Traduction de «Burton skeletal dysplasia » (Anglais → Néerlandais) :

Burton skeletal dysplasia
syndroom van Schwartz-Jampel

Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with disloca
omodysplasie

A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this synd
Eiken-syndroom