Stanković B, Krstić V, Stankov B, Jojić L, Nagulić M, Artiko G
Department of Ophthalmology, University Clinical Centre, Belgrade, Yugoslavia.
Doc Ophthalmol. 1994;85(3):281-6. doi: 10.1007/BF01664936.
A family with 15 individuals in four successive generations affected by Jackson-Weiss syndrome, craniosynostosis with Crouzon-variant-like phenotype and feet's abnormalities, is presented. An autosomal dominant inheritance pattern with complete penetrance, variable expressivity, and wide intrafamilial variation, more among, less within the same generation, was observed. Concerning the frequency and severity of complications, the evolution of craniofacial deformities seems to parallel those described with Crouzon syndrome, suggesting the similar evaluation and management.
本文介绍了一个家族,该家族四代共15人受杰克逊-韦斯综合征影响,表现为颅骨缝早闭伴克鲁宗样变异型表型和足部异常。观察到一种常染色体显性遗传模式,具有完全外显率、可变表达性和家族内广泛变异,同一代内变异较少,代际间变异较多。关于并发症的频率和严重程度,颅面畸形的发展似乎与克鲁宗综合征中描述的情况相似,提示评估和管理方法也应相似。