LAUSR

A female neonate is born at 33 weeks of gestation via urgent cesarean section secondary to severe preeclampsia with hemolysis, elevated liver enzymes, and low platelet count syndrome. On examination, her weight is 1.18 kg (1st percentile), length 39.5 cm (5th percentile), and head circumference 27 cm (1st percentile). She is well appearing with white sclera, normal tone, and appropriate reflexes. She has scaphocephaly, a soft skull, proptosis with shallow orbits, low-set ears, swelling of the right wrist, a widened fontanelle, prominent knobs along her ribs, and frontal bossing. Laboratory results are notable for normal serum calcium, low serum phosphorous, elevated parathyroid hormone, low 25-hydroxyvitamin D, elevated 1,25-dihydroxyvitamin D, normal urine electrolytes, and negative findings on New York State newborn screening (Table 1). Radiographs obtained shortly after birth show bony demineralization, metaphyseal flaring particularly at the wrists and knees, metaphyseal fractures, and bilateral rib fractures (Fig). The maternal history is significant for 5 previous miscarriages, nonadherence with taking prenatal vitamins, a diet containing minimal dairy products, and modest dress for religious observance, with limited skin exposure to natural sunlight. The parents are consanguineous. View this table: Table 1. Initial Laboratory Testing Figure. Frontal view of the chest demonstrates bone demineralization, flaring of the metaphyses at the wrist (arrows), and metaphyseal fractures (arrowheads). Bilateral rib fractures are noted (asterisk). Knee films demonstrated …