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Aarskog syndrome associated with hypermetropia and toe anomaly
H Caksen1, S Kurtoğlu, A Ciftçi
1Departments of Pediatrics and Ophthalmology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
Summary
Aarskog syndrome, a genetic disorder, presents with short stature and distinctive facial, skeletal, and urogenital features. This report details a unique case with previously undescribed toe abnormalities, expanding the known Aarskog syndrome phenotype.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Aarskog syndrome is a rare genetic disorder characterized by significant short stature, facial dysmorphia, skeletal abnormalities, and urogenital anomalies such as shawl scrotum and cryptorchidism.
- Ophthalmic manifestations commonly include hypertelorism, blepharoptosis, strabismus, and refractive errors like hypermetropic astigmatism.
Observation:
- This report focuses on a 7 1/2-year-old male exhibiting classic Aarskog syndrome features.
- The patient presented with additional, previously undocumented abnormalities: bilateral proximal implantation of the fifth toes and hypermetropia.
Findings:
- The case confirms typical Aarskog syndrome phenotypic features.
- The novel finding of bilateral proximal fifth toe implantation expands the spectrum of known skeletal anomalies associated with Aarskog syndrome.
- Hypermetropia was also noted as a significant ocular finding in this patient.
Implications:
- This case broadens the understanding of Aarskog syndrome's phenotypic variability.
- Recognition of these associated anomalies is crucial for comprehensive diagnosis and management of Aarskog syndrome patients.
- Further research may elucidate the genetic underpinnings of these extended phenotypic expressions.