尺骨发育不全是一种罕见的纵向肢体缺陷,其中尺骨表现出不同程度的缺陷。这种情况通常与径向缺陷有关,在严重的情况下,后轴/尺骨手指减少。尺骨缺损是几种综合征畸形的一个组成部分,如Weyer的少指综合征,肢体/骨盆发育不全/发育不全综合征,和尺乳腺综合征.这里,我们报告了一名男孩的孤立性单侧尺骨缺陷,该男孩是近亲婚姻的产物。受试者表现出左臂的中膜缩短,zeugopod和autopod减少,和两个手指的前轴缺失。受影响肢体的其他发现是肘关节严重屈曲挛缩,缩小和狭窄的手掌,发育不良的数字,和倾斜。X线检查显示尺骨基本,发育不良和桡骨后脱位,拥挤的地毯,拇指和食指完全没有手指射线。尽管有这种异常,受试者可以很好地管理他的日常生活活动。我们提供了这种罕见肢体畸形的详细临床特征和鉴别诊断。
Ulnar hypoplasia is a rare longitudinal limb deficiency in which the ulna shows various degrees of deficiency. The condition is normally associated with radial defects, and in severe cases there is a reduction of postaxial/ulnar digits. Ulnar deficiency is an integral part of several syndromic malformations like Weyer\'s oligodactyly syndrome, limb/pelvis hypoplasia/aplasia syndrome, and ulnar-mammary syndrome. Here, we report an isolated unilateral ulnar deficiency in a boy who was a product of a consanguineous marriage. The subject demonstrated mesomelic shortening of the left arm with reduced zeugopod and autopod, and preaxial absence of two fingers. Additional findings in the affected limb were severe flexion contracture at the elbow joint, reduced and narrow palm, hypoplastic digits, and clinodactyly. Roentgenographic study revealed rudimentary ulna, dysplastic and posteriorly dislocated radius, crowding of carpals, and complete absence of digit rays of the thumb and index finger. Despite this anomaly, the subject could manage his daily life activities well. We present detailed clinical features and differential diagnosis of this rare limb malformation.