[Rubinstein-Taybi syndrome in 4 cases].
The authors report on 4 cases of Rubinstein-Taybi syndrome. The specific features of this clinical entity of unknown aetiology, are emphasized: mental retardation, characteristic faecies, broad thumbs and large toes; short stature and cryptorchidism are often associated.
Labenne
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Service de pédiatrie, CHU de Besançon, Besançon, France.
Noir
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A
Amsallem
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D
Bertrand
A M
AM
Menget
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Burguet
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A
D002648:Child; D002675:Child, Preschool; D005146:Facial Asymmetry / Q000209:etiology; D005260:Female; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000150:complications / Q000175:diagnosis*; D013933:Thumb / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities
Illustration du syndrome de Rubinstein-Taybi par quatre observations.