Congenital Hypothyroidism With Isolated Fibula Agenesis

Abstract

Although congenital hypothyroidism is seen often as an isolated case, it can also be seen as a part of some syndromes like Schinzel-Giedion, Aicardi-Goutieres-like, cleidocranial dysplasia and deletion of 18q. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac heart diseases, skeletal abnormalities, Central nervous system and eye malformations. In this article, 11-years-old-girl with fibula agenesis associated with congenital hypothyroidism because of thyroid gland hypoplasia is presented. In our knowledge, both congenital hypothyroidism and isolated fibula agenesis have not been published before in the literature.