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Oculo-auriculo-vertebral spectrum in Klinefelter syndrome
L Garavelli1, R Virdis, A Donadio
1Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy.
Genetic Counseling (Geneva, Switzerland)
|November 5, 1999
Summary
This study presents a boy with Klinefelter syndrome (47,XXY) and oculo-auriculo-vertebral spectrum (OAV). The findings suggest OAV might be linked to craniofacial anomalies in Klinefelter syndrome.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
- Clinical Dysmorphology
Background:
- Klinefelter syndrome (47,XXY) is a genetic condition affecting males.
- Oculo-auriculo-vertebral spectrum (OAV) encompasses a range of congenital craniofacial anomalies.
- Previous reports have documented co-occurrences of KS and OAV.
Observation:
- A case report of a male patient with classical 47,XXY Klinefelter syndrome (KS).
- The patient also presented with features of the oculo-auriculo-vertebral spectrum (OAV).
- This adds to the limited existing literature on the combined occurrence of these conditions.
Findings:
- The co-occurrence of KS and OAV in this patient is noted.
- Previous literature includes two patients with both KS and OAV.
- The combination of KS with bilateral aplasia of the mandibular ramus and condyle has also been documented.
Implications:
- The findings support the heterogeneous etiology of hemifacial microsomia.
- Oculo-auriculo-vertebral spectrum (OAV) may represent a component of the craniofacial anomalies associated with Klinefelter syndrome (KS).
- Further research is warranted to understand the potential genetic and developmental links between KS and OAV.