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Generalised skeletal defect
Musculo-skeletal defect

Traduction de «generalised skeletal defect » (Anglais → Français) :

generalised skeletal defect

atteinte générale du squelette




Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogen

pycnoachondrogénèse


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 mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardi

déficit combiné de la phosphorylation oxydative type 8




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Date index: 2024-01-26
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