Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form
| العنوان: | Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form |
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| المؤلفون: | Gianfranco Sebastio, G. Andria, V. Farina, Giancarlo Parenti, M. Lecora, R. Della Casa, Luigi Titomanlio |
| المصدر: | American Journal of Medical Genetics. 86:82-85 |
| بيانات النشر: | Wiley, 1999. |
| سنة النشر: | 1999 |
| مصطلحات موضوعية: | medicine.medical_specialty, Pathology, business.industry, Brachydactyly, Dwarfism, Consanguinity, medicine.disease, Osteochondrodysplasia, Short stature, Endocrinology, Dysplasia, Internal medicine, medicine, Lysosomal storage disease, Joint Contracture, medicine.symptom, business, Genetics (clinical) |
| الوصف: | Geleophysic dysplasia (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, joint contractures, and a good-natured facial appearance. Infiltration of liver and cardiac leaflets has been reported in some patients. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, tracheal mucosa, chondrocytes, and skin fibroblasts, the underlying cause of the conditions is considered to be a generalized lysosomal storage defect. We report on a new case born to consanguineous parents, first observed at age 8 months, and for whom a 7-year follow-up is available. |
| تدمد: | 1096-8628 0148-7299 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::69eb583b78a48ea8c3f2c54018c8a0e4Test https://doi.org/10.1002Test/(sici)1096-8628(19990903)86:1<82::aid-ajmg16>3.0.co;2-o |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........69eb583b78a48ea8c3f2c54018c8a0e4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10968628 01487299 |
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