Takagi Takehiko, Seki Atsuhito, Mochida Joji, Takayama Shinichiro
* Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Kanagawa, Japan.
† Department of Orthopaedic Surgery, National Center for Child Health and Development, Tokyo, Japan.
J Hand Surg Asian Pac Vol. 2016 Feb;21(1):49-53. doi: 10.1142/S2424835516500065.
When examining children with congenital anomalies of the extremities, it is not uncommon for parents to ask about the possibility of similar anomalies occurring in their next child. However, the inheritance of the disease in many congenital anomalies of the extremities has never been elucidated.
In the present study we reviewed cases of their occurrence in siblings that we encountered in our department, and we investigated their characteristics.
The results did not reveal any disease specificity, but a tendency for bilateral cases and male cases (cases in brothers) to be more common was observed.
In recent years there have been reports of the discovery of causative genes in some congenital anomalies, but because cases of occurrence in siblings with no familial occurrence in the past are seen, there may be a variety of causative genes in many congenital anomalies. In the present study there were many male cases (cases in brothers) and many bilateral cases, and there appears to have been a strong possibility of familial occurrence in such cases, but there were also quite a few exceptions. It is necessary to bear the possibility of heredity in mind in every case and provide the parents with an explanation.
在检查患有肢体先天性畸形的儿童时，家长询问其下一胎出现类似畸形的可能性并不少见。然而，许多肢体先天性畸形疾病的遗传方式尚未阐明。
在本研究中，我们回顾了在我科遇到的同胞中出现这些疾病的病例，并对其特征进行了调查。
结果未显示出任何疾病特异性，但观察到双侧病例和男性病例（兄弟中的病例）更为常见的趋势。
近年来，有报道称在一些先天性畸形中发现了致病基因，但由于存在过去无家族发病史的同胞发病病例，许多先天性畸形可能存在多种致病基因。在本研究中，男性病例（兄弟中的病例）和双侧病例较多，此类病例似乎很有可能存在家族发病情况，但也有不少例外。在每一个病例中都有必要考虑遗传的可能性并向家长作出解释。
