Four of 13 patients with idiopathic hypoparathyroidism had associated congenital anomalies of branchial origin. Three had characteristic hypernasal speech. One of these patients exhibited a cleft palate and the other two had functional and anatomic anomalies of the velo-pharyngeal musculature which explained the speech disturbance. The fourth patient represents the twenty-second recorded case of the III and IV pharyngeal pouch (DiGeorge's) syndrome, manifested by absent parathyroids and thymus glands associated with unusual facial features and cardiovascular anomalies. Our four patients exhibited a total of 15 congenital anomalies of branchial origin. By including our patients with those reviewed from the literature, 156 patients with idiopathic hypoparathyroidism had a total of 40 different kinds of anomalies of branchial or primitive pharyngeal origin, including absence of the parathyroids. These anomalies of branchial origin may occur alone or in combination. We recommend that the term branchial dysembryogenesis be employed to broaden the III and IV branchial pouch syndrome by including multiple defects of branchial origin whether or not the parathyroids are included. Parathyroid insufficiency should be considered in patients with single or multiple congenital anomalies derived from the branchial arches and pouches.
Miller, Michael J.; Frame, Boy; Poznanski, Andrew K.; Jackson, C. E.; and Bermudez, Gustave
"Branchial Anomalies in Idiopathic Hypoparathyroidism: Branchial Dysembryogenesis,"
Henry Ford Hospital Medical Journal
: Vol. 20
Available at: https://scholarlycommons.henryford.com/hfhmedjournal/vol20/iss1/2