True about pendred syndrome:: (A) Genenralised edema, (B) No goiter, (C) Mental retardation, (D) B/L sensory neural deafness
Answer is D. PENDRED syndrome: Autosomal recessive disorder Caused by mutations in the PDS gene on chr 7 - codes for pendrin (SLC 26A4) - chloride-iodide transpoer, impoant in hearing and thyroid pathway. FEATURES: Congenital b/L SNHL+ Goitre & Hypothyroidism