A case of Moebius syndrome in association with Klinefelter syndrome.
OBJECTIVE
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.


CONCLUSIONS
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.
D006801:Humans; D007223:Infant; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D020331:Mobius Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012729:Sex Chromosome Aberrations; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics