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45 Cards in this Set

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