Spondyloepiphyseal dysplasia, Byers type (Q88347): Difference between revisions

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Latest 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
default for all languages	ID_1922586680
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.