E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report 


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

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


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.

Key words: Case report, LAMA1 gene, arthrogryposis, cerebellum


 
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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: March 14, 2024]. 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 March 14, 2024]; 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





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