Proceedings: Joint involvement in spondylo-epiphyseal dysplasias.

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6.4 Spondylo-epiphyseal dysplasia – a physiotherapy approach

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Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and generalized delayed endochondral ossification. ...

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A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

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ژورنال

عنوان ژورنال: Annals of the Rheumatic Diseases

سال: 1974

ISSN: 0003-4967

DOI: 10.1136/ard.33.4.411