A patient with the Weaver syndrome in Puerto Rico: a case report.
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.
Universidad Central del Caribe, Bayamón, Puerto Rico.
Allison
A
Toledo
Alejandro
A
Acevedo-Hernández
Victor M
VM
ViIlegas
Natalio J
NJ
Izquierdo
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D008297:Male; D011647:Puerto Rico