Clinical History.—A normal appearing female infant was born by cesarean section because of cephalopelvic disproportion. The mother was short (height, 142.2 cm [4 ft 8 inches]), obese, and slightly mentally retarded. Beginning at 2 days of age, the infant had severe diarrhea refractory to formula change. Despite three hospitalizations, the birth weight of 3,400 gm (7 lb 8 oz) had diminished to 2,900 gm (5 lb 4 oz) at 3 months of age. Examination revealed a small child with a large tongue. There were white plaques of Monilia on the oral membranes and perineum. Her protein-bound iodine level measured 2.4 mg/100 ml, and a regimen of thyroid extract was prescribed, in oral doses. Eventually diarrhea was replaced by constipation, which responded to rectal suppositories.
Physical Examination.—At 13 months of age, grand mal seizures began. The patient was unable to sit without support. She was short, measuring 68.5 cm