Мы используем файлы cookie.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.
Metaphyseal chondrodysplasia Schmid type
Другие языки:

Metaphyseal chondrodysplasia Schmid type

Подписчиков: 0, рейтинг: 0
Schmid metaphyseal chondrodysplasia
Other names MCDS
Autosomal dominant - en.svg
This condition is inherited in an autosomal dominant manner.
Specialty Orthopedic

Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1.

Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels. Long bones are short and curved, with widened growth plates and metaphyses.

It is named for the German researcher F. Schmid, who characterized it in 1949.

External links



Новое сообщение