Sir.—Pabst et al recently reported in the Journal two cases of partial DiGeorge syndrome with substantial cell-mediated immunity (130:316, 1976). Their second case exhibited normal, although scanty, thymus tissue and normal lymph node tissue at autopsy. Associated anomalies from branchial levels other than the third and fourth levels were present in both cases described. Lip and external ear anomalies evolve from branchial level I and pulmonary artery anomalies evolve from branchial level VI.1 Since the DiGeorge syndrome is also called the "III and IV branchial pouch syndrome,"2.3 both terms are therefore misleading. In 1972,4 we reported on four patients with congenital hypoparathyroidism and associated anomalies of other branchial arches and pouches. One was an infant with a classical "DiGeorge syndrome" who died soon after birth. The most characteristic features in the other three patients, in addition to congenital hypoparathyroidism, were (1) a peculiar hypernasal speech resulting
MILLER MJ. Partial DiGeorge Syndrome or Branchial Dysembryogenesis? Am J Dis Child. 1976;130(12):1376–1377. doi:10.1001/archpedi.1976.02120130082023
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.