Maroteaux Verloes Stanescu syndrome
Overview
A very rare syndrome where abnormal bone development starts early in life and is fairly severe but after a few years, the bones return to almost normal. Adult height is nearly normal and bowed limbs usually straighten
Symptoms
* Mild short stature * Bowed legs
Causes
* 1q deletion * 1q proximal deletion * 2q deletion * 3-methylglutaconic aciduria, type 1 * 49,XXXXY syndrome