CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus
| Autor: | Julie Hoover-Fong, Maria Elena Serna, Mary Ellen Little, Chengxin Liu, Janet M. Legare, Cory J. Smid, Jacqueline T. Hecht, Adekemi Yewande Alade, Michael B. Bober, Richard M. Pauli, David Rodriguez-Buritica, S. Shahrukh Hashmi, Peggy Modaff |
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| Rok vydání: | 2020 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine Adult Male congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Population 030105 genetics & heredity Osteochondrodysplasias Craniosynostosis Achondroplasia 03 medical and health sciences Craniosynostoses Young Adult Seizures Diabetes mellitus Genetics Diabetes Mellitus Medicine Humans education Genetics (clinical) education.field_of_study business.industry medicine.disease 030104 developmental biology Phenotype Dysplasia Cohort Mutation Female business Natural history study Historical Cohort |
| Zdroj: | American journal of medical genetics. Part AREFERENCES. 185(4) |
| ISSN: | 1552-4833 |
| Popis: | Achondroplasia is the most common disproportionate short statured skeletal dysplasia with a prevalence of approximately 1:20,000-30,000. We created the largest database to date of a historical cohort of 1374 patients with achondroplasia (CLARITY-aChondropLasia nAtuRal hIsTory studY). This cohort was queried for the presence of unrecognized or under-recognized features associated with achondroplasia. Craniosynostosis was found to co-occur with achondroplasia in 9 (0.65%) patients in this cohort, which is much higher than the general population prevalence of 3.1-7.2 per 10,000. In addition, 27 patients had seizures (2.0%), an apparent excess as compared to the general population. Only two people had diabetes despite a high rate of adult obesity. This report documents for the first time an increased prevalence of craniosynostosis in persons with achondroplasia, and adds support to previous observations of an apparently higher than expected prevalence of seizures and lower prevalence of diabetes mellitus. |
| Databáze: | OpenAIRE |
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