Congenital defects — Flashcards

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

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

Meckel diverticulum typically presents during the first two _____ of life

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

What is the cause of death in Potter sequence? _____

Osteogenesis imperfecta may be confused with _____

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

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

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

_____ disease is characterized by defective relaxation and peristalsis of the rectum and distal sigmoid colon