Opsismodysplasia：磷酸盐性骨营养不良对双膦酸盐治疗有反应。
Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.
机构信息
Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington , Seattle, WA , USA.
Department of Radiology, Seattle Children's Hospital, University of Washington , Seattle, WA , USA.
出版信息
Front Pediatr. 2015 Jun 22;3:48. doi: 10.3389/fped.2015.00048. eCollection 2015.
UNLABELLED
We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed skeletal ossification, metaphyseal cupping, and postnatal micromelia. Respiratory compromise, delayed ambulation, and progressive lower extremity deformities are described. The severity of findings is variable. Renal phosphate wasting is associated with severe bone demineralization and a more severe phenotype. This report represents the first described cases of opsismodysplasia treated with intravenous bisphosphonate (pamidronate). Surgical management for lower extremity deformities associated with OPS is also reviewed.
LEVEL OF EVIDENCE
IV Case series.
未加标签
我们介绍了两名受 opsismodysplasia（OPS）影响的兄弟姐妹，这是一种罕见的骨骼发育不良，由肌醇多磷酸磷酸酶样 1 基因突变引起。骨骼表现包括出生后出现的身材矮小、短肢畸形、明显的扁平椎骨、掌骨方形、骨化延迟、干骺端杯状凹陷和出生后短肢畸形。描述了呼吸窘迫、行走延迟和进行性下肢畸形。发现的严重程度是可变的。肾磷酸盐丢失与严重的骨质脱矿和更严重的表型有关。本报告代表了首例接受静脉双膦酸盐（帕米膦酸）治疗的 opsismodysplasia 病例。还回顾了与 OPS 相关的下肢畸形的手术治疗。
证据水平
IV 病例系列。
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