Novel findings in a patient with Weaver or a Weaver-like syndrome.
We 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.
Scarano
G
G
Centro di Genetica Medica, Ospedale San Giuseppe Moscati, Avellino, Italy.
Della Monica
M
M
Lonardo
F
F
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D002675:Child, Preschool; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D008297:Male; D013064:Speech Disorders / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome