ArticleWorld journal of clinical cases2021
Geleophysic dysplasia caused by a mutation in
Article in World journal of clinical cases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia.Frontiers in pediatrics · 2025Article
- Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation inFrontiers in pediatrics · 2024Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGeleophysic dysplasia (GD) presents the characterized clinical manifestations of acromelic dysplasia, including extremely short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness and others. It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities, progressive hepatomegaly and tracheal stenosis. CASE SUMMARY: We report on a Chinese 9-year-old girl with GD with the c.5243G>T (p.C1748F) mutation in
conclusionGD is a rare genetic condition that can cause life-threatening cardiovascular and respiratory problems. This study also found that the identified genotype of GD could be related to different clinical phenotypes.
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