[Williams-Beuren syndrome: diagnosis and ocular manifestations].
A 24-year-old woman presented with a Williams-Beuren Syndrome which included a characteristic facies, cardiovascular dysfunction and neurologic troubles. Ophthalmic examination showed a stellate pattern of the iris and tortuosities of the retinal vessels. Knowledge of these ocular manifestations could help early diagnosis.
Offret
H
H
Service d'Ophtalmologie, C.H.U. de Bicêtre, Kremlin-Bicêtre cedex.
Laplace
O
O
D000328:Adult; D005124:Eye Abnormalities / Q000209:etiology*; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities; D012171:Retinal Vessels / Q000002:abnormalities; D018980:Williams Syndrome / Q000150:complications / Q000175:diagnosis*
Syndrome de Williams-Beuren: diagnostic et manifestations oculaires.