Case of the Month: Pediatric ESAP™

esap 2017

This issue highlights Pediatric Endocrine Self-Assessment Program. Test your clinical knowledge and prepare for your exam. Available on the online store.


Clinical Vignette

You are called by the neonatal intensive care unit to consult on a newborn girl with fractures. The baby’s parents state concerns were initially raised after a 20-week prenatal ultrasound showed femoral bowing and undermineralization of the skull. There were no additional complications with the pregnancy, and the baby was born full term by spontaneous vaginal delivery. On physical examination, you note shortened, bowed extremities; a small chest; and a triangular-shaped skull with a soft calvarium. You review her skeletal survey, which shows multiple rib fractures, mildly reduced lung volumes, and a right humerus fracture. You discuss your suspected diagnosis with the family and order genetic testing.

This patient’s type of disease is most commonly associated with which of the following?

  1. Strong genotype-phenotype correlation
  2. Fewer fractures in infants born via cesarean delivery
  3. Severe short stature
  4. Hearing loss
  5. A decrease in fracture rate with age