Cranioectodermal dysplasia

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

Rhizomelia

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).


Total: 0

                      


(per page)
PMID (PMCID)