A patient with the Weaver syndrome in Puerto Rico: a case report
Toledo, A.; Acevedo-Hernández, A.; ViIlegas, V.M.; Izquierdo, N.J.
Boletin de la Asociacion Medica de Puerto Rico 104(1): 43-45
2012
ISSN/ISBN: 0004-4849 PMID: 22788078 Document Number: 702284
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.