genetic syndromes Flashcards
what are 6 HEENT characteristics of down syndrome? (B, M, TAH, M, ST, SN)
- brachycephaly
- macroglossia
- tonsil and adenoid hypertrophy
- micrognathia
- small trachea
- short neck
what are 7 characteristics of down syndrome? (O, C, H, MR, A, A, H)
- OSA
- CHD
- hypotonia
- mental retardation
- atlantooccipital
- atlantoaxial
- hypothyroidism
what % of down syndrome have congenital heart disease?
50%
why do we use neck stability when intubating down syndrome pts?
atlantoocipital instability
what are 2 reasons we downsize ETT in down syndrome pts? (SN, ST)
small neck, small trachea
what do down syndrome pts become with mask induction and during anesthesia?
bradycardic
what % range of down syndrome pts become bradycardia with induction meaning you should step up sevo slowly?
25-60%
what does CATCH22 in Digeorge syndrome stand for?
- cardiac defects
- abnormal facies
- thymic hypoplasia
- cleft palate
- hypocalcemia
what are the 3 most common features of digeorge syndrome? (CM, SD, I)
- cardiac malformation
- speech delay
- immunodeficiency
digeorge and anesthesia
- what type of airway can you not place in these pts?
- what electrolyte level are you checking preop?
- what type of blood products do they receive?
- what type of prophylaxis may they receive?
- possible exaggerated response to exogenous what because there may be a defect to COMT enzymes? (C)
- nasal
- calcium
- irradiated
- subacute bacterial endocarditis
- catecholamines
down syndrome are more sensitive to what med d/t cholinergic and adrenergic receptor imbalances?
atropine
what’s the big difference between ppl with apert and ppt with crouzon?
ppl with apert are mentally retarded. ppl with crouzon have no intellectual disabilities.
apert syndrome:
- what do these pts have that makes intubation difficult? (CA)
- tracheal stenosis in these pts make it difficult to clear what, put them at risk for injury where, and cause them to have a high incidence of postop what?
- what are 2 reasons for developmental complications in these pts? (I, O)
- consider that these pts may have an increased what?
- because of their congenital heart disease, these pts may need what 2 things?
- placement of what device on these pts can increase difficulty with intubation? (MDD)
1.
- secretions, injury, wheezing
- increase ICP, OSA
- ICP
- cardiac clearance, subacute bacterial endocarditis
- maxillary distraction devices
digeorge is the deletion of what chromosome and mutation in what gene?
22q11.2 chromosome, TBX1
apert syndrome is the mutation of what gene on what chromosome?
fibroblast growth factor 2 gene on chromosome 10
mucopolysaccharidosis is x linked recessive or dominant?
recessive
mucopolysaccharidosis is caused by the absence of what lysosomal enzyme? (IS)
iduronate sulfatase
mucopolysaccharidosis :
- what are the 2 types?
- which type is the most severe?
- good or poor mask fit?
- what type of intubation technique is needed for these pts?
- is hurler syndrome the worst airway in peds?
- should you have multiple back up plans?
- hurler, hunter
- hurler
- poor
- fiberoptic
- yes
- yes
pierre robin:
- what are 4 characteristics of this? (M, G, CSP, OA)
- what are 4 techniques to prevent obstructive apnea? (PP, NA, ST, T)
- what results from chronic airway obstruction?
- why are these pts poor feeders?
- micrognathia, glossoptosis, cleft soft palate, obstructive apnea
- prone positioning, nasopharyngeal airway, suture tongue, tracheostomy
- cor pulmonale
- difficulty eating and breathing at the same time
treacher collins:
- effects the bone where?
- does it get better or worse with age?
- these kids have losses in what 2 sense?
- face
- better
- visual, hearing
goldenhar:
- hypoplasia of what bones?
- limited what opening?
- deviation of what?
- does it get better or worse with age?
- face
- opening
- mandible
- worse
goldenhar:
- what % have OSA?
- difficulty fitting correct mask?
- what 3 things facial structures are absent in this syndrome?
- 24%
- yes
- ramus, condyle, TMJ
