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Title: Oculo-auriculo-vertebral spectrum in Klinefelter syndrome
Authors: Garavelli, L ×
Virdis, R
Donadio, A
Sigorini, M
Banchini, G
Balestrazzi, P
Fryns, Jean-Pierre #
Issue Date: 1999
Series Title: Genetic Counseling vol:10 issue:3 pages:321-4
Abstract: 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.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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