Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child
This case report presents the diagnosis and management of Ellis-van Creveld syndrome (EVC) in a 20-year-old Saudi boy, highlighting the condition’s genetic basis and prevalence in consanguineous communities. The patient exhibited characteristic clinical and radiological features, including below-ave...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Saudi Journal for Health Sciences |
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| Online Access: | https://journals.lww.com/10.4103/sjhs.sjhs_103_24 |
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| author | Essam Al Ageeli |
| author_facet | Essam Al Ageeli |
| author_sort | Essam Al Ageeli |
| collection | DOAJ |
| description | This case report presents the diagnosis and management of Ellis-van Creveld syndrome (EVC) in a 20-year-old Saudi boy, highlighting the condition’s genetic basis and prevalence in consanguineous communities. The patient exhibited characteristic clinical and radiological features, including below-average height, bilateral postaxial polydactyly, and hypoplastic nails. Diagnosis was confirmed through genetic testing, revealing a nonsense homozygous mutation in the EVC2 gene. Remarkably, the absence of cardiac abnormalities allowed for the successful administration of growth hormone (GH) therapy, which led to a notable increase in height over 2 years, from 108 cm at age 12 to 122 cm at age 14. This case underscores the importance of comprehensive assessment and the potential benefits of GH therapy in EVC patients, particularly those without cardiac defects. |
| format | Article |
| id | doaj-art-98dde510081f44d5824dcd0e2f6c9ec4 |
| institution | Kabale University |
| issn | 2278-1900 2278-0521 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Saudi Journal for Health Sciences |
| spelling | doaj-art-98dde510081f44d5824dcd0e2f6c9ec42025-02-06T07:26:06ZengWolters Kluwer Medknow PublicationsSaudi Journal for Health Sciences2278-19002278-05212024-12-0113326126310.4103/sjhs.sjhs_103_24Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi childEssam Al AgeeliThis case report presents the diagnosis and management of Ellis-van Creveld syndrome (EVC) in a 20-year-old Saudi boy, highlighting the condition’s genetic basis and prevalence in consanguineous communities. The patient exhibited characteristic clinical and radiological features, including below-average height, bilateral postaxial polydactyly, and hypoplastic nails. Diagnosis was confirmed through genetic testing, revealing a nonsense homozygous mutation in the EVC2 gene. Remarkably, the absence of cardiac abnormalities allowed for the successful administration of growth hormone (GH) therapy, which led to a notable increase in height over 2 years, from 108 cm at age 12 to 122 cm at age 14. This case underscores the importance of comprehensive assessment and the potential benefits of GH therapy in EVC patients, particularly those without cardiac defects.https://journals.lww.com/10.4103/sjhs.sjhs_103_24consanguinityellis-van creveld syndromeellis-van creveld ciliary complex subunit 2 genegrowth hormone therapyshort stature |
| spellingShingle | Essam Al Ageeli Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child Saudi Journal for Health Sciences consanguinity ellis-van creveld syndrome ellis-van creveld ciliary complex subunit 2 gene growth hormone therapy short stature |
| title | Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child |
| title_full | Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child |
| title_fullStr | Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child |
| title_full_unstemmed | Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child |
| title_short | Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child |
| title_sort | enhanced growth of short stature in ellis van creveld syndrome a case report of a saudi child |
| topic | consanguinity ellis-van creveld syndrome ellis-van creveld ciliary complex subunit 2 gene growth hormone therapy short stature |
| url | https://journals.lww.com/10.4103/sjhs.sjhs_103_24 |
| work_keys_str_mv | AT essamalageeli enhancedgrowthofshortstatureinellisvancreveldsyndromeacasereportofasaudichild |