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Presentation and Treatment of a Patient With Jacobs Syndrome and Metopic Craniosynostosis
Tyler J Swearingin1, Benjamin J Kirby2, Arshad R Muzaffar3
1University of Missouri School of Medicine.
Insights
Jacobs syndrome (47, XYY) is rare, but this case highlights its association with metopic craniosynostosis, a condition not previously linked to this genetic disorder. Early diagnosis is crucial for managing associated health issues.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Jacobs syndrome (47, XYY) is a rare chromosomal condition affecting approximately 1 in 1000 male births.
- It is associated with various clinical features including tall stature, macroorchidism, and potential neurodevelopmental challenges.
- Craniosynostosis, the premature fusion of cranial sutures, affects about 1 in 2000 live births, often syndromic.
Observation:
- This report details a patient with Jacobs syndrome presenting with metopic craniosynostosis.
- This specific combination has not been previously documented in medical literature.
- The phenotypic presentation of Jacobs syndrome can be subtle, potentially delaying diagnosis.
Findings:
- The case demonstrates a novel association between Jacobs syndrome and metopic craniosynostosis.
- Metopic synostosis involves the premature fusion of the frontal bone suture.
- This finding expands the known spectrum of clinical manifestations in Jacobs syndrome.
Implications:
- This case broadens the understanding of potential comorbidities in Jacobs syndrome.
- It suggests that craniosynostosis should be considered in the differential diagnosis of patients with Jacobs syndrome.
- Further research is warranted to explore the potential genetic or developmental links between these conditions.
Abstract:
Jacobs syndrome is a rare trisomy (47, XYY) found in ~1 in 1000 male children associated with infertility, autism spectrum disorders, macrocephaly, hypertelorism, tall stature, and macroorchidism. Diagnosis is often delayed due to relatively subtle phenotypic changes. Craniosynostosis, a fusion of the cranial sutures, has been described in ~1 in 2000 live births, of which 25% are related to a diagnosed syndrome with the most common being Apert and Crouzon. Craniosynostosis does not have a known association with Jacobs syndrome and no prior cases have been reported. This case report seeks to describe the presentation and treatment of a patient with Jacobs syndrome and metopic craniosynostosis.
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