1.
Bol Asoc Med P R
; 104(1): 43-5, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22788078
RESUMO
We report a 4 year-old boy with clinical features consistent with the Weaver syndrome. In addition to the typical findings, our patient had tarsal epicanthus, intermittent exotropia, hyperopia, and astigmatism. The deletion of the subtelomeric region of 18q has not been previously described in patients with the syndrome. Comparing clinical findings between patients with the de Grouchy and the Weaver syndrome suggest that both entities may be a spectrum of the same disease.