism. The father and son had a novel heterozygous missense mutation c.696C > G, p.Cys232Trp, in the NOGgene. While not yet described in human NOGrelated disorders, there is experimental evidence that suppression of noggin might accelerate osteogenesis, which could explain the phenotype in the family reported here. © 2010 WileyLiss, Inc.