When the heart and hands tell a story: an intriguing case of Holt–Oram syndrome

Holt-Oram syndrome is a rare genetic disorder which should be suspected in the presence of any upper limb anomaly associated with cardiac malformation and confirmed by genetic study. A family investigation is necessary after diagnosis, because of autosomal dominant inheritance.

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Publication Details

Journal
The Egyptian Heart Journal
Published
2024-09-02
DOI
https://doi.org/10.1186/s43044-024-00549-4
Citations
1
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
0.23
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article

When the heart and hands tell a story: an intriguing case of Holt–Oram syndrome

A. Drighil, Ilyas Atlas, Soukaina Zagdan, Mohamed Megzari et al.
1 citations
The Egyptian Heart Journal
Congenital heart defects research
0.23
article

When the heart and hands tell a story: an intriguing case of Holt–Oram syndrome

A. Drighil, Ilyas Atlas, Soukaina Zagdan, Mohamed Megzari, S. Arous
article en
1 citations

Abstract

Holt-Oram syndrome is a rare genetic disorder which should be suspected in the presence of any upper limb anomaly associated with cardiac malformation and confirmed by genetic study. A family investigation is necessary after diagnosis, because of autosomal dominant inheritance.

The Egyptian Heart JournalVol. 76(1)
Centre Hospitalier Universitaire Ibn Rochd (MA)
Good health and well-being
Openalex Percentile: Top 43%
Congenital heart defects research
0.23
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