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45 Cards in this Set
- Front
- Back
What can cause a child's eyes to appear crossed (pseudostrab)?
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epicanthal folds
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Epicanthus inversus
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medial skin fold sweeping upward from below
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Superciliaris
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folds arise above the brow and extend downwards to the lateral part of the nose
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epicanthus palepbralis
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equally distributed superior/inferio
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Epicanthal folds are associated with 15 things
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1. telecanthus, 2.down's syndrome, 3.FAS, 4. Cri du chat, 5. Potter, 6. Zellweger, 7. congenital, 8. beckwith, 9. delange syndrome, 10. chromosome deletion syndrome, 11. klinefelter syndrome, 12. turner, 13. ehlers-danlos, 14. marinesco-sjorgen, 15. rubinstein-taybi syndrome
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Cri du chat is AKA (2)
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cat's cry syndrome, 5Pminus syndrome
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What are associated with cri du chat? (2)
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hypertelorism and strabismus
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Potter syndrome
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fetus swallows aminotic fluid and it is reabsorbed by the gi tract and then reintroduced into the aminotic cavity of the kidnesy
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Oligohdyraminos
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if volume of amniotic fluid is less than normal for the period of gestation due to dec. urine production, agensis, etc.
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Zellweger is one ofa group of 4 diseases called
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is one of a group of 4 related diseases called peroxiosome biogensis disorders (PBD), which is part of leukodystrophies.
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What is Zellweger
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inherited conditions that damage white matter of brain
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T/F Zellweger is the least severe of the 4 diseases.
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FALSE, MOST
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Beckwith-Wiedemann syndrome
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congenital grow disorder that causes large body size large organs
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Cornelia de Lange syndrome
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multipl congenital anomalies characterized by distinctive facial appearance, prenatal and postnatal growth deficiency, feeding problems, psychomotor delay, behavioral problems, and associated malformations that involve upper extremities
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Klinefelter syndrome; what is the biggest symptoms?
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men who have extra X chromosome; biggest symptom is infertility because they don't have enough testosterone
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Turner Syndrome
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instead of the normal XX, only one X chromosome is present in females
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Marinsesco-Sjogren Syndrome (4 symptoms)
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RARE, characterized by ataxia, juenvile cataracts, cognitive delay, and small stature
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Rubenstein (4 charaacteristics)
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malformation syndrome characterized by distinctive facies, mental retardation, broad thumbs, and broad great toes.
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Telecanthus: what is it?
Occurs in ___syndrome which is AKA _____. |
It is lateral displacement of the punctum relative to the medial canthus
1)Type I Waardenburg's syndrome 2)dystopia canthorum |
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How is type II Waardenburge distinguished from type I
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by the absence of dystopia canthorum
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4 symptoms of telecanthus (TCAA)
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hypertelorism, Urinary tract probs, abnorm of lips and mouth
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telecanthus hyposapdias (BBB)
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widely space inner ocular canthi and hypospadias of variable degree (optiz syndrome...)
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Telecanthus may occur in association with
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blepharophimiosis
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How do you tx telecatnthus
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surgical shortening of tendon
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telecanthus is associated with __, __, __, __, __
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RTS, treacher collins, truner, waardenburg, mobius
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3 symptoms for Waardenburg
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unibrow, iris heterchromia, deafness
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Mobius syndrome
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birth defect which underdevelopment of CN 6 and 7
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Blepharophimosis Syndrome
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abnormal narrowing of palpebral fissure with dropping and epicanthus inversus
-may be assoc. with MR, ovarian/uterine atrophy, and lacrimal problems |
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Type I Blepharomisosi vs. Type II
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type I- occurs in females and is assoc. with infertility
type II- in both females/male |
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Normal horiztonal fissure and abnoraml fissure in bleopharmosisios
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norm- 25-30mm
abnormal 20-22mm |
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When is surgery usually performed for blepharomiosis
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4-5yrs
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Epiblepharon
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developmental anomaly in which a horiztonal fold of skin and underlying orbicularis muscle stretches across the border of the eyelid and presses the eyelashes inward
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What two things are seen with epiblepharon?
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astigmatism and keratopathy
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T/F epiblepharon is usually NOT bilateral
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True
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Coloboma
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Notch or full thickness defect of eyelid
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Coloboma is associated with (8)
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Treacher Collins Syndrome, cryptopthalmos, Fraser syndrome, Manitoba oculotrichoanal syndrome, facial deformities, Amniotic band syndrome, Oculoauricular dysplasia, Franceschetti syndrome
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Upper coloboma is associate with
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Goldernhar
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Lower coloboma is associated with
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Treacher collins
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Microblepharon
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rare congenital, manifested by vertical shortening of the eyelids characterized by vertical shortage of upper and lower eyelid skin
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T/F Microblepharon is usually bilateral.
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true
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What are the 3 types of cryptophthalmos
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complete variety (most common), incomplete variety, and symblepharon (fusion of upper eyelid skin to superior portion of globe)
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Cryptophthalmos
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eyelids fail to form leaving K and conj exposed
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Pseudocryptophthalmos
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(total ankyloblepharon)
eyelids form but fail to separate |
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Fraser syndrome
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rare genetic syndrome characterized by partial syndactyly, kidney and genital malformations
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Infants with Ablepharon-Macrostomia syndrome have:
1) 2) 3) 4) |
1)underdeveloped upper/lower eyelids
2)absence of eyelashes and eyebrows 3)fish-like mouth (macrostomia) 4)lower set ears |