背景:手脚分裂畸形(SHFM)是一种先天性肢体缺损,会影响手和/或脚的中央射线。这是一种罕见的疾病,具有遗传和环境病因。它的严重程度取决于畸形的程度。我们报告了两个患有严重SHFM影响所有肢体的兄弟姐妹。
方法:我们描述了两个患有SHFM的兄弟姐妹的病例,并讨论了这种情况的可能原因。这项研究不需要伦理批准,因为该研究所不需要这种类型的研究。
结果:案例1是一个7岁的男孩,病例2是他4岁的弟弟.它们在医学上和手术上都是免费的。他们的生长发育正常,是近亲婚姻的产物。他们都表现为手和脚的双侧畸形,以前没有先天性异常的家族史。
结论:SHFM可能由于近亲婚姻而发生,基因突变,和化学暴露。遗传咨询和相关异常的全面评估是强制性的。
BACKGROUND: Split Hand-Foot malformation (SHFM) is a congenital limb defect that affects the central rays of the hands and/or feet. It is a rare condition that has genetic and environmental etiologies. It ranges in severity depending on the extent of the malformation. We report on two siblings with severe SHFM affecting all limbs.
METHODS: We described two cases of siblings with SHFM and discuss the possible causes of the condition. This research did not require ethical approval due to the institute not requiring it for this type of study.
RESULTS: Case 1 is a 7-year-old boy, and
case 2 is his 4-year-old brother. They are both medically and surgically free. They had normal growth and development and were products of a consanguineous marriage. They both presented with bilateral deformities of the hands and feet, and had no previous family history of congenital anomalies.
CONCLUSIONS: SHFM may occur as a result of consanguineous marriage, genetic mutation, and chemical exposure. Genetic counseling and thorough assessment of associated anomalies is mandatory.