Shanske Alan L, Puri Mala, Marshall Barbara, Saenger Paul
Center for Craniofacial Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA.
Horm Res. 2007;67(2):61-6. doi: 10.1159/000096087. Epub 2006 Oct 6.
BACKGROUND/AIM: It is known that haploinsufficiency for the SHOX gene (short-stature homeobox gene on the X chromosome) is responsible for short stature in Turner syndrome and Leri-Weill dyschondrogenesis, and it has been reported that it is responsible for upwards of 1 in 50 cases of idiopathic short stature. SHOX haploinsufficiency is also associated with various radiographic abnormalities, such as coarse trabecular pattern, short metacarpals/metatarsals with metaphyseal flaring, altered osseous alignment at the wrist, radial/tibial bowing, triangularization of the radial head, abnormal tuberosity of the humerus, and an abnormal femoral neck. Shortening and bowing of the radius and dorsal dislocation of the distal ulna characterize the Madelung deformity. These characteristic findings led us to do a study assessing the predictive value of certain radiographic features in association with genetic markers of idiopathic short stature.
Here we describe a case of a Hispanic male with idiopathic short stature and Madelung deformity with a novel mutation in the SHOX gene.
Additional studies revealed a strong family history of short stature and the same SHOX mutation segregating from the mother.
This case resulted in the description of a novel mutation in exon 5 (M202delA) and suggests the importance of screening for SHOX mutations in patients with idiopathic short stature with subtle radiographic abnormalities, including the components of the Madelung deformity in their bone age films.
背景/目的：已知SHOX基因（位于X染色体上的矮小同源框基因）单倍剂量不足是特纳综合征和莱里-韦伊软骨发育不全导致身材矮小的原因，并且有报道称，在五十分之一以上的特发性矮小病例中，它也是致病因素。SHOX单倍剂量不足还与各种影像学异常有关，如粗大的骨小梁模式、掌骨/跖骨短伴干骺端增宽、腕部骨排列改变、桡骨/胫骨弯曲、桡骨头三角化、肱骨结节异常以及股骨颈异常。桡骨缩短和弯曲以及尺骨远端背侧脱位是马德隆畸形的特征。这些特征性表现促使我们开展一项研究，评估某些影像学特征与特发性矮小基因标记物相关的预测价值。
在此，我们描述了一例患有特发性矮小和马德隆畸形的西班牙裔男性病例，其SHOX基因存在一种新的突变。
进一步研究发现其有明显的身材矮小家族史，且相同的SHOX突变来自母亲。
该病例发现了外显子5中的一种新突变（M202delA），提示对于患有特发性矮小且有细微影像学异常（包括骨龄片中马德隆畸形的组成部分）的患者，筛查SHOX突变具有重要意义。
