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98 Cards in this Set
- Front
- Back
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What is Trisomy 21?
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Down Syndrome - A chromosomal abnormality at C21, where the individual has extra genetic material (all or part).
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Who is more at risk for Down Synd?
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Older mothers. R=1/600
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What are some systemic signs and symptoms of Down Syndrome?
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- small chin
- excessive space between large and 2nd toe - congenital heart defects - hypotonia |
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What are some ocular signs and symptoms of Down Synd?
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- oblique fissures (mongoloid) slope upward
- Brushfeld (white spot on iris) - strabismus - decreased accommodation |
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What is Turner's Syndrome?
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Gonadal Dysgenesis - a chromosomal abnormality affecting the sex chromosomes. Born with just one X or one Y chromosome, or may have X and part of another X or Y
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Who is usually affected with Turner Synd?
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F>M
R=1/2500 girls |
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What are some systemic signs and symptoms of Turner Synd?
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- underdeveloped gonadal structures
- low hair line - webbed neck - amanorrhea - lymphedema |
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WHat are some ocular signs and symptoms of Turner Synd?
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- hypertelorism
- corneal nebulae - retinal detachment |
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What treatment is available for Turner Synd?
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Growth hormone
estrogen therapy (replacement) |
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What is Crouzon Syndrome?
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AD; disease characterized by premature closing of cranial sutures [craniosynostosis] which causes 2* facial anomalies
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What are some general sign and symptoms of Crouzon synd?
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- hydrocephalus
- facial abnormality - asymmetric facial structure - beaked appearance - cleft palate - syndactyly |
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What are some ocular sign and symptom of CROUZON?
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- crossed hypers
- V-pattern - SO u/a - hypertelorism |
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What is Treacher-Collins syndrome?
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AD; chromosomal disorder caused by mutation of treacle gene. Causes facial defects
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What are some general signs and symptoms of Treacher Collin Synd?
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- bilateral facial abnormality
- extra skin tags - ear malformation - hearing loss - ears displaced toward angle of mandible |
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What are some ocular sign and symp of treacher collins?
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- anti-mongoloid palpebral fissure
- coloboma of lower lid - eyelashes missing medially from lower lid - underdeveloped EOMs |
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What is Prader Willi Synd?
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abnormality of C15; usually mutation is paternal deletion
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what are some systemic signs and symp of prader willi?
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- obesity
- excessive appetite with no sense of satiety - hypotonia |
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what are some ocular sign and symp of prader willi?
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- strabismus (ET)
- mongoloid fissures - hypopigmentation - foveal hypoplasia - crossed asymmetry |
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What is the treatment for Prader Willi?
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- no cure
- growth hormones - limit caloric intake - monitor for diabetes and life-threatening obesity |
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What is Ehlers-Danlos Synd?
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(Caused by a gene mutation) disease characterized by abnormal COLLAGEN
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What are the three types of Ehlers Danlos with ocular findings?
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type I - gravis (AD)
Type VI - ocular (AR) Type VII - dermatosparaxis (AR) |
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What are systemic signs and symptoms of Ehlers-Danlos?
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I: gravis - hyperextensible skin, bruises easily, slow healing
VI: ocular - stretchable skin, joint dislocations, hypotonia VII: dermatosparaxis - stretchable, bruisable, fragile skin, hypermotility of joints |
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What are some ocular signs and symptoms of Ehlers-Danlos?
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I: gravis - stretchable lids, retinal detachment possible
VI: ocular - blue sclera, retinal detachment with minor trauma, globe rupture with minor trauma VII: dermatosparaxis - hypertelorism, epicanthal folds |
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What is cicatricial pemphigus?
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autoimmune disorder which affects the skin and mucous membranes
- dysregulation of T-lymphocytes - antibodies target adhesion molecules |
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What are some general signs and symptoms of cicatricial pemphigus?
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- lesions!!!!
oral pharynx larynx trachea vaginal anal |
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What are some ocular findings with cicatricial pemphigus?
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- symplepharon
- cicatrizing conjunctivitis - dry eye - red eye |
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What is erythema multiforme?
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Adverse skin reaction of unknown cause. Thought that it may be a hypersensitivity of the body to a particular drug or microorganism; or precipitated by an infection or medication
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What are some general signs and symptoms of erythema multiforme?
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- lesions of the skin especially over abdominal area
- lesions appear in groups - disappear within 2-6 weeks - vasculitis |
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What are some ocular signs and symptoms of erythema multiforme?
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- vasculitis of conjunctival vessels
- conjunctival scarring - neovascularization |
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What is the treatment for erythema multiforme?
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- treat lesions
antibiotics, corticosteroids lube and bandage CL for eye |
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What is Cockayne Synd?
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congenital skeletal disorder (AR).
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What are some signs and symptoms of Cockayne Synd
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- dwarfism
- hearing loss - photosensitive dermatitis - progressive neurological dysfunction |
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What are some ocular signs and sympo of Cockayne Synd?
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- RETINITIC PIGMENTOSA
- retinal detach - miosis unresponsive to mydriatics |
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What treatment is there for Cockayne synd?
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- no cure; short LS
- physio |
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What is retinoblastoma?
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mutation at C13; cancer of the eye [beginning in retina]
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What are some systemic signs and symptoms of retinoblastoma?
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- lethargy
- anorexia - neurologic problems |
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What are some ocular findings with retinoblastoma?
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- leukocoria
- strabismus - proptosis - fixed pupil |
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What are the treatment options for retinoblastoma
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- enucleation
- cryotherapy - photocoagulation - chemotherapy |
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What is hypertension?
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A vascular disease, exact etiology is unknown. Usually primary but can be 2* to another systemic condition
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What are some risk factors for hypertension?
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- age (BP inc with age)
- lifestyle - diet - use of alcohol/tobacco - genetics |
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What are some systemic signs and symptoms of hypertension?
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- dizzy spells
- dull headache - nausea - vomiting - chest pain - nosebleeds |
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What are some ocular findings with hypertension?
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- amarosis fugax
- cotton wool spots - flame hemorrages |
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what is the treatment for hypertension?
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- anti-hypertensive meds
- no cure - monitor diet - at risk for TIA |
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What is Bardet-Biedel Synd?
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AD disorder caused by one of six different gene mutations. More prevalent in areas with high amounts of interfamilial relationships
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What are some general signs and symp of Bardet-Biedel?
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- polydactyly
- obesity - hypogenitalism |
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What are some ocular signs and symptoms of Bardet-Biedel?
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- decreased VA
- RETINITIS PIGMENTOSA - night blindness - photoreceptor degeneration |
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What is the treatment for Bardrt Biedel?
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- decreased life span and no cure.
renal involvement causes death |
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What is Fetal-Alcohol Synd?
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affects the developing embryo as a result of the consumption of alcohol by the mother. 100% preventable physical and mental defects
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What are general signs and symptoms of Fetal Alcohol synd?
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- underweight
- below normal height - developmental problems - learning difficulties - low IQ - behavioral problems - microcephaly |
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What are the three craniofacial characteristics of fetal alcohol synd?
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1- smooth philium
2- thin upper lip 3- small PFW |
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What are some ocular findings in fetal alcohol synd?
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- small PFW
- microphthalmia - strabismus - refractive problems because of small eye |
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What is Shaken Baby Synd?
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type of inflicted head trauma caused by deliberately shaking a baby or infant. Preventable physical and mental damage
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What are some general signs and symp of shaken baby synd?
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- subdural hematoma
- hearing loss - neurological damage - dev delay - seizures |
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What are some ocular findings in Shaken baby synd?
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- retinal hemorrhage
- strabismus - retinal schisis - retinal folds |
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What is Spina bifida?
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"split spine" = latin
developmental problem caused by incomplete closure of neural tube - causing incomplete fusion of spinal vertebrae |
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What are general findings in spina bifida?
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- birthmarks or patches of hair at the lower spine
- lower body paralysis - hydrocephalus - neulogical defects |
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What are the four categories of Spina Bifida?
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1. oculta - mild - no protrusion
2. cyctica - cyst protrudes out of opening 3. meningocele - meninges come thru opening in spine (not common) 4. myelomeningocele - most common - caused when meninges and the spinal nerves protrude out of the spinal opening |
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What are ocular finding in spina bifida?
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- strabismus (usually ET)
- SO o/a - A pattern |
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What is Wilm's tumor?
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nefroblastoma - tumor in one or both kidneys
usually genetic prob |
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What are systemic signs and sym of wilms tumor?
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- lump in abdominal area
- abdominal pain - blood in urine |
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What are ocular signs of wilms tumor?
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- aniridia
- photophobia - glaucoma - strabismus |
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What is Usher syndrome?
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AR disorder caused by gene mutation; characterized by hearing loss, vestibular prob, and RP
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What are the three types of Usher synd?
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Type I: deaf at birth, vestibular problems, RP by age 10
Type II: moderate hearing loss at birth, no vestibular problems, RP by puberty Type III: no congenital problems but all 3 progressively affected - vision first |
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What are general signs and symptoms of Usher synd?
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- hearing loss
- deafness - problems with balance - visual feild defects - developmental delay |
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What are the ocular findings in usher synd?
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- retinitis pigmentosa
- night blindness - blind spots - progressive field loss |
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What is cerebral palsy?
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a neurological disorder with unknown etiology. Although - more at risk are premature babies who had prenatal injury or infection. disorder permanently affects muscle coordination and movement
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What are some general signs and symptoms of CP?
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- early hand preference
- unusual posture - prefer one side of the body - not meeting developmental milestones - problems sucking - problems with fine motor tasks |
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What are some ocular signs and symptoms of CP?
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- strab (usually XT)
- variable strabismus - decreased accommodation - A pattern |
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What is Retinopathy of Prematurity?
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a vasoproliferative disorder affecting premature babies (i.e. affects retinal vasculature)
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What are some general findings with ROP?
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- low birth weight
- premature (below 1000g and 32 weeks) |
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What are some ocular findings with ROP>
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- leukocoria
- strabismus - neovascularization - high myopia - demarcation line |
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What is Guillain Barre synd?
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an autoimmune disorder of unknown etiology in which nerve tissues become infiltrated with WBCs and result in the eventual destruction of te myelin sheath -- causes muscle weakness/paralysis
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Who gets guillain barre synd>
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occurs frewuently after vaccunation or after contracting a viral infection
(C. jejuni common) |
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what are general signs and sym of GBS?
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- tingling and numbness beginning in legs and move up t the body
- muscle weakness in face and neck - difficulty breathing |
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What are ocular signs of GBS?`
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- INO
- CN III palsy - Adie's pupil - CN palsy - gaze palsy - unsteady gait - ophthalmoplegia |
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What is Goldenhar Synd?
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congenital facial anomaly due to neural crest damage during developm,ent
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Who is affected in Goldenhar synd?
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Male more than female!!!
usually sporadic |
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What are general signs and symptoms?
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- skin tags
- facial anomaly - cleft palate - recessed chin - abnormal facial features |
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What are ocular signs and symp of goldenhar synd?
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- duane's syndrome
- strabismus (ET) - UPPER LID COLOBOMA - amblyopia |
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What is Klippel-Feil Syndrome?
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AD congenital anomaly of vertebrae (failure in separation)
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systemic sign and symp of klippel feil?
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- hearing loss
- facial asymmetry - superior spinal abnormality - may just be neck problem |
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What are ocular sign and symp of klippel feil?
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- duanes
- ET - gaze palsy |
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What is Marfan Synd?
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AD CONNECTIVE TUSSUE disorder; mutation at C15
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signs and symptoms of marfan synd>
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tall/long stature
long fingers heart problems pneumothorax |
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What are ocular sign and symop of marfan synd?
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- displaced lens
- cataract - strabismus - amblyopia |
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What is Stickler synd?
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AD disorder affecting collagen.
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systemic sign and symo of stickler synd?
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- hearing loss
- flat nose - broad face - hyperextensible skin |
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what are ocular findings with stickler synd?
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- high myopia
- ret detachment - strabismus |
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Which syndromes have decreased accommodation?
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Cerebral Palsy
Trisomy 21 (DS) |
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Which syndromes have an A-pattern?
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Spina Bifida
Cerebral Palsy |
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Which syndromes have a V-pattern?
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Crouzon Syndrome
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Which syndromes have characteristic mongoloid fissures?
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Trisomy 21
Prader-Willi |
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Which syndromes are associated with obesity?
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Prader-Willi
Turner Syndrome Hypertension Bardet-Biedel Spina Bifida |
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Which are disorders of collagen?
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Ehlers-Danlos
Stickler Synd Marfan Synd |
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Who may have Duane's synd?
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Klippel-Feil
Goldenhar |
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What are orthoptic concerns with CP and downs?
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- a pattern
- VARIABLE strabismus - decreased accom (bifocal) |
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Who may have anti-mongoloid fissures?
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Treacher-Collin
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Which are associated with Retinitis Pigmentosa?
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Usher synd
Cockayne synd Bardet-Biedel |
