Congenital defects — Flashcards

What will exam show in Hirschsprung's? _____ rectal tone

Hint: ↑/↓

What does a normal gas pattern distal to point of obstruction on babygram indicate? _____

_____ is associated with ↑ risk of cystic hygromas (lymphangiomas)

Hint: congenital condition

Is gastroschisis or omphalocele associated with more health concerns? Which one most commonly? _____

Congenital diaphragmatic hernia is associated with lung _____

Fragile X Syndrome: _____ Repeats _____ gene repression due to hypermethylation _____ inheritance _____ _____

Isolated horner syndrome and cervical paravertebral mass is suggestive of _____

Hint: diagnosis

Usually detected on prenatal screen, but also: - immigrant with limited healthcare - meconium ileus (first day of life) - recurrent pulmonary infections (older) - failure to thrive (loss of pancreatic exocrine function) - salty baby → _____

Hint: diagnosis

Does Beckwith-Wiedemann syndrome present with mid-face hypoplasia? _____

Neonate with an NG tube coiling in the esophagus = _____