Splenic lobulations in Bardet-Biedl syndrome: a first case report.
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder. It is considered to develop as a result of ciliary dysfunction. There are some clues about splenic expression of ciliary dysfunction. Therefore, splenic anomalies may be expected in BBS. We, here, describe a first case of BBS associated with splenic lobulations.
Doneray
H
H
Department of Pediatrics, Division of Endocrinology, Atatürk University Faculty of Medicine, Erzurum, Turkey. hdoneray@hotmail.com
Orbak
Z
Z
D000293:Adolescent; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis / Q000473:pathology*; D002923:Cilia; D005260:Female; D006801:Humans; D013154:Spleen / Q000002:abnormalities* / Q000000981:diagnostic imaging; D015899:Tomography, Emission-Computed, Single-Photon