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 3 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