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A case of Moebius syndrome in association with Klinefelter syndrome
Patrick C Yeh1, Michael A Kipp
1Pediatric Ophthalmology and Adult Strabismus Service, Department of Ophthalmology, The University of Chicago Hospitals, Chicago, IL 60637, USA.
Purpose:
To describe an infant affected by Klinefelter syndrome, who also demonstrated clinical signs of Moebius syndrome.
Methods:
A clinical case report.
Results:
A male infant was born full-term to a healthy couple after an unremarkable pregnancy. Several dysmorphic features and generalized hypotonia were noted at birth. Chromosome study revealed a 47, XXY chromosome pattern, which is consistent with Klinefelter syndrome. The patient also demonstrated clinical findings of Moebius syndrome: bilateral horizontal gaze palsy, bilateral cranial nerve seven palsy, pointed tongue, pectoral muscle hypoplasia, and clubfeet.
Conclusion:
We report the first clinical case of a patient with Klinefelter syndrome who was also affected by Moebius syndrome. Although clinically intriguing, coexistence of the two syndromes most likely represents a chance occurrence.