Joubert syndrome in a neonate: case report with literature review.

Haifa A Bin Dahman; Abdul-Hakeem M Bin Mubaireek; Zain H Alhaddad

2024, Vol: 24, Issue: 1

24 / 1Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Required files to be uploaded

Title page

« Previous Article

Sudan J Paed. 2016; 16(1): 53-7

Joubert syndrome in a neonate: case report with literature review.

Haifa A Bin Dahman, Abdul-Hakeem M Bin Mubaireek, Zain H Alhaddad.

Abstract
Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newborn with mild hypotonia, abnormal pattern of respiration, abnormal eye movements and molar tooth sign on brain CT scan. Joubert syndrome is an uncommon inherited condition and delayed diagnosis is usually related to its variable, non-specific presentation. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counseling and proper rehabilitation.

Key words: Hyperpnoea; Joubert syndrome; Molar tooth sign; Neonate; Oculomotor apraxia; Yemen

	ARTICLE TOOLS
	Abstract
	PDF Fulltext
	How to cite this article
	Citation Tools
	Related Records
	Articles by Haifa A Bin Dahman Articles by Abdul-Hakeem M Bin Mubaireek Articles by Zain H Alhaddad
	on Google
	on Google Scholar

How to Cite this Article

Pubmed Style

Dahman HAB, Mubaireek AMB, Alhaddad ZH. Joubert syndrome in a neonate: case report with literature review.. Sudan J Paed. 2016; 16(1): 53-7.

Web Style

Dahman HAB, Mubaireek AMB, Alhaddad ZH. Joubert syndrome in a neonate: case report with literature review.. https://sudanjp.com//?mno=280633 [Access: June 21, 2024].

AMA (American Medical Association) Style

Dahman HAB, Mubaireek AMB, Alhaddad ZH. Joubert syndrome in a neonate: case report with literature review.. Sudan J Paed. 2016; 16(1): 53-7.

Vancouver/ICMJE Style

Dahman HAB, Mubaireek AMB, Alhaddad ZH. Joubert syndrome in a neonate: case report with literature review.. Sudan J Paed. (2016), [cited June 21, 2024]; 16(1): 53-7.

Harvard Style

Dahman, H. A. B., Mubaireek, . A. M. B. & Alhaddad, . Z. H. (2016) Joubert syndrome in a neonate: case report with literature review.. Sudan J Paed, 16 (1), 53-7.

Turabian Style

Dahman, Haifa A Bin, Abdul-Hakeem M Bin Mubaireek, and Zain H Alhaddad. 2016. Joubert syndrome in a neonate: case report with literature review.. Sudanese Journal of Paediatrics, 16 (1), 53-7.

Chicago Style

Dahman, Haifa A Bin, Abdul-Hakeem M Bin Mubaireek, and Zain H Alhaddad. "Joubert syndrome in a neonate: case report with literature review.." Sudanese Journal of Paediatrics 16 (2016), 53-7.

MLA (The Modern Language Association) Style

Dahman, Haifa A Bin, Abdul-Hakeem M Bin Mubaireek, and Zain H Alhaddad. "Joubert syndrome in a neonate: case report with literature review.." Sudanese Journal of Paediatrics 16.1 (2016), 53-7. Print.

APA (American Psychological Association) Style

Dahman, H. A. B., Mubaireek, . A. M. B. & Alhaddad, . Z. H. (2016) Joubert syndrome in a neonate: case report with literature review.. Sudanese Journal of Paediatrics, 16 (1), 53-7.

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]

About Sudanese Journal of Paediatrics

Sudanese Journal of Paediatrics is available free online at https://sudanjp.com/. Archives can also be found at https://sudanjp.org/. There ... Read more.

For best results, please use Internet Explorer or Google Chrome.

Contact Information

Editor in Chief: Professor Mohamed Osman Swar, Department of Paediatrics and Child Health, Ahfad University for Women, Omdurman, Sudan.

E-mail: moswar2019@outlook.com

Sudan Association of Paediatricians, Building No.71, Block No.65, Arkaweet, Khartoum, Sudan.

https://sudanap.org/

Journal Email: editor.sudanjp@gmail.com

Technical Support:

anastasiia.pavlenco@sofiafields.com

https://sofiafields.com/

Hosting Providor:

contact@discoverpublish.com

https://discoverpublish.com/

POLICIES & JOURNAL LINKS

About Sudanese Journal of Paediatrics

Contact Information

How to cite this article