Bobyn Amy, Jetha Mary, Frohlich Breanne, Campbell Sandra, Jaremko Jacob L, Caluseriu Oana, Grimbly Chelsey
Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Bone Rep. 2022 Feb 8;16:101171. doi: 10.1016/j.bonr.2022.101171. eCollection 2022 Jun.
Metaphyseal corner fractures and posterior rib fractures are thought to only occur in settings of inflicted injury. We describe a case of siblings who presented with metaphyseal corner fractures and multiple posterior rib fractures who were later found to carry mutations, a rare cause of Osteogenesis Imperfecta (OI) known as Bruck syndrome. This clinical presentation led to a literature review examining fracture types in OI and inflicted injury.
A 15-month-old male presented with multiple healing fractures of varying ages including posterior rib and metaphyseal corner fractures with no history of significant trauma. He had joint laxity, short stature and Wormian bones. His diagnosis of Bruck Syndrome led to investigations in his sibling at birth, which demonstrated the same fracture pattern including multiple posterior rib and metaphyseal corner fractures. They both had pathogenic compound heterozygous variants.
We performed a literature review evaluating the fracture pattern in cases investigated for inflicted injury and found to have OI. Fourteen articles reported 78 children with OI initially diagnosed as inflicted injury. Of these children, 71 (91%) were diagnosed with milder forms of OI (Sillence type I and IV). Sixty-four children (81%) had clinical signs of OI including blue sclera, dentinogenesis imperfecta, short stature, joint laxity and limb bowing. Fifteen (19%) children had fractures of high specificity for inflicted injury including metaphyseal corner fractures and posterior rib fractures and 58 (74%) had fractures of moderate specificity for inflicted injury such as bilateral fractures and fractures of different ages.
Metaphyseal corner fractures and posterior rib fractures are highly associated with inflicted injury, but they have been reported in children with OI. Bruck syndrome, a rare and severe form of OI can present with metaphyseal and posterior rib fractures, including at birth. When features of OI are present in children with metaphyseal corner fractures and/or posterior rib fractures are present, genetic testing may be warranted.
干骺端角部骨折和肋骨后部骨折被认为仅发生于受虐性损伤的情况下。我们描述了一例患有干骺端角部骨折和多处肋骨后部骨折的兄弟姐妹病例，后来发现他们携带突变，这是成骨不全症（OI）的一种罕见病因，称为布鲁克综合征。这种临床表现促使我们对OI和受虐性损伤中的骨折类型进行文献综述。
一名15个月大的男性患儿出现了多处不同愈合阶段的骨折，包括肋骨后部骨折和干骺端角部骨折，且无重大创伤史。他有关节松弛、身材矮小和缝间骨。他被诊断为布鲁克综合征，这促使在其同胞出生时进行了检查，结果显示出相同的骨折模式，包括多处肋骨后部骨折和干骺端角部骨折。他们两人均有致病性复合杂合变异。
我们进行了一项文献综述，评估最初被诊断为受虐性损伤但实际患有OI的病例中的骨折模式。14篇文章报道了78名最初被诊断为受虐性损伤的OI患儿。在这些患儿中，71名（91%）被诊断为较轻形式的OI（席尔恩斯I型和IV型）。64名患儿（81%）有OI的临床体征，包括蓝色巩膜、牙本质生成不全、身材矮小、关节松弛和肢体弯曲。15名（19%）患儿有高度提示受虐性损伤的骨折，包括干骺端角部骨折和肋骨后部骨折，58名（74%）患儿有中度提示受虐性损伤的骨折，如双侧骨折和不同年龄的骨折。
干骺端角部骨折和肋骨后部骨折与受虐性损伤高度相关，但在OI患儿中也有报道。布鲁克综合征是OI的一种罕见且严重的形式，可表现为干骺端和肋骨后部骨折，包括在出生时。当患有干骺端角部骨折和/或肋骨后部骨折的儿童出现OI特征时，可能有必要进行基因检测。
