Anterior Seg Midterm

Front 1

What can cause a child's eyes to appear crossed (pseudostrab)?

Back 1

epicanthal folds

Front 2

Epicanthus inversus

Back 2

medial skin fold sweeping upward from below

Front 3

Superciliaris

Back 3

folds arise above the brow and extend downwards to the lateral part of the nose

Front 4

epicanthus palepbralis

Back 4

equally distributed superior/inferio

Front 5

Epicanthal folds are associated with 15 things

Back 5

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

Front 6

Cri du chat is AKA (2)

Back 6

cat's cry syndrome, 5Pminus syndrome

Front 7

What are associated with cri du chat? (2)

Back 7

hypertelorism and strabismus

Front 8

Potter syndrome

Back 8

fetus swallows aminotic fluid and it is reabsorbed by the gi tract and then reintroduced into the aminotic cavity of the kidnesy

Front 9

Oligohdyraminos

Back 9

if volume of amniotic fluid is less than normal for the period of gestation due to dec. urine production, agensis, etc.

Front 10

Zellweger is one ofa group of 4 diseases called

Back 10

is one of a group of 4 related diseases called peroxiosome biogensis disorders (PBD), which is part of leukodystrophies.

Front 11

What is Zellweger

Back 11

inherited conditions that damage white matter of brain

Front 12

T/F Zellweger is the least severe of the 4 diseases.

Back 12

FALSE, MOST

Front 13

Beckwith-Wiedemann syndrome

Back 13

congenital grow disorder that causes large body size large organs

Front 14

Cornelia de Lange syndrome

Back 14

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

Front 15

Klinefelter syndrome; what is the biggest symptoms?

Back 15

men who have extra X chromosome; biggest symptom is infertility because they don't have enough testosterone

Front 16

Turner Syndrome

Back 16

instead of the normal XX, only one X chromosome is present in females

Front 17

Marinsesco-Sjogren Syndrome (4 symptoms)

Back 17

RARE, characterized by ataxia, juenvile cataracts, cognitive delay, and small stature

Front 18

Rubenstein (4 charaacteristics)

Back 18

malformation syndrome characterized by distinctive facies, mental retardation, broad thumbs, and broad great toes.

Front 19

Telecanthus: what is it?
Occurs in ___syndrome which is AKA _____.

Back 19

It is lateral displacement of the punctum relative to the medial canthus
1)Type I Waardenburg's syndrome
2)dystopia canthorum

Front 20

How is type II Waardenburge distinguished from type I

Back 20

by the absence of dystopia canthorum

Front 21

4 symptoms of telecanthus (TCAA)

Back 21

hypertelorism, Urinary tract probs, abnorm of lips and mouth

Front 22

telecanthus hyposapdias (BBB)

Back 22

widely space inner ocular canthi and hypospadias of variable degree (optiz syndrome...)

Front 23

Telecanthus may occur in association with

Back 23

blepharophimiosis

Front 24

How do you tx telecatnthus

Back 24

surgical shortening of tendon

Front 25

telecanthus is associated with __, __, __, __, __

Back 25

RTS, treacher collins, truner, waardenburg, mobius

Front 26

3 symptoms for Waardenburg

Back 26

unibrow, iris heterchromia, deafness

Front 27

Mobius syndrome

Back 27

birth defect which underdevelopment of CN 6 and 7

Front 28

Blepharophimosis Syndrome

Back 28

abnormal narrowing of palpebral fissure with dropping and epicanthus inversus
-may be assoc. with MR, ovarian/uterine atrophy, and lacrimal problems

Front 29

Type I Blepharomisosi vs. Type II

Back 29

type I- occurs in females and is assoc. with infertility
type II- in both females/male

Front 30

Normal horiztonal fissure and abnoraml fissure in bleopharmosisios

Back 30

norm- 25-30mm
abnormal 20-22mm

Front 31

When is surgery usually performed for blepharomiosis

Back 31

4-5yrs

Front 32

Epiblepharon

Back 32

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

Front 33

What two things are seen with epiblepharon?

Back 33

astigmatism and keratopathy

Front 34

T/F epiblepharon is usually NOT bilateral

Back 34

True

Front 35

Coloboma

Back 35

Notch or full thickness defect of eyelid

Front 36

Coloboma is associated with (8)

Back 36

Treacher Collins Syndrome, cryptopthalmos, Fraser syndrome, Manitoba oculotrichoanal syndrome, facial deformities, Amniotic band syndrome, Oculoauricular dysplasia, Franceschetti syndrome

Front 37

Upper coloboma is associate with

Back 37

Goldernhar

Front 38

Lower coloboma is associated with

Back 38

Treacher collins

Front 39

Microblepharon

Back 39

rare congenital, manifested by vertical shortening of the eyelids characterized by vertical shortage of upper and lower eyelid skin

Front 40

T/F Microblepharon is usually bilateral.

Back 40

true

Front 41

What are the 3 types of cryptophthalmos

Back 41

complete variety (most common), incomplete variety, and symblepharon (fusion of upper eyelid skin to superior portion of globe)

Front 42

Cryptophthalmos

Back 42

eyelids fail to form leaving K and conj exposed

Front 43

Pseudocryptophthalmos

Back 43

(total ankyloblepharon)
eyelids form but fail to separate

Front 44

Fraser syndrome

Back 44

rare genetic syndrome characterized by partial syndactyly, kidney and genital malformations

Front 45

Infants with Ablepharon-Macrostomia syndrome have:
1)
2)
3)
4)

Back 45

1)underdeveloped upper/lower eyelids
2)absence of eyelashes and eyebrows
3)fish-like mouth (macrostomia)
4)lower set ears