Genetic/Metabolic/Syndromes Flashcards
1
Q
Omphalocele in infant, diagnosis to consider
A
Beckwith-Wiedemann syndrome
2
Q
Beckwith-Wiedemann syndrome
A
- overgrowth (generalized macrosomia or hemihyperplasia)
- macroglossia
- anterior abdominal wall defects
- neonatal hypoglycemia
- Embryonal Tumors (nephroblastoma, hepatoblastoma)
3
Q
ADPKD Extra-renal manifestations
A
hepatic and pancreatic cysts
cerebral aneurysms
4
Q
Gower Sign
A
uses hands to push up off the floor
concerning for muscular dystrophy
5
Q
Vestibular Schwanomas
A
think NF 2!
6
Q
Stickler Syndrome
A
connective tissue disorder
midfacial hypoplasia; cleft palate; Pierre Robin sequence (PRS); hearing loss; and abnormalities of the eye, including high-grade myopia, cataracts, and increased risk for vitreous abnormalities and retinal detachment
7
Q
Most common syndromes associated with Pierre Robin
A
Treacher Collins
Stickler Syndrome
