lethal skeletal dysplasia
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Lethal
skeletal dysplasias • Short rib polydactyly syndrome - Ganzer Fall bei Radiopaedia
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Thanatophoric
dysplasia • Thanatophoric dysplasia - Ganzer Fall bei Radiopaedia
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:
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