#medpedsrox

Wolf-Hirschhorn Syndrome--1:97,000 usually de novo deletion of 4p (short arm). Leads to microcephaly, seizures, heart defects, scoliosis, pulmonary infections, and renal failure. The larger the mutation, the shorter the life expectancy; patients typically die by 2-6 years. I once heard a case presentation about a patient who was still living at 24, but her state-funded adjunctive therapies had been discontinued at 21, and she continues to receive dialysis at the pediatric hospital. What will we as a profession and a society do now that many children are living longer with multiple health care needs? This is the patient population I want to serve as a MedPeds doctor, but I can't go it alone. #TeachingRounds, #FOAMed, #genetics, #development, #MedPedsRox, #advocacy