Clinical findings of the family members.

Individuals correspond to those shown in Fig. 1. i-phosphate: inorganic phosphate; SD: standard deviation; F: female; M: male; and N.E.: not examined. aReference values: calcium, 9.0–11.0 mg/dL in infants and 8.8–10.2 mg/dL in adults; inorganic phosphate, 4.8–7.5 mg/dL in infants and 2.5–4.5 mg/dL in adults, and intact PTH, 10–65 pg/dL in infants and 14–55 pg/dL in adults. Conversion factor to the SI unit: 0.25 for calcium (mmol/L), 0.32 for inorganic phosphate (mmol/L), and 0.106 for intact PTH (pmol/L). bExamined by echocardiography, chest roentgenography, and/or electrocardiography. cExamined by computed tomography. dReceived velopharyngeal closure. eOn treatment with vitamin D. fRepeated otitis media only. gReceived speech therapy. hRequired hearing aids. iAt the time of diagnosis (11 years of age), serum TSH was <0.01 mIU/L, free T3 33.1 pg/mL [51.0 pmol/L], free T4 5.11 ng/dL [65.8 nmol/L], and TSH receptor antibody 1284% [normal range <1.9%].