Robertson S P, Dickens R, Savarirayan R, Rogers J G
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia.
Am J Med Genet. 1999 Mar 5;83(1):17-22.
A disorder affecting bone and cartilage growth is described in a mother and her 3-year-old son. A dysplastic process involving the vertebral bodies, most pronounced in the cervical region and leading to cervical dislocation in the first of these two patients, is the most significant complication of this disorder. This entity appears unrelated to other previously described skeletal dysplasias with cervical kyphosis as a major manifestation. This disorder is most likely autosomal dominant.
一名母亲及其3岁儿子被描述患有影响骨骼和软骨生长的疾病。椎体发育异常过程在这两名患者中最为明显，在颈椎区域最为突出，并导致其中一名患者颈椎脱位，是该疾病最严重的并发症。该疾病似乎与其他先前描述的以颈椎后凸为主要表现的骨骼发育异常无关。这种疾病很可能是常染色体显性遗传。
