Case Report
JBCGenetics. 2018; 1(1): 43-46

An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation

Authors: Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1531458597

Abstract

Background: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts. Case Presentation: We present a novel homozygous LAMA1 variant that is predicted to cause atypical phenotype of severe arthrogryposis, feeding difficulties, developmental delay, retinopathy, and no cerebellar involvement. Conclusion: Our findings are suggestive of absence of cerebellar involvement in LAMA1 mutations in some cases and phenotype may include severe arthrogryposis.

Keywords:   Case report, LAMA1 gene, arthrogryposis, cerebellum


Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@jbcgenetics.com.

Copyright ©2018. All Rights Reserved.

An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation


Authors
Ameur Ammari
Division of Neonatology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia
PubMed articlesGoogle scholar articles

Amal Alhashem
Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia
PubMed articlesGoogle scholar articles

Hanen Abdelraouf
Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia
PubMed articlesGoogle scholar articles

Fatma Alzahrani
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Fowzan Sami Alkuraya
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Brahim Tabarki
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia
PubMed articlesGoogle scholar articles


Correspondence to:
. Brahim Tabarki, Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; btabarki@hotmail.com

Publication history
Received 06 Nov 2017
Revised 16 Dec 2017
Accepted 24 Dec 2017
Published in print 01 Jan 2018

How to cite this article

Pubmed Style

Ammari A, Alhashem A, Abdelraouf H, Alzahrani F, Alkuraya FS, Tabarki B. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation. JBCGenetics. 2018; 1(1): 43-46. doi:10.24911/JBCGenetics/183-1531458597


Web Style

Ammari A, Alhashem A, Abdelraouf H, Alzahrani F, Alkuraya FS, Tabarki B. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation. https://www.jbcgenetics.com//?mno=500 [Access: December 13, 2018]. doi:10.24911/JBCGenetics/183-1531458597


AMA (American Medical Association) Style

Ammari A, Alhashem A, Abdelraouf H, Alzahrani F, Alkuraya FS, Tabarki B. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation. JBCGenetics. 2018; 1(1): 43-46. doi:10.24911/JBCGenetics/183-1531458597


Vancouver/ICMJE Style

Ammari A, Alhashem A, Abdelraouf H, Alzahrani F, Alkuraya FS, Tabarki B. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation. JBCGenetics. (2018), [cited December 13, 2018]; 1(1): 43-46. doi:10.24911/JBCGenetics/183-1531458597


Harvard Style

Ammari, A., Alhashem, . A., Abdelraouf, . H., Alzahrani, . F., Alkuraya, . F. S. & Tabarki, . B. (2018) An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation. JBCGenetics, 1 (1), 43-46. doi:10.24911/JBCGenetics/183-1531458597


Turabian Style

Ammari, Ameur, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, and Brahim Tabarki. 2018. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation. Journal of Biochemical and Clinical Genetics, 1 (1), 43-46. doi:10.24911/JBCGenetics/183-1531458597


Chicago Style

Ammari, Ameur, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, and Brahim Tabarki. "An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation." Journal of Biochemical and Clinical Genetics 1 (2018), 43-46. doi:10.24911/JBCGenetics/183-1531458597


MLA (The Modern Language Association) Style

Ammari, Ameur, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, and Brahim Tabarki. "An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation." Journal of Biochemical and Clinical Genetics 1.1 (2018), 43-46. Print. doi:10.24911/JBCGenetics/183-1531458597


APA (American Psychological Association) Style

Ammari, A., Alhashem, . A., Abdelraouf, . H., Alzahrani, . F., Alkuraya, . F. S. & Tabarki, . B. (2018) An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation. Journal of Biochemical and Clinical Genetics, 1 (1), 43-46. doi:10.24911/JBCGenetics/183-1531458597


Click the icon of the social media platform on which you would like to share this article.

Viewed: 194
Downloaded:
Cited: 0