title: The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.
abstract: The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing loss is usually bilateral, range from mild to profound impairment. Renal disease includes dysplasia, hypoplasia or aplasia.
authors.forename: Ratti Lal
authors.initials: RL
authors.lastname: Meena
authors.forename: Sudheer Kumar
authors.initials: SK
authors.lastname: Maloo
authors.forename: Neera
authors.initials: N
authors.lastname: Samar
authors.forename: Asim
authors.initials: A
authors.lastname: Ruhela
authors.forename: Subhash
authors.initials: S
authors.lastname: Saini
mesh_terms: D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis*; D008297:Male; D009401:Nephrosis / Q000175:diagnosis*; D055815:Young Adult