Items tagged “skeletal dysplasia”

Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive. Radiographic features severe neurologic impairment include small cerebellar vermis and dandy walker malformation cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognath...

Bent bone dysplasias are a class of skeletal dysplasia included in a 2010 classification of genetic skeletal disorders 1: campomelic dysplasia Stuve-Weidemann dysplasia kyphomelic dysplasias, a diverse class, including congenital bowing of the long bones cartilage-hair hypoplasia (CHH; meta...