Geleophysic dysplasia caused by a mutation in FBN1: A case report
Ying Tao1, Qing Wei1, Xun Chen1
1Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China.
World Journal of Clinical Cases
|September 20, 2021
Summary
Geleophysic dysplasia (GD) is a rare genetic disorder. This case highlights a novel FBN1 mutation linked to severe respiratory and cardiac issues in a Chinese child, emphasizing genotype-phenotype correlations.
Area of Science:
- Genetics
- Rare diseases
- Skeletal dysplasias
Background:
- Geleophysic dysplasia (GD) is a rare acromelic dysplasia characterized by short stature and distinct symptoms like cardiac and tracheal abnormalities.
- GD is clinically differentiated from other acromelic dysplasias by specific features including cardiac valvular issues, progressive hepatomegaly, and tracheal stenosis.
Observation:
- A 9-year-old Chinese girl with typical GD features presented with recurrent respiratory infections.
- She had bronchopneumonia, mild mitral valve thickening with regurgitation, and severe glottic stenosis.
- Ophthalmic examination showed no myopia or lens dislocation.
Findings:
- The patient carried a c.5243G>T (p.C1748F) mutation in the FBN1 gene.
- The identified genotype correlated with severe clinical phenotypes, including significant respiratory and cardiovascular complications.
- Treatment with antibiotics and steroids led to symptom improvement.
Implications:
- This case underscores the potential for life-threatening cardiovascular and respiratory complications in GD.
- The study suggests a link between specific GD genotypes and varied clinical presentations.
- Understanding genotype-phenotype correlations is crucial for managing GD patients effectively.
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