Schantz K, Andersen P E, Justesen P
Department of Orthopedics, Odense University Hospital, Denmark.
Acta Orthop Scand. 1988 Dec;59(6):716-9. doi: 10.3109/17453678809149433.
We present a clinical and radiographic study of a family with the autosomal dominant form of spondyloepiphyseal dysplasia tarda, in some patients associated with hearing deficiency. Although no causal treatment is possible, correct diagnosis is important to avoid unnecessary treatment and for information about prognosis, genetic counseling, and recommendation of future occupation.
我们展示了一项针对迟发性脊椎骨骺发育不良常染色体显性遗传形式家族的临床及影像学研究,部分患者伴有听力缺陷。尽管尚无因果性治疗方法,但正确诊断对于避免不必要的治疗以及获取预后信息、遗传咨询和未来职业建议而言至关重要。