RESUMO
We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.
RESUMO
Immunosuppressive therapy (IST), consisting of anti thymocyte globulin and cyclosporine, is the standard of care for elderly patients and in younger patients without matched donor for stem cell transplant. In this retrospective study of 60 patients, most had non severe AA (51.6%) followed by very severe AA (26.7%) and severe AA (21.7%). The response rate at 6 months was 68.3% (complete response-3.3% and partial response-65%). Of the 45 who completed 12 months follow up, RR was 54.7% (CR-7.5%, PR-47.2 %). Eight patients died during the study period. Also, Indian data on IST is briefly reviewed.
RESUMO
There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder.