Galil A, Carmi R, Goldstein E, Porter B, Bar Ziv J, Chemke J
Center for Child Development, Soroka University Hospital, Beer Sheva, Israel.
Dev Med Child Neurol. 1991 Dec;33(12):1104-9. doi: 10.1111/j.1469-8749.1991.tb14834.x.
A child with the distinguishing characteristics of Weissenbacher-Zweymuller syndrome (WZS), a rare syndrome characterized by multiple skeletal and radiological abnormalities, dwarfism and developmental delays, was followed from birth to eight years. Follow-up showed that the radiographic anomalies eventually disappeared, and that height, motor, cognitive and language development returned to normal by eight years of age. The child's normal development at school age supports the theory that WZS is a dysmaturational, rather than dysplastic, syndrome. Diagnosis of the syndrome at birth is essential to ensure proper management of the child and counselling for the parents.
一名具有魏森巴赫-茨韦米勒综合征(WZS)显著特征的儿童,该罕见综合征的特点是存在多种骨骼和放射学异常、侏儒症及发育迟缓,从出生到8岁一直受到跟踪观察。随访显示,放射学异常最终消失,到8岁时身高、运动、认知和语言发育恢复正常。该儿童在学龄期的正常发育支持了以下理论:WZS是一种成熟障碍性而非发育异常性综合征。在出生时诊断该综合征对于确保对患儿进行妥善管理及为家长提供咨询至关重要。