Spondyloepiphyseal dysplasia, Byers type (Q88347): Difference between revisions
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Displasia espondiloepifisária, tipo Byers, é um tipo de displasia espondiloepifisária descrita em vários membros de uma única família e caracterizada por baixa estatura de tronco curto, distrofia corneana pontilhada e desorganização das fibrilas de colágeno dérmico no exame de microscopia eletrônica de transmissão. Desde o relato original desta família na década de 1970, nenhum novo caso foi relatado. | |||
| description / en | description / en | ||
Spondyloepiphyseal dysplasia, Byers type is a type of spondyloepiphyseal dysplasia described in several members of a single family and characterised by short-trunked short stature, punctate corneal dystrophy and disorganisation of dermal collagen fibrils on transmission electron microscopy examination. Since the original report of this family in the 1970s, no new cases have been reported. | |||
Revision as of 14:32, 15 August 2026
Spondyloepiphyseal dysplasia, Byers type is a type of spondyloepiphyseal dysplasia described in several members of a single family and characterised by short-trunked short stature, punctate corneal dystrophy and disorganisation of dermal collagen fibrils on transmission electron microscopy examination. Since the original report of this family in the 1970s, no new cases have been reported.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1922586680 |
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| English | Spondyloepiphyseal dysplasia, Byers type |
Spondyloepiphyseal dysplasia, Byers type is a type of spondyloepiphyseal dysplasia described in several members of a single family and characterised by short-trunked short stature, punctate corneal dystrophy and disorganisation of dermal collagen fibrils on transmission electron microscopy examination. Since the original report of this family in the 1970s, no new cases have been reported. |
