Spondyloepiphyseal dysplasia, Omani type (Q88342): Difference between revisions
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Displasia espondiloepifisária, tipo Omani é uma forma de displasia espondiloepifisária (SED) caracterizada por baixa estatura com altura final de 110-130 cm, cifoescoliose grave e progressiva, alterações artríticas com luxações articulares (cotovelos, punhos, joelhos), membros rizomélicos, geno valgo, cúbito valgo, braquidactilia, camptodactilia, microdontia, inteligência normal e defeito do septo ventricular e surdez em casos isolados. | |||
| description / en | description / en | ||
Spondyloepiphyseal dysplasia, Omani type is a form of spondyloepiphyseal dysplasia (SED) characterised by short stature with final height of 110-130 cm, severe and progressive kyphoscoliosis, arthritic changes with joint dislocations (elbows, wrists, knees), rhizomelic limbs, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normal intelligence, and ventricular septal defect and deafness in isolated cases. | |||
Revision as of 14:32, 15 August 2026
Spondyloepiphyseal dysplasia, Omani type is a form of spondyloepiphyseal dysplasia (SED) characterised by short stature with final height of 110-130 cm, severe and progressive kyphoscoliosis, arthritic changes with joint dislocations (elbows, wrists, knees), rhizomelic limbs, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normal intelligence, and ventricular septal defect and deafness in isolated cases.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2065919805 |
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| English | Spondyloepiphyseal dysplasia, Omani type |
Spondyloepiphyseal dysplasia, Omani type is a form of spondyloepiphyseal dysplasia (SED) characterised by short stature with final height of 110-130 cm, severe and progressive kyphoscoliosis, arthritic changes with joint dislocations (elbows, wrists, knees), rhizomelic limbs, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normal intelligence, and ventricular septal defect and deafness in isolated cases. |
