Fractures at diagnosis in infants and children with osteogenesis imperfecta.
Fractures at diagnosis in infants and children with osteogenesis imperfecta.
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患有成骨不全的婴儿和儿童的骨折诊断。
DOI：
10.1097/bpo.0b013e318279c55d
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Mazur,Lynnette
中科院分区：
文献类型：
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作者：
Greeley,ChristopherS;Donaruma-Kwoh,Marcella;Vettimattam,Melanie;Lobo,Christine;Williard,Coco;Mazur,Lynnette
背景：在婴儿和儿童不明原因的骨折中，成骨障碍（OI）通常被认为是一种潜在的病因。在患有OI的婴儿和儿童中，关于诊断时观察到的骨折模式，已发表的文献中存在差距。作为对OI诊断的额外辅助，我们试图描述婴儿和儿童在诊断时的骨折模式。方法：我们对一系列18岁以下诊断为OI的婴儿和儿童进行了回顾性图表分析结果：我们确定了68名患有OI的婴儿和儿童：1型23例（34%），2型1例（2%），3型17例（25%），4型24例（35%），未知型3例（4%）。46%的儿童有OI家族史。49例（72.0%）患者仅根据临床特征进行诊断，而没有遗传学或成纤维细胞确认。21%的受试者发现肋骨骨折，婴儿期未发现肋骨骨折。诊断时发现的骨折数量范围为1至> 37，7例（10%）有2处以上骨折。所有发生2处以上骨折的受试者均在产前或新生儿早期诊断。17名（25%）婴儿在1周龄后但在12个月龄前被诊断出。这些婴儿都没有肋骨骨折或超过1个骨折的诊断时间。结论：大多数儿童诊断为OI的诊断仅由临床特征。在OI诊断时，骨折模式各不相同，10%的患者有2处以上骨折。在43%的儿童中，OI的诊断是在子宫内或分娩时作出的。婴儿多发性肋骨骨折是OI的意外发现。证据等级：III级。在出现不明原因或多发性骨折的婴儿或儿童中，鉴别诊断包括婴儿或儿童有骨骼骨折的固有倾向，1，2其中最常见的是成骨不全（OI）。3
Background:In infants and children with fractures from an unclear cause, osteogenesis imperfecta (OI) is often included as a potential etiology. In infants and children with OI there exists a gap in the published literature regarding the fracture pattern seen at the time of diagnosis. As an additional aid to the diagnosis of OI, we sought to characterize the fracture patterns in infants and children at the time of their diagnosis.Methods:We performed a retrospective chart review of a series of infants and children under 18 years of age who have the diagnosis of OI (any type) from a single institution.Results:We identified 68 infants and children with OI: 23 (34%) type 1, 1 (2%) type 2, 17 (25%) type 3, 24 (35%) type 4, and 3 (4%) unknown type. A family history of OI was present in 46% of children. Forty-nine (72.0%) patients were diagnosed solely on clinical characteristics, without genetic or fibroblast confirmation. Rib fractures were noted in 21% of the subjects with none being identified during infancy. The number of fractures identified at diagnosis ranged from 1 to> 37 with 7 (10%) having more than 2 fractures. All subjects with more than 2 fractures were diagnosed prenatally or in the immediate newborn period. Seventeen (25%) infants were diagnosed after 1 week of age but before 12 months of age. None of these infants had either rib fractures or more than 1 fracture at the time of diagnosis.Conclusions:The majority of children diagnosed with OI are diagnosed by clinical features alone. The fracture pattern at the time of diagnosis in OI is variable with 10% having more than 2 fractures. The diagnosis of OI was made in utero or at delivery in 43% of children. Multiple rib fractures in an infant would be an unexpected finding in OI.Level of Evidence:Level III.In infants or children who present with unexplained or multiple fractures, the differential diagnosis includes the infant or child having an inherent predisposition to skeletal fractures, 1, 2 the most common of which is osteogenesis imperfecta (OI). 3