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Novel findings in a patient with Weaver or a Weaver-like syndrome

✍ Scribed by Scarano, Gioacchino; Monica, Matteo Della; Lonardo, Fortunato; Neri, Giovanni


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
38 KB
Volume
63
Category
Article
ISSN
0148-7299

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✦ Synopsis


W e report on a young male patient with an overgrowth syndrome, who had normal birth weight. He had a number of manifestations typical of the Weaver syndrome (WS), such as advanced bone age, peculiar craniofacial appearance, and camptodactyly. He also showed severe mental and speech retardation and demineralisation of the bones of the hands and feet. The latter can be considered as unreported manifestations of WS, or the patient could represent an example of a new WS-like syndrome.


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