Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Gene. 2013 Oct 15;529(1):176-80. doi: 10.1016/j.gene.2013.07.045. Epub 2013 Aug 7.
We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers-Danlos syndrome. However, his clinical findings are in fact correlated with trichorhinophalangeal syndrome type II/Langer-Giedion syndrome and Cornelia de Lange syndrome-4. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case.
我们报告了一例 19 岁男性患者，其具有皮肤和关节松弛、稀疏的头皮毛发、面部畸形、癫痫、多发性外生骨疣、脊柱侧凸、胃食管反流、心血管缺陷，以及通过阵列比较基因组杂交检测到的 8q23.3-q24.22 缺失。该患者先前被误诊为患有埃勒斯-当洛斯综合征。然而，他的临床表现实际上与 trichorhinophalangeal 综合征 II 型/兰格-吉迪恩综合征和 Cornelia de Lange 综合征-4 相关。我们讨论了在这种情况下 TRPS1、RAD21、EXT1 和 KCNQ3 单倍体不足的基因型-表型相关性及其后果。
