Metaphyseal Dysostosis Type Schmid

Metaphysial Dysostosis, Type Schmid.

It is interesting to note the way in which medical knowledge has developed over the years with regard to diseases superficially akin to classical rickets. The first stage followed as a result of the disappearance, owing to the improved knowledge of nutrition, of classical rickets as a common source of bony deformity. This led to the clearer recognition of the remaining 'resistant' forms of rick...

Metaphyseal dysostosis.

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child.

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data

This study aimed to gain a better understanding of the molecular circuitry of Schmid-type metaphyseal chondrodysplasia (SMCD), and to identify more potential genes associated with the pathogenesis of SMCD. Microarray data from GSE72261 were downloaded from the NCBI GEO database, including collagen X p.Asn617Lys knock-in mutation (ColXN617K), ablated XBP1 activity (Xbp1CartΔEx2), compound mutant...