Oculo-auriculo-vertebral spectrum in Klinefelter syndrome.
We report a boy with classical 47,XXY Klinefelter syndrome (KS) and oculo-auriculo-vertebral spectrum (OAV). Two patients with KS and OAV were reported previously. Also, the combination of bilateral aplasia of the mandibular ramus and condyle and KS has been documented. The present observation supports the view that the cause of hemifacial microsomia appears heterogeneous and that OAV may be part of the spectrum of craniofacial anomalies associated with KS.
Garavelli
L
L
Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy.
Virdis
R
R
Donadio
A
A
Sigorini
M
M
Banchini
G
G
Balestrazzi
P
P
Fryns
J P
JP
D002648:Child; D004423:Ear / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D013131:Spine / Q000002:abnormalities*