lethal skeletal dysplasia

Lethal skeletal dysplasias form a heterogeneous group which are commonly characterized being non-survivable for prolonged periods ex-utero. They include:

• achondrogenesis
• atelosteogenesis
• campomelic dysplasia
• chondrodysplasia punctata: lethal variants 
• metatropic dysplasia: lethal variants
• Pacman dysplasia 
• perinatal lethal hypophosphatasia: primarily a metabolic abnormality but has major skeletal manifestations
• osteogenesis imperfecta type II: 2 commonest lethal skeletal dysplasia
• thanatophoric dysplasia: commonest lethal skeletal dysplasia
• short rib polydactyly syndromes (SRPS) 

Siehe auch:

• Osteogenesis imperfecta
• Chondrodysplasia punctata
• Thanatophore Dysplasie
• Kurzripp-Polydaktylie-Syndrome
• camptomelic dysplasia
• Achondrogenesie
• Atelosteogenesis
• perinatal lethal hypophosphatasia

und weiter:

• Skelettdysplasie