Congenital hypothyroidism with isolated fibula agenesis

[ N/A ]

Tarih

2010

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

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.

Açıklama

Anahtar Kelimeler

Congenital hypothyroidism, Isolated fibula agenesis, Mental retardation

Kaynak

Nobel Medicus

WoS Q Değeri

Scopus Q Değeri

Q4

Cilt

6

Sayı

2

Künye