Hypoparathyroidism-retardation-dysmorphism syndrome
A 13-year-old Hindu male child 4th born to a consanguineously married couple with uneventful perinatal event, having delayed social and personal development was brought with spasms of the upper and lower limbs. He has been suffering from similar episodes of spasms frequently since the age of 5 years. He also had developmental bilateral cataract for which he was operated at the age of 6 years. At admission, he had carpopedal spasm and his vitals were normal. His weight was 29 kg (<5th centile), height 132 cm (<5th centile) and head circumference 49 cm (<3rd centile). On examination, he had facial dysmorphism features like long face, prominent forehead, bilateral dropping of eyelids, preauricular tag on the right side, bilateral pseudophakia with posterior capsular opacification (secondary), beaked nose, depressed nasal bridge, long philtrum, high arched palate, maloccluded teeth, micrognathia and microcephaly []. Latent tetany signs Trousseau sign and chvostek sign were positive. Intelligent quotient assessment revealed mild mental retardation. Other systems examinations were normal. One of his sisters also had operated for developmental cataract at the age of 4 years, having delayed social and personal development, similar facial dysmorphism [] but no tetany or latent tetany signs. Both parents and other two sibs were phenotypically normal.\nHis investigations revealed normal blood counts and peripheral smear. His serum calcium was 6.8 mg/dl, serum phosphorus 7.1 mg/dl, serum magnesium 2.2 mg/dl, serum albumin 3.2 g/dl, alkaline phosphatase 124 U/L and intact PTH was 5.46 pg/ml (N = 15-65 pg/ml). Blood urea, blood sugar, serum creatinine and electrolytes were normal. Urine chromatography was normal and urinary pH 8. His urine for sugar and ketones was absent. Chest X-ray, humerus X-ray and ultrasound abdomen was normal. Computerized tomographic (CT) scan of the head showed bilateral globus pallidus calcification. Audiogram showed mild hearing loss on the left side with normal hearing on the right side. He was started on intravenous calcium gluconate slow infusion for 2 days followed by calcium tablets. His facial dysmorphic sister serum calcium, phosphorus, magnesium, albumin, alkaline phosphatase, intact PTH and CT head were normal.