Article: Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.
World journal of clinical cases
2023 Volume 11, Issue 9, Page(s) 2036–2042
Abstract: Background: Acromicric dysplasia (AD) is a rare skeletal dysplasia. Its incidence is < 1/1000000, and only approximately 60 cases are reported worldwide. It is a disease characterized by severe short stature, short hands and feet, facial abnormalities, ... ...
Abstract | Background: Acromicric dysplasia (AD) is a rare skeletal dysplasia. Its incidence is < 1/1000000, and only approximately 60 cases are reported worldwide. It is a disease characterized by severe short stature, short hands and feet, facial abnormalities, normal intelligence, and bone abnormalities. Unlike other skeletal dysplasia, AD has a mild clinical phenotype, mainly characterized by short stature. Extensive endocrine examination has not revealed a potential cause. The clinical effect of growth hormone therapy is still uncertain. Case summary: We report a clinical phenotype of AD associated with mutations in the fibrillin 1 ( Conclusion: FBN1 |
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Language | English |
Publishing date | 2023-03-14 |
Publishing country | United States |
Document type | Case Reports |
ISSN | 2307-8960 |
ISSN | 2307-8960 |
DOI | 10.12998/wjcc.v11.i9.2036 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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