Shortened metacarpals - Turner syndrome

Case contributed by Cristina Ferreira
Diagnosis certain

Presentation

Withheld.

Patient Data

Age: 35 years
Gender: Female

All metacarpals are shortened.

Case Discussion

The patient had a history of Turner syndrome, type 1 diabetes mellitus, hypothyroidism and celiac disease.

It is known that the shortening of the 4th and 5th metacarpals is seen in a variety of conditions including 1:

  • idiopathic

  • post-traumatic

  • post-infectious

  • Turner syndrome

  • pseudohypoparathyroidism

  • basal cell nevus syndrome - Gorlin syndrome

  • sickle cell disease with secondary infarction

  • hereditary multiple exostosis syndrome

  • homocystinuria

  • Langer- Giedion syndrome.

In addition, the shortening of isolated 5th metacarpals has recently been described in a family of variant type 1 diabetes mellitus 2.

This patient is a particular case, which presents with all metacarpals shortening and not only the fourth and fifth, in association with a set of possible diseases that promote shortened metacarpals.

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