Lorina Castelino Renita, Ram Shetty Shishir, Babu G Subhas, Arvind Rao H T Kumuda
Post-graduate Student, Department of Oral Medicine and Radiology, A.B Shetty Memorial Institute of Dental Sciences, Mangalore, India.
J Dent Res Dent Clin Dent Prospects. 2010 Fall;4(4):136-9. doi: 10.5681/joddd.2010.033. Epub 2010 Dec 21.
The oromandibular-limb hypogenesis syndrome comprises a group of anomalies which simultaneously affect the mandible, tongue, and maxilla with or without reductive limb anomalies. It is characterized by failure of development of the intraoral region and distal extremities. Multiple and variable deformities of the mandible, maxilla and tongue may occur in combination with a variety of limb defects. The wide range of presentation and combination of anomalies make classification difficult. They usually feature primarily in sporadic case reports because of their low incidence. The genetic origin of this syndrome is uncertain. It is congenital and there seems to be no sex predilection. The key radiographic features are retruded mandible, impacted teeth and malformed phalanges. When compared to available literature, frequently reported features like hypodontia, hypoglossia, microstomia, protruded maxilla and limb anomalies were present in our case. The case presented here is one of the rarest subtypes of this rare syndrome.
口下颌肢体发育不全综合征包括一组异常情况，这些异常会同时影响下颌骨、舌头和上颌骨，伴有或不伴有肢体发育不全异常。其特征为口腔区域和远端肢体发育失败。下颌骨、上颌骨和舌头的多种及可变畸形可能与各种肢体缺陷同时出现。异常表现的广泛范围和组合使得分类困难。由于其发病率低，它们通常主要出现在散发病例报告中。该综合征的遗传起源尚不确定。它是先天性的，似乎没有性别倾向。关键的影像学特征是下颌骨后缩、牙齿阻生和指骨畸形。与现有文献相比，我们的病例中出现了如牙缺失、舌发育不全、小口畸形、上颌骨前突和肢体异常等经常报道的特征。这里呈现的病例是这种罕见综合征最罕见的亚型之一。
