Congenital Anomalies of the Extremities Occurring in Siblings

J Hand Surg Asian Pac Vol. 2016 Feb;21(1):49-53. doi: 10.1142/S2424835516500065.

Abstract

Background: 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.

Methods: In the present study we reviewed cases of their occurrence in siblings that we encountered in our department, and we investigated their characteristics.

Results: 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.

Conclusions: 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.

Keywords: Congenital anomalies; Familial occurrence; Siblings.

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Heredity*
  • Humans
  • Infant
  • Infant, Newborn
  • Limb Deformities, Congenital / genetics*
  • Male
  • Physical Examination
  • Retrospective Studies
  • Siblings*