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genoderm, ped > X-LINKED, eye findings > Flashcards

X-LINKED, eye findings Flashcards

1
Q

X-LINKED RECESSIVE SYNDROMES

MNEMONIC

A

CHAD’S KINKY WIFE GOT LUCKY

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2
Q

CHAD’S KINKY WIFE GOT LUCKY

A 
Chronic granulomatous disease
Hunters’ disease
Anhidrotic ectodermal dysplasia
Dyskeratosis congenita
SCID
Menke’s Kinky hair disease
Wiskott-Aldrich
Ichthyosis, X-linked
Fabry’s disease
Ehler’s Danlos V and IX
G6PD deficiency
Lesch-Nyhan
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3
Q

• Chondrodysplasia punctata (Conradi-Hunermann
syndrome)
• CHILD syndrome
• Incontinentia Pigmenti

• Albright’s hereditary osteodystrophy

A

X-LINKED DOMINANT SYNDROMES

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4
Q 
Focal Dermal Hypoplasia
• Bazex syndrome
• MIDAS syndrome
• Oral-facial-digital syndrome
• Goltz
A

X-LINKED DOMINANT SYNDROMES

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5
Q

XLD Disorders “GO CIA”

A 
G oltz
O ral Digital Facial
C onradi-Hunerman, CHILD
I P
A lbright's hereditary osteodystrophy
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6
Q

POEMS Syndrome

A 
P olyneuropathy
O rganomegaly
E ndocrinopathy
M protein (IgG paraproteinemia)
S kin (multiple, especially glomeruloid hemangioma
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7
Q

Sister Chromatid Exchange

“Baby chromatids die frequently”

A

B loom
C ockayne
D yskeratosis congenita
F anconi

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8
Q

Porphyrias

“All Epstein pearls have violaceous edges” for Disease

A 
A IP
E P
P CT (HEP)
H CP
V P
E PP
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9
Q

Hay Wells/ AEC

A

A nkyloblepharon
E ctodermal defects
C left lip/palat

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10
Q

Tuberous Sclerosis Findings

A 
S ebaceum, Adenoma
C alicific CNS nodules
L ymphangiomas, Pulmonary
E pilepsy
R etarded
O ral papillomatosis
S hagreen patch
I (eye) hamartomas
S ubungual fibromas (Koenen's)
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11
Q

NAME Syndrome

A

N evi, lentigines, freckles, blue nevi
A trial myxomas
M yxoid tumors of skin
E ndocrine abnormalities

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12
Q

LEOPARD Syndrome

A 
L entigines
E KG defects
O cular hypertelorism
P ulmonary stenosis
A bnormal genitalia (hypoplastic)
R etarded growth
D eafness, neural
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13
Q

“LaRSSON”

A 
L amellar/Lichenified-like ichthyosis
R etinal glistening dots
S pastic diplegia/Seizures
S hort stature
O ligophonia
N eurologic
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14
Q

CHIME Syndrome

A 
C oloboma
H eart defects
I chthyosis
M ental retardation
E ar anomalies
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15
Q

Birt-Hogg-Dube

F-PART

A 
F ibrofolliculomas
P neumothorax
A chrocordons
R enal cell CA
T richodiscomas
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16
Q

Lens Displacement

• ___Marfan’s

A

Upward with

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17
Q

Lens Displacement

___homocystinuria

A

Downward with

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18
Q 
• Normal
• Ichthyosis
– NB-CIE
– Lamellar
– Netherton
• Harlequin fetus
• Gaucher’s
A

Colloidian Baby

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19
Q
  • Tay-Sachs
  • Niemann-Pick
  • Sialidosis • Sandhoff
A

Cherry Red Spots

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20
Q

Angioid streaks (rupture of Bruch’s membrane)

A

Pseudoxanthoma elasticum

21
Q

Ankyloblepharon

A

CHANDS, Hay-Wells syndrome

22
Q

Atypical retinitis pigmentosa (glistening dot)

A

Sjogren-Larsson

23
Q

Blue sclerae

A

Osteogenesis imperfecta types 1, 2, and 3;

Ehlers-Danlos syndrome

24
Q

Blue sclerae, retinal detachment, ruptured globe,keratoconus

A

Ehlers-Danlos syndrome type 6

25
Q

Blue to gray-blue eyes, prominent red reflex

A

Tyrosinase negative albinism

26
Q

Blue to yellow-brown eyes

A

Tyrosinase positive albinism

27
Q

Brushfield spots

A

Down’s syndrome

28
Q

Choroid malformation

A

Sturge-Weber syndrome

29
Q

Coloboma

A

Focal dermal hypoplasia

30
Q

X-linked ichthyosis

A

Comma-shaped corneal opacities

31
Q

Congenital hypertrophy of retinal pigment epithelium

A

Gardner’s syndrome

32
Q

Corneal clouding, retinitis pigmentosa

A

Mucopolysaccharidosis

33
Q

Corneal opacities, lipodermoid tumors

A

Epidermal nevus syndrome

34
Q

Decreased corneal sensation to tear flow

A

Riley-Day syndrome

35
Q

Dystopia canthorum with heterochromia irides

A

Waardenburg syndrome

36
Q

Eyelid papillomas

A

Xeroderma pigmentosum

37
Q

Eyelid string of pearls

A

Lipoid proteinosis

38
Q

Glaucoma

A

Neurofibromatosis type 1, Sturge-Weber syndrome

39
Q

Juvenile posterior subcapsular lenticular opacity

A

Neurofibromatosis type 2

40
Q

Lester iris (hyperpigmentation of papillary margin of iris)

A

Nail-patella syndrome

41
Q

Lisch nodules, optic gliomas

A

Neurofibromatosis type 1

42
Q

Optic atrophy

A

Biotinidase deficiency

43
Q

Phakomas (astrocytic hamartomas of optic nerve)

A

Tuberous sclerosis

44
Q

Pingeculae

A

Gaucher syndrome

45
Q

Pseudoherpetic keratitis with blindness

A

Richner-Hanhart syndrome

46
Q

Retinal hemangioblastomas

A

Von-Hippel-Lindau syndrome

47
Q

Retinitis pigmentosa (salt & pepper)

A

Refsum

48
Q

Salt and pepper retina

A

Cockayne syndrome, Refsum syndrome

genoderm, ped (8 decks)

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