Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response

We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound analysis revealed bilateral multicystic dysplastic kidneys. (Source: Auris, Nasus, Larynx)

MedWorm Message: If you are looking to buy something in the January Sales please visit TheJanuarySales.com for a directory of all the best sales in the UK. Any income gained via affiliate links keeps MedWorm running.

from #Head and Neck by Sfakianakis via simeraentaxei on Inoreader https://ift.tt/2QeD5jm