Suresh Ss
Department of Orthopaedics Ibri Regional Referral Hospital, Ibri, Sultanate of Oman.
Indian J Orthop. 2008 Oct;42(4):474-6. doi: 10.4103/0019-5413.43399.
Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.
罗宾诺综合征是一种罕见的常染色体隐性中肢侏儒症，迄今为止文献报道的病例仅100多例。下肢不受影响，骨骼畸形通常局限于前臂、手部和脊柱背侧。在幼儿期，通过典型的“胎儿面容”外观很容易做出诊断，随着患者成长，这种面容会在一定程度上消失。作者报告了两例该综合征病例，伴有椎体节段性缺陷、肋骨融合以及典型的严重短肢畸形和面部特征。
