Mayo Clinic Proceedings 1992-Jun
Tibia vara in a patient with Bardet-Biedl syndrome.
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Abstraktne
The Bardet-Biedl syndrome is characterized by polydactyly, hypogonadism, obesity, mental retardation, and retinitis pigmentosa. Several other skeletal findings include hip dysplasia, short stature, and skull deformities. The patient described in this report has the classic findings of Bardet-Biedl syndrome in conjunction with tibia vara and irregular physes of the lower extremities.