Congenital defects — Flashcards

Patients with Zellweger Syndrome present with a profound _____, seizures, and hepatomegaly

What is the cause of death in Potter sequence? _____

Meckel diverticulum typically presents during the first two _____ of life

What demographic is most commonly associated with embryonal rhabdomyosarcoma (sarcoma botryoides)?

What pathology is associated with an enlarged jaw, testes, and ears?_____

Carbamoyl phosphate synthetase I deficiency presents in _____ (age group) as poorly regulated respiration and body temperature, poor feeding, developmental delay, and intellectual disability

Which immunodeficiency presents with recurrent infection, failure to thrive, chronic diarrhea, and thrush? _____

Osteogenesis imperfecta may be confused with _____

Atlantoaxial instability may be seen in patients with _____ syndrome and rheumatoid arthritis

When does X-linked agammaglobulinemia typically present? _____