A Newborn with No Bones: Neonatal Hypophosphatasia with Respiratory Distress

A male infant was born as the first child of nonconsanguinous parents. Antenatal ultrasound had identified polyhydramnios, mesomelic fetal limb shortening, and a small fetal thoracic cavity concerning for a skeletal dysplasia with hypoplastic lungs. Amniocentesis at 21 weeks of gestation showed no FGFR3 mutation to indicate thanatophoric dysplasia or achondroplasia. At term emergency cesarean delivery was undertaken for fetal bradycardia, and the child developed severe respiratory distress requiring intubation and ventilation at 3 minutes of life.

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