[Aarskog syndrome. A case report]

Area of Science:

• Genetics
• Pediatrics
• Clinical Medicine

Background:

• Aarskog syndrome is a rare genetic disorder affecting connective tissue, characterized by distinctive facial features, short stature, and skeletal abnormalities.
• The syndrome exhibits significant genetic heterogeneity, with mutations in FGD1, FGD2, FGD3, and TNL1 genes implicated in its pathogenesis.

Observation:

• A case report details a 10-year-old boy diagnosed with Aarskog syndrome, born to a mother with a history of epilepsy.
• The patient presented with characteristic features of the syndrome, though the phenotypic expression was relatively mild.
• Maternal epilepsy was noted as a potential contributing factor or associated condition in this case.

Findings:

• The case highlights the importance of recognizing Aarskog syndrome even with subtle phenotypic manifestations.
• Review of clinical features and genetics underscores the variability in Aarskog syndrome presentation.
• The association with maternal epilepsy warrants further investigation into potential shared genetic or environmental influences.

Implications:

• The findings suggest that the incidence of Aarskog syndrome may be underestimated due to mild phenotypes, necessitating increased clinical awareness.
• Further research is needed to elucidate the potential link between Aarskog syndrome and maternal epilepsy, exploring genetic and environmental interactions.
• This case contributes to the understanding of Aarskog syndrome's diverse clinical spectrum and potential comorbidities.