Choi Won Bok, Seo Seung Hyeon, Yoo Woo Hyun, Kim Su Young, Kwak Min Jung
Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea.
Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.
Ann Pediatr Endocrinol Metab. 2015 Sep;20(3):162-5. doi: 10.6065/apem.2015.20.3.162. Epub 2015 Sep 30.
Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by SHOX gene mutation analysis in Korea. The patient, who was a 7-year-old female, showed short stature. Her height and weight were 108.9 cm (<3rd percentile) and 19.7 kg (5th-10th percentile), respectively. Her arm span, height of trunk, leg length, and sitting length were 100.5 cm, 58 cm, 50.9 cm, and 62.5 cm, respectively. Her body proportion was 1.13:1. Extremities to trunk ratio was 2.61. Her hand radiograph showed Madelung deformity. And the growth hormone stimulation test showed a normal response. Furthermore, because of Madelung deformity with idiopathic short stature, she was suspected of SHOX deficiency. We performed SHOX gene mutation analysis and found a c.491G>A (p.W164X) mutation of the SHOX gene. Accordingly, this patient was diagnosed with Leri-Weill dyschondrosteosis. Recently, many mutations have been reported in the SHOX gene. However, to date, mutation analysis of the SHOX gene for Leri-Weill dyschondrosteosis has not been reported in Korea as yet. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of the SHOX gene.
莱里-韦尔软骨发育不全症的特征是矮小同源盒基因（SHOX）缺乏、马德隆畸形和中肢短小身材。此外，SHOX缺乏与特发性矮小症、特纳综合征和朗格中肢发育不良有关。我们报告了韩国首例经SHOX基因突变分析确诊的莱里-韦尔软骨发育不全症患者。该患者为一名7岁女性，身材矮小。她的身高和体重分别为108.9厘米（低于第3百分位数）和19.7千克（第5至第10百分位数）。她的臂展、躯干高度、腿长和坐高分别为100.5厘米、58厘米、50.9厘米和62.5厘米。她的身体比例为1.13:1。四肢与躯干的比例为2.61。她的手部X光片显示出马德隆畸形。生长激素刺激试验显示反应正常。此外，由于患有马德隆畸形和特发性矮小症，她被怀疑存在SHOX缺乏。我们进行了SHOX基因突变分析，发现SHOX基因存在c.491G>A（p.W164X）突变。因此，该患者被诊断为莱里-韦尔软骨发育不全症。最近，SHOX基因已报道了许多突变。然而，迄今为止，韩国尚未报道过针对莱里-韦尔软骨发育不全症的SHOX基因突变分析。我们报告了首例经SHOX基因突变分析确诊的莱里-韦尔软骨发育不全症患者。
