E-ISSN 1858-8360 | ISSN 0256-4408
 

Case Report 


Coexistence of genetic conditions: Exploring a possible relationship

Bothainah Yousef Alaqeel , Amir Babakir, Fuad Al Mutairi, Mohammed Al Dubayee.

Abstract
We report on a young boy who has congenital adrenal hyperplasia (CAH) and a suspected Van Maldergem syndrome (VMLDS), another genetic condition that our patient showed its classic phenotype and was supported by a genetic test that showed a novel likely pathogenic variant in a previously described gene of the syndrome. Pediatricians do encounter the challenge of coexisting genetic conditions albeit infrequently, and advanced genetic analysis, example whole exome sequencing (WES), increasingly report variants of unknown significance with a variable degree of potential pathogenicity. The treating physician needs to follow a systematic approach and entertain a thorough literature search and brainstorming in order to identify any possible relationship between coexisting genetic conditions. The first step should be confirming the existence of the two conditions. However, when family segregation is unable to confidently make a sensible conclusion, a clinician should proceed to advanced functional studies to unveil any hidden relationship between coexisting and clinically likely related genetic conditions.

Key words: Congenital adrenal hyperplasia; Hippo pathway; Van Maldergem syndrome.


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Bothainah Yousef Alaqeel
Articles by Amir Babakir
Articles by Fuad Al Mutairi
Articles by Mohammed Al Dubayee
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

BYA, AB, FAM, Dubayee MA, . Coexistence of genetic conditions: Exploring a possible relationship. Sudan J Paed. 2019; 19(1): 60-66. doi:10.24911/SJP.106-1554459680


Web Style

BYA, AB, FAM, Dubayee MA, . Coexistence of genetic conditions: Exploring a possible relationship. https://sudanjp.com//?mno=41860 [Access: February 06, 2024]. doi:10.24911/SJP.106-1554459680


AMA (American Medical Association) Style

BYA, AB, FAM, Dubayee MA, . Coexistence of genetic conditions: Exploring a possible relationship. Sudan J Paed. 2019; 19(1): 60-66. doi:10.24911/SJP.106-1554459680



Vancouver/ICMJE Style

BYA, AB, FAM, Dubayee MA, . Coexistence of genetic conditions: Exploring a possible relationship. Sudan J Paed. (2019), [cited February 06, 2024]; 19(1): 60-66. doi:10.24911/SJP.106-1554459680



Harvard Style

, B. Y. A. ., , A. B., , F. A. M., Dubayee, M. A. & (2019) Coexistence of genetic conditions: Exploring a possible relationship. Sudan J Paed, 19 (1), 60-66. doi:10.24911/SJP.106-1554459680



Turabian Style

, Bothainah Yousef Alaqeel , Amir Babakir, Fuad Al Mutairi, Mohammed Al Dubayee, and . 2019. Coexistence of genetic conditions: Exploring a possible relationship. Sudanese Journal of Paediatrics, 19 (1), 60-66. doi:10.24911/SJP.106-1554459680



Chicago Style

, Bothainah Yousef Alaqeel , Amir Babakir, Fuad Al Mutairi, Mohammed Al Dubayee, and . "Coexistence of genetic conditions: Exploring a possible relationship." Sudanese Journal of Paediatrics 19 (2019), 60-66. doi:10.24911/SJP.106-1554459680



MLA (The Modern Language Association) Style

, Bothainah Yousef Alaqeel , Amir Babakir, Fuad Al Mutairi, Mohammed Al Dubayee, and . "Coexistence of genetic conditions: Exploring a possible relationship." Sudanese Journal of Paediatrics 19.1 (2019), 60-66. Print. doi:10.24911/SJP.106-1554459680



APA (American Psychological Association) Style

, B. Y. A. ., , A. B., , F. A. M., Dubayee, M. A. & (2019) Coexistence of genetic conditions: Exploring a possible relationship. Sudanese Journal of Paediatrics, 19 (1), 60-66. doi:10.24911/SJP.106-1554459680





Most Viewed Articles
Most Accessed Articles

  • Rheumatic heart disease in North Darfur: an alarmingly high burden and control initiative
    Nagwa Salih, Ishag Eisa, Daresalam Ishag, Intisar Ibrahim, Sulafa Ali
    Sudan J Paed. 2018; 18(1): 24-27
    » Abstract » doi: 10.24911/SJP.2018.1.4

  • Feeding growth restricted premature neonates: a challenging perspective
    Siba Prosad Paul, Emily Natasha Kirkham, Katherine Amy Hawton, Paul Anthony Mannix
    Sudan J Paed. 2018; 18(2): 5-14
    » Abstract » doi: 10.24911/SJP.106-1519511375

  • Congenital brain malformations in Sudanese children: an outpatient-based study
    Inaam Noureldyme Mohammed, Soad Abdalaziz Suliman, Maha A Elseed, Ahlam Abdalrhman Hamed, Mohamed Osman Babiker, Shaimaa Osman Taha
    Sudan J Paed. 2018; 18(1): 48-56
    » Abstract » doi: 10.24911/SJP.2018.1.7

  • Evaluation of Science. [eng]
    Adnan Mahmmood Usmani; Sultan Ayoub Meo
    Sudan J Paed. 2011; 11(1): 6-7
    » Abstract

  • Medical education and services in an extreme environment
    Mustafa Abdalla M. Salih, Mohammed Osman Swar
    Sudan J Paed. 2018; 18(1): 2-5
    » Abstract » doi: 10.24911/SJP.2018.1.1

  • Most Downloaded
    Top Downloaded Articles

  • The role of micronutrients in thyroid dysfunction
    Amir Babiker, Afnan Alawi, Mohsen Al Atawi, Ibrahim Al Alwan
    Sudan J Paed. 2020; 20(1): 13-19
    » Abstract » doi: 10.24911/SJP.106-1587138942

  • Why mothers are not exclusively breast feeding their babies till 6 months of age? Knowledge and practices data from two large cities of the Kingdom of Saudi Arabia
    Hafsa Raheel, Shabana Tharkar
    Sudan J Paed. 2018; 18(1): 28-38
    » Abstract » doi: 10.24911/SJP.2018.1.5

  • Relactation in lactation failure and low milk supply
    Anita Mehta, Arvind Kumar Rathi, Komal Prasad Kushwaha, Abhishek Singh
    Sudan J Paed. 2018; 18(1): 39-47
    » Abstract » doi: 10.24911/SJP.2018.1.6

  • Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review
    Majid Alfadhel, Amir Babiker
    Sudan J Paed. 2018; 18(1): 10-23
    » Abstract » doi: 10.24911/SJP.2018.1.3

  • Neonatal polycythaemia
    Bashir Abdrhman Bashir, Suhair Abdrahim Othman
    Sudan J Paed. 2019; 19(2): 81-83
    » Abstract » doi: 10.24911/SJP.106-1566075225

  • Most Cited Articles
    Most Cited Articles

  • Anti-diabetic medications: How to make a choice?
    Amir Babiker, Mohammed Al Dubayee
    Sudan J Paed. 2017; 17(2): 11-20
    » Abstract » doi: 10.24911/SJP.2017.2.12
    Cited : 8 times [Click to see citing articles]

  • Commitment to the wellbeing of children worldwide. [eng]
    Mustafa Abdalla M Salih; Satti Abdelrahim Satti
    Sudan J Paed. 2011; 11(2): 4-5
    » Abstract
    Cited : 4 times [Click to see citing articles]

  • Pattern of malaria in hospitalized children in Khartoum state
    Hasan Awadalla Hashim, Eltigani Mohamed Ahmed Ali
    Sudan J Paed. 2017; 17(2): 35-41
    » Abstract » doi: 10.24911/SJP.2017.2.4
    Cited : 4 times [Click to see citing articles]

  • The role of micronutrients in thyroid dysfunction
    Amir Babiker, Afnan Alawi, Mohsen Al Atawi, Ibrahim Al Alwan
    Sudan J Paed. 2020; 20(1): 13-19
    » Abstract » doi: 10.24911/SJP.106-1587138942
    Cited : 4 times [Click to see citing articles]

  • Broad beans ( Vicia faba ) and the potential to protect from COVID-19 coronavirus infection
    Mutasim I. Khalil, Mustafa A. Salih, Ali A. Mustafa
    Sudan J Paed. 2020; 20(1): 10-12
    » Abstract » doi: 10.24911/SJP.1061585398078
    Cited : 4 times [Click to see citing articles]