Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
35 Cards in this Set
- Front
- Back
|
Mesenchymal Cells (describe)
|
Stem cells that differentiate to become tissue, organ, bone, cartilage etc. Fill in epithelial cell outlines to great organs, tissues and structures of a fetus.
|
|
|
List 4 primary surgical interventions for clefts & traditional age of surgery
|
Lip closure (0;6)
Palate closure (1;0) Alveolar bone graft (10) dental implants |
|
|
List 3 types of secondary operations (corrections if primary operations are not sufficient)
|
-secondary palatal operations (palatal flap, pharyngoplasty)
-orthognatic and dental surgery -aesthetic surgery for lip and nose |
|
|
Goals of lip repair surgery (5)
|
-close cleft lip
-reconstruct sling of orbicularis oris -reconstruct philtrim and cupid's bow -form anterior floor of nose -restore nasal symmetry |
|
|
Talk about Alveolar Bone Grafting
|
-bone transplant (usually from iliac crest) placed to complete maxillary arch
-teeth should grow in to bone (it will erode without teeth) -timing is crucial: must be timed with eruption of tooth |
|
|
Syndromic vs. non-Syndromic CLP
|
30% syndromic
70% non-syndromic |
|
|
Define Syndrome
|
Recurrent pattern of symptoms of a multi-anomaly disorder related to a single cause (ie. a genetic cause)
|
|
|
Define Sequence
|
The recurrent pattern of symptoms of a multi-anomaly disorder related to an initial anomaly ('chain reaction'). Ex: micrognathia due to mechanical squeezing in utero leads to small oral cavity, leads to cleft palate (can't raise)
|
|
|
Define Association
|
2+ anomalies observed in a recurrent pattern but it is unclear if there is an underlying etiology (ie. if it is a syndrome or a sequence)
|
|
|
contrast deformation vs. malformation
|
Deformation: extrinsic cause, usually mechanical stress or compression
Malformation: intrinsic cause, ie. mutation in genetic code |
|
|
List the 4 interocular measures (and associated syndromes)
|
Normal
Hypertelorism - eyes far apart, trouble with binocular vision (ex. apert, crouzon & 22q11 deletion syndromes) -telecanthus: eyes appear wideset but pupils in proper position (medial in eyes) -hypotelorism: close set eyes (ex. FAS, trisomy 8) |
|
|
Describe the 3 orientations of palpebral fissues (orientation of eyes)
|
1. normal
2. upslant, may indicate microcephaly (brain doesn't push outward) 3. downslant (may be intracranial pressure) |
|
|
What is brachydactyly? + syndromes
What is Arachnodactyly? + syndromes |
B: short fingers/toes proportionally
-downs & cushing A: abnormally long, slender fingers -ex. marfan syndrome |
|
|
What is Amnion Rupture Sequence?
|
Deformation
ADAM: amniotic deformity, adhesion, and mutation -amniotic sac ruptures, bands attach to embryo and restrict growth |
|
|
Describe Pierre-Robin
|
Deformation (if catch-up jaw growth is seen)
Malformation (if catch-up jaw growth not seen) Symptoms: micrognathia, glossoptosis (potential apnea), cleft palate -mechanical compression in utero (jaw doesn't grow) |
|
|
List treatments for resp distress (glossoptosis) in Pierre-Robin
|
1. tracheotomy + gastric tube
2. glossopexy (anterior fixation of tongue) 3. mandibular distraction (make jaw grow, attach a weight) 4. mandibular distraction osteogenesis (not for newborns) |
|
|
What are potential feeding problems for children with Pierre-Robin?
|
-suckling, swallowing & breathing (usually proportional to airway probs)
-can't bring tongue forward enough to suckle (glossoptosis), mandible too far back -cleft does not allow build-up of negative intraoral pressure -GERD tendency |
|
|
Feeding treatment options for Pierre-Robin
|
-Positioning (on the side)
-pacifier (encourage forward tongue movement) -Modified nipples & bottles (Habermann feeder) -Nasogastic NG tube, G-tube -reflux meds |
|
|
What syndromes is Pierre-Robin sequence associated with?
|
Over 30, including, Stickler syndrome, 22q11 deletion, treacher-collins, moebius, FAS
|
|
|
Describe Van-der-Woude Syndrome
|
-autosomal dominant
-variable expressiveness: cleft lip &/or palate, paramedian pits of lower lip |
|
|
Describe Stickler Syndrome
|
aka Arthroophtalmopathy
-autosomal dominant Symptoms: P-R sequence, progressive arthropathy (arthritis), progressive myopia and retinal detachment, progressive sensorineural hearing loss *low set ears |
|
|
Velocardiofacial syndrome (aka 22q11 deletion): describe
|
-autosomal dominant
-most frequent syndrome associated with clefting -est prevalance 1:4000 velar anomalies: cleft palate (occult) submucous cleft palate cardial anomalies: conotruncal malformations facial anomalies: prolonged midface *delayed psychomotor & language dev, psychopathological disorders |
|
|
What are common facies associated with VCF or 22q11 deletion?
|
-long face (large eye to lip distance)
-open mouth posture -relatively small mouth |
|
|
What are anomalous features of VCFS/22q11?
|
-75% w congenital heart disease
(tetralogy of fallot) -immune features (absent/hypoplastic thymus, some immunodeficiency) -endocrine features (hypoparathyroidism --> hypocalcemia) -short stature/growth delay *some: laryngeal web, GERD, severe feeding probs, brain anomalies, renal anomalies (30%) |
|
|
What are some neuro-developmental and psychiatric features of 22q11?
|
Communication: most have severe speech and language impairments, including hypernasal resonance issues
learning: most have learning disabilities/poor abstract reasoning behavioural: anxiety, phobias, social immaturity & ADHD psychiatric: 30% risk in lifetime of major psych disorder (ie schizo, bipolar) |
|
|
Describe Communication Disorders in 22q11
|
-resp & phonatory disorders: high-pitched, strained voice, decreased loudness, poor resp support
-delayed early language milestones -motor sp probs (poor imitation, groping oral movements, poor stimulability, poor sound sequencing) -artic & phon error patterns -low muscle tone (flat facies, tongue protrusion, drooling, nasal regurg, feeding issues) |
|
|
What are referral criteria for Cleft Palate Program for 22q11DS?
|
-all children with cleft lip/palate
-non-cleft but VPI referred for surgical or prosthetic management -children with VPI (therapy only) |
|
|
Describe Beckwith-Wiedeman Syndrome
|
-autosomal dominant
-large at birth + accelerated growth -macroglossia -mandibular prognathism -enlarged internal organs (kidneys, liver, spleen) -hypotonia -cognitive impairment (usually) |
|
|
Describe Down Syndrome
|
-trisomy 21
-flat back of head -upslanting eyes (microcephaly) -hypotonic protruding tongue -short neck -obesity -maxillary hypoplasia -sometimes cleft lip n palate -variable cognitive impairment |
|
|
Describe Fragile X Syndrome
|
-1:1250 males, 1:700 females carry
-long face -2nd to DS as genetic cause of dev disability Language: perseverations, echolalia, jargon, cluttering -delayed speech onset -may have cleft palate, malocclusions, dental anomalies |
|
|
Describe Moebius Syndrome
|
-6th & 7th CN palsy (usually bilateral)
-50% have skeletal anomalies -mask-like facies, ltd facial expression, ltd tongue mobility (CN XII), lip incompetency, VPI [CN IX], ocular ptosis (drooping eye) -chronic otitis media (impact sp) -mild cognitive impairment (10-15%) |
|
|
Describe the treatment for Moebius Syndrome
|
-muscle transplant (gracilis)
-nerve grafting (CN XII) -oral motor therapy (exercises, biofeedback) |
|
|
Describe Goldenhar Syndrome
|
aka oculo-aurico-vertebral spectrum
-branchial arch malformation (maybe intrauterine vascular disruption) -facial asymmetry -spinal anomalies -microtia with hearing loss -ocular anomalies -cleft palate (sometimes lip) -occasional heart disease |
|
|
Describe Mandibulofacial Dysostosis (Treacher-Collins)
|
-autosomal dominant (variable expressiveness)
-malformation of 1st branchial arch --maxillary & mandib hypoplasia -microstomia & downslant mouth corners -hypoplasia of Os zygomaticum -downslant eyes -coloboma (cleft) lower eyelid -variable dysplasia of pinna -variable middle and inner ear malformations |
|
|
Describe Holoprosencephaly Sequence
|
*one of most severe craniofacial syndromes, usually die in first year of life
-incomplete differentiation of prosencephalon -hypotelorism (or cyclopia) -cleft lip n palate (reduced nasal height) *poorly developed frontal lobes, low motivation/drive to live |
