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.
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| http://dx.doi.org/10.1076/opge.23.3.185.7884 | DOI Listing |
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