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Abstract：
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
摘要：
Potocki-Shaffer综合征（PSS，OMIM＃601224）是一种罕见的连续基因缺失综合征，由位于11p11.2p12上的基因单倍体不足引起。受影响的个体具有许多特征性特征，包括多个外生骨，双顶孔,泌尿生殖系统异常，低张力,发育迟缓,智力残疾。我们在这里报道了韩国首例8岁男孩通过高分辨率微阵列诊断为PSS的病例。最初的评估是在6个月大的时候进行的，因为有发育迟缓的历史，低张力,和畸形的脸。在颅骨X线片上发现了冠状颅骨融合和扩大的顶孔。6岁时，他有严重的全球发育迟缓。在放射学检查中发现了长骨的多个外生骨。根据临床和放射学特征，PSS被高度怀疑。随后，染色体微阵列分析在11p11.2[arr11p12p11.2(Chr11:39,204,770-47,791,278)×1]发现8.6Mb缺失。患者继续康复治疗，导致严重的发育迟缓。已监测多个外生体的进展。此案例证实并扩展了PSS遗传基础上的数据。在临床和放射学方面，伴有综合征特征的多个外生体瘤患者，包括颅面畸形和智力低下，应考虑PSS的诊断。
