Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports
| Autor: | Zhengmao Hu, Hao Peng, Zhimin Xiong, Wei Li, Sanchuan Luo, Jinjie Xue, Lusi Zhang, Xiaojuan Xu, Kun Xia, Yanmei Lu, Dengming Chen |
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| Rok vydání: | 2013 |
| Předmět: |
Medicine(all)
Premature aging congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Progeria integumentary system business.industry Incidence (epidemiology) Genetic counseling nutritional and metabolic diseases Case Report General Medicine medicine.disease LMNA Mandibuloacral dysplasia medicine Sibling business Stroke |
| Zdroj: | Journal of Medical Case Reports |
| ISSN: | 1752-1947 |
| DOI: | 10.1186/1752-1947-7-63 |
| Popis: | Introduction Hutchinson-Gilford progeria syndrome is a rare pediatric genetic syndrome with an incidence of one per eight million live births. The disorder is characterized by premature aging, generally leading to death due to myocardial infarction or stroke at approximately 13.4 years of age. The genetic diagnosis and special clinical manifestation in two Han Chinese siblings observed at our clinic for genetic counseling are described in this report. We screened the LMNA gene in these two siblings as well as in their unaffected parents. A homozygous mutation R527C was identified in the affected siblings, and both parents were heterozygous for this variant. Case presentation In case 1, the elder 10-year-old female sibling showed the classic physical and radiological changes of Hutchinson-Gilford progeria syndrome in addition to a considerable overlap with the phenotype of mandibuloacral dysplasia. In case 2, the younger male sibling had begun to show some early physical changes at age six months. Conclusion The phenotypic findings in the patients we describe here widen the clinical spectrum of Hutchinson-Gilford progeria syndrome symptoms, providing further recognition of the phenotypic range of LMNA-associated diseases. |
| Databáze: | OpenAIRE |
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