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Abstract
Alazami Syndrome is a rare autosomal recessive genetic disorder caused by biallelic pathogenic mutations in the LARP7 gene, initially identified in a Saudi consanguineous family in 2012. This syndrome presents diverse clinical features, including significant growth restriction, intellectual disability, and distinctive facial characteristics, which contribute to its diagnostic profile. Patients with Alazami Syndrome commonly display severe intellectual disability, growth retardation manifesting as primordial dwarfism, and characteristic facial traits such as a triangular-shaped face, prominent forehead, and dental malocclusion. Additional clinical findings may include microcephaly, skeletal anomalies, thickened skin, and neurobehavioral abnormalities, including hypersensitivity to sensory stimuli and autistic-like behaviors. This case report aims to detail the oral clinical features and specific dental management approaches for a patient with Alazami Syndrome, highlighting the challenges and considerations in providing comprehensive care. The findings provide insights into the dental care needs of patients with Alazami Syndrome and underscore the importance of a multidisciplinary approach for optimal patient outcomes.
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Copyright (c) 2025 Journal of Contemporary Dental Sciences
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References
- Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat. 2012;33(10):1429-34.
- Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, et al. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. Eur J Med Genet. 2019;62(3):161-6.
- Holohan B, Kim W, Lai TP, Hoshiyama H, Zhang N, Alazami AM, et al. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. BMC Genomics. 2016;17(Suppl 9):749.
- Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura KI, Moriuchi H. Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. Hum Genome Var. 2018;5:18014.
- Alzahrani MS, Bird LM. Alazami syndrome in an Afghani girl: a case report and review of literature. Global Journal of Rare Diseases. 2019;4(1):003-6.
- Wojcik MH, Linnea K, Stoler JM, Rappaport L. Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. Am J Med Genet A. 2019;179(8):1565-9.
- Hasler D, Meduri R, Bąk M, Lehmann G, Heizinger L, Wang X, et al. The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness. Mol Cell. 2020;77(5):1014-31.e13.
- Fauntleroy-Love KD, Wilson TE, Padem N, Golomb MR. A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami. Child Neurol Open. 2023;10:2329048x231190784.
- Ling TT, Sorrentino S. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. Am J Med Genet A. 2016;170a(1):217-9.
- Bajafar A, Rifai F, Al-Said Y, Cupler E. Alazami syndrome due to LARP7 gene mutation: Expanding the phenotype. Journal of the Neurological Sciences. 2019;405:272-3.
- Irshaid F, Alawneh S, Al Souhail Q, Alshdefat A, Irshaid B, Irshaid A. A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches-A Case Report. 2024.
- Al-Hinai A, Al-Hashmi S, Ganesh A, Al-Hashmi N, Al-Saegh A, Al-Mamari W, et al. Further phenotypic delineation of Alazami syndrome. American Journal of Medical Genetics Part A. 2022;188(8):2485-90.
- Gagnier JJ, Kienle G, Altman DG, Moher D, Sox H, Riley D. The CARE guidelines: consensus-based clinical case reporting guideline development. BMJ Case Rep. 2013;2013.
- AAPD. Periodicity of Examination, Preventive Dental Services, Anticipatory Guidance/Counseling, and Oral Treatment for Infants, Children, and Adolescents. Pediatr Dent. 2017;39(6):239-305.
- Khan AJ, Md Sabri BA, Ahmad MS. Factors affecting provision of oral health care for people with special health care needs: A systematic review. The Saudi Dental Journal. 2022;34(7):527-37.
References
Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat. 2012;33(10):1429-34.
Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, et al. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. Eur J Med Genet. 2019;62(3):161-6.
Holohan B, Kim W, Lai TP, Hoshiyama H, Zhang N, Alazami AM, et al. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. BMC Genomics. 2016;17(Suppl 9):749.
Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura KI, Moriuchi H. Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. Hum Genome Var. 2018;5:18014.
Alzahrani MS, Bird LM. Alazami syndrome in an Afghani girl: a case report and review of literature. Global Journal of Rare Diseases. 2019;4(1):003-6.
Wojcik MH, Linnea K, Stoler JM, Rappaport L. Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. Am J Med Genet A. 2019;179(8):1565-9.
Hasler D, Meduri R, Bąk M, Lehmann G, Heizinger L, Wang X, et al. The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness. Mol Cell. 2020;77(5):1014-31.e13.
Fauntleroy-Love KD, Wilson TE, Padem N, Golomb MR. A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami. Child Neurol Open. 2023;10:2329048x231190784.
Ling TT, Sorrentino S. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. Am J Med Genet A. 2016;170a(1):217-9.
Bajafar A, Rifai F, Al-Said Y, Cupler E. Alazami syndrome due to LARP7 gene mutation: Expanding the phenotype. Journal of the Neurological Sciences. 2019;405:272-3.
Irshaid F, Alawneh S, Al Souhail Q, Alshdefat A, Irshaid B, Irshaid A. A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches-A Case Report. 2024.
Al-Hinai A, Al-Hashmi S, Ganesh A, Al-Hashmi N, Al-Saegh A, Al-Mamari W, et al. Further phenotypic delineation of Alazami syndrome. American Journal of Medical Genetics Part A. 2022;188(8):2485-90.
Gagnier JJ, Kienle G, Altman DG, Moher D, Sox H, Riley D. The CARE guidelines: consensus-based clinical case reporting guideline development. BMJ Case Rep. 2013;2013.
AAPD. Periodicity of Examination, Preventive Dental Services, Anticipatory Guidance/Counseling, and Oral Treatment for Infants, Children, and Adolescents. Pediatr Dent. 2017;39(6):239-305.
Khan AJ, Md Sabri BA, Ahmad MS. Factors affecting provision of oral health care for people with special health care needs: A systematic review. The Saudi Dental Journal. 2022;34(7):527-37.