AARSKOG SYNDROME
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Different Opinions:
Aarskog syndrome can present with new oral-facial findings, including enamel dysplasia, a "col" deformity of the anterior mandible, and facial muscle paresis.
Melnick, M., & Shields, E. (1976). Aarskog syndrome: New oralโfacial findings. Clinical Genetics, 9. https://doi.org/10.1111/j.1399-0004.1976.tb01545.x.
Ophthalmic examination is crucial in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.
Brodsky, M., Keppen, L., Rice, C., & Ranells, J. (1990). Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome.. American journal of ophthalmology, 109 4, 450-6 . https://doi.org/10.1016/S0002-9394(14)74612-4.
Aarskog's facial-digital-genital syndrome may be fairly common and early diagnosis through a syndrome identification centre could lead to earlier diagnosis of children with this and other syndromes.
Berry, C., CREE, A., & Mann, T. (1980). Aarskog's syndrome.. Archives of Disease in Childhood, 55, 706 - 710. https://doi.org/10.1136/adc.55.9.706.
Aarskog-Scott syndrome is associated with high prevalence of craniofacial, orthopaedic, and genitourinary tract clinical findings, but not directly related to underlying genotypes.
Drumond, V., Salgado, L., Salgado, C., Oliveira, V., Assis, E., Ribeiro, M., Valadรฃo, A., & Orrico, A. (2021). The Prevalence of Clinical Features in Patients with AarskogโScott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review. Genetics Research, 2021. https://doi.org/10.1155/2021/6652957.
Aarskog syndrome in a large Arabic family with a 2189delA mutation in the FDG1 gene shows clinical variability in cognitive skills, suggesting other genetic factors may play a role in phenotypic evolution.
Shalev, S., Chervinski, E., Weiner, E., Mazor, G., Friez, M., & Schwartz, C. (2006). Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. American Journal of Medical Genetics Part A, 140A. https://doi.org/10.1002/ajmg.a.31033.
A new FGD1 gene variant has been identified in a Chinese family study, providing insights into the link between phenotype and genotype variations in Aarskog-Scott syndrome, aiding in diagnosis and treatment.
Liang, Y., Wu, H., He, X., & He, X. (2022). Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study. Frontiers in Genetics, 13. https://doi.org/10.3389/fgene.2022.932073.
Mutations in FGD1 gene may cause Aarskog-Scott syndrome, expanding the disease-causing mutation spectrum and highlighting the importance of considering neuropsychological phenotypes in patients.
Orrico, A., Galli, L., Cavaliere, M., Garavelli, L., Fryns, J., Crushell, E., Rinaldi, M., Medeira, A., & Sorrentino, V. (2004). Phenotypic and molecular characterisation of the AarskogโScott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. European Journal of Human Genetics, 12, 16-23. https://doi.org/10.1038/sj.ejhg.5201081.
Aarskog-Scott syndrome (AAS) is a rare developmental disorder with a complex phenotype and genetic heterogeneity, and next generation sequencing can potentially identify novel mutations underlying the condition.
Jabalameli, M., Briceรฑo, I., Martinez, J., Pengelly, R., Ennis, S., & Collins, A. (2016). Aarskog-Scott syndrome: phenotypic and genetic heterogeneity. AIMS Genetics, 03, 049 - 059. https://doi.org/10.3934/genet.2016.1.49.
Aarskog syndrome (AS) is a complex, multisystemic disorder with wide phenotypic variability, and its diagnosis requires considering both primary and secondary criteria.
Teebi, A., Rucquoi, J., & Meyn, M. (1993). Aarskog syndrome: report of a family with review and discussion of nosology.. American journal of medical genetics, 46 5, 501-9 . https://doi.org/10.1002/AJMG.1320460508.