Hirst Lorna, Abou-Ameira Gehan, Critchlow Simon
Dental and Maxillofacial Department, Great Ormond Street Hospital, Great Ormond Street, WC1N 3JH, UK.
Case Rep Pediatr. 2021 Jan 7;2021:6637180. doi: 10.1155/2021/6637180. eCollection 2021.
Raine Syndrome (RS) also referred to as lethal osteosclerotic bone dysplasia describes an exceptionally rare autosomal recessive disorder with an estimated prevalence of <1 in 1,000,000. Endocrinological manifestations such as hypophosphataemic rickets depict a recent finding within the phenotypic spectrum of nonlethal RS. The dental sequelae of hypophosphataemic rickets are significant. Spontaneous recurrent abscesses on noncarious teeth result in significant odontogenic pain and multiple dental interventions. The dental presentations of nonlethal RS are less widely described within the literature. Amelogenesis Imperfecta (AI), however, was recently postulated as a key characteristic. This article presents the dental manifestations and extensive restorative and oral surgical intervention of three siblings with hypophosphataemic rickets secondary to Raine Syndrome treated at Great Ormond Street Hospital for Children, a tertiary referral hospital.
雷恩综合征（RS）也被称为致死性骨硬化骨发育异常，是一种极其罕见的常染色体隐性疾病，估计患病率小于百万分之一。诸如低磷性佝偻病等内分泌表现是在非致死性RS表型谱内的一项最新发现。低磷性佝偻病的牙齿后遗症很严重。非龋性牙齿上的自发性复发性脓肿会导致严重的牙源性疼痛和多次牙科干预。非致死性RS的牙齿表现较少在文献中被广泛描述。然而，牙釉质发育不全（AI）最近被认为是一个关键特征。本文介绍了在大奥蒙德街儿童医院（一家三级转诊医院）接受治疗的三名因雷恩综合征继发低磷性佝偻病的兄弟姐妹的牙齿表现以及广泛的修复和口腔外科干预情况。
