Persiani Pietro, Ranaldi Filippo Maria, Martini Lorena, Zambrano Anna, Celli Mauro, D'Eufemia Patrizia, Villani Ciro
Universitary Department of Anatomic, Histologic, Forensic and Locomotor Apparatus Sciences-Section of Locomotor Apparatus Sciences, Sapienza University of Rome Center for Congenital Osteodystrophies, Pediatric Department-Policlinico Umberto I, Italy.
Medicine (Baltimore). 2016 Aug;95(31):e4505. doi: 10.1097/MD.0000000000004505.
Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized. Patients with OI suffer from extreme bone fragility and osteoporosis, which often predisposes them to frequent fractures. This paper presents the case of a child with OI type IV who, at birth, was also diagnosed with a severe clubfoot (congenital talipes equinovarus) grade III. Patient's mother also suffers from OI type IV.
The treatment was started by placing femoro-podalic corrective casts, according to the Ponseti method, but some unexpected problems occurred during this treatment. When the patient was 3 months of age, we decided to correct the clubfoot before the time limit planned, performing a bilateral posteromedial surgical release.
Three weeks after surgery the casts were removed and replaced with bilateral Spica cast-like braces. On the 6th postoperative week, the patient began wearing Bebax corrective shoes, after 1 year ambidextrous orthopedic shoes. Now, he is 2 years old and has started to walk properly without any orthesis.
In the presence of an orthopedic pathology associated with OI, it is recommended to manage the patient according to the underlying pathology, always considering the bone fragility associated with OI. The final surgical treatment to correct the clubfoot can be done earlier, if necessary. In our opinion, this uncommon association between OI and clubfoot is non-syndromic. This means that the two congenital diseases are not necessarily included in a singular uncommon genetic syndrome, but the clubfoot was caused by multifactorial causes, especially by both the mother's bisphosphonate drug therapy and the amniocentesis performed during her pregnancy to drain polyhydramnios. In our analysis, those environmental factors could have interacted with an already altered genetic substratum, contributing to develop this rare combination of congenital disorders.
成骨不全症（OI）是一种罕见的先天性遗传性骨发育不良，发病率为1:20000。OI由COL1A1/COL1A2基因突变引起，导致1型前胶原合成的质量和/或数量不足。Sillence和Glorieux对七种不同临床类型进行了分类，不过最近已识别出多达11种由不同基因突变特征的类型。OI患者患有极度的骨脆性和骨质疏松症，这常使他们易发生频繁骨折。本文介绍了一名IV型OI患儿的病例，该患儿出生时还被诊断为重度III级马蹄内翻足（先天性马蹄内翻足）。患儿母亲也患有IV型OI。
按照庞塞蒂方法放置股骨-足部矫正石膏开始治疗，但在此治疗过程中出现了一些意外问题。当患儿3个月大时，我们决定在计划的时间限制之前矫正马蹄内翻足，进行双侧后内侧手术松解。
术后三周拆除石膏，换为双侧人字形石膏样支具。术后第6周，患儿开始穿Bebax矫正鞋，1年后穿双侧矫形鞋。现在，他2岁，已开始正常行走，无需任何矫形器。
对于伴有OI的骨科疾病，建议根据潜在疾病进行治疗，始终考虑与OI相关的骨脆性。如有必要，矫正马蹄内翻足的最终手术治疗可提前进行。我们认为，OI与马蹄内翻足这种不常见的关联是非综合征性的。这意味着这两种先天性疾病不一定包含在单一罕见的遗传综合征中，而是马蹄内翻足由多因素引起，特别是母亲的双膦酸盐药物治疗以及她孕期为引流羊水而进行的羊膜穿刺术。在我们的分析中，这些环境因素可能与已经改变的遗传基质相互作用，促成了这种罕见的先天性疾病组合的发生。
