DiGeorge syndrome presenting with marfanoid habitus

An adolescent man presented to the emergency department with sudden-onset spasms in his hands and feet. He was born to non-consanguineous parents following a full-term, uncomplicated delivery. His parents reported developmental and speech delays, learning difficulties and poor academic performance.

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Publication Details

Journal
BMJ Case Reports
Published
2025-02-01
DOI
https://doi.org/10.1136/bcr-2024-264196
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
0.00
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article

DiGeorge syndrome presenting with marfanoid habitus

Ahmad Alam, Rezwana Naher Begam, Akash Priyadarshi, Shekh Ashraf
BMJ Case Reports
Congenital heart defects research
article

DiGeorge syndrome presenting with marfanoid habitus

Ahmad Alam, Rezwana Naher Begam, Akash Priyadarshi, Shekh Ashraf
article en

Abstract

An adolescent man presented to the emergency department with sudden-onset spasms in his hands and feet. He was born to non-consanguineous parents following a full-term, uncomplicated delivery. His parents reported developmental and speech delays, learning difficulties and poor academic performance.

BMJ Case ReportsVol. 18(2)
Jawaharlal Nehru Medical College Hospital (IN), Jawaharlal Nehru Medical College (IN)
Openalex Percentile: Top 98%
Congenital heart defects research
DOISourceOpenAlex
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