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Shit I forget > Syndromes > Flashcards

Syndromes Flashcards

1
Q

Holt Oram

A

AD
absent thumb, radial club hand
cardiac abn

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2
Q

Fanconi anemia

A

AR-DNR repair genes
dx: mitomycin C
hypoplastic thumb, absent radii, cafe au lait spots
lethal pancytopenia, short, genital abn, microcephaly

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3
Q

TAR (thrombocytopenia absent radii

A

no radii

neonatal thrombocytopenia

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4
Q

Roberts

A

tetraphocomelia

brain, craniofacial abn

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5
Q

VACTERLS

A 
Vertebral abn
Anal atresia
Cardiac abn
TEF
Renal/Radial abn
Limb abn
Single umbilical artery
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6
Q

Mobius

A

CN VI, VII palsy–cannot move facial muscles or eyes laterally
Oligodactyly (missing fingers), club feet, syndactyly

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7
Q

Treacher Collins

A

AD
mandibulofacial dystosis
bilateral Tessier clefts 6,7,8
bilateral microtia, absent/hypoplastic zygotes, orbital clefts, down slanting palpebral fissures, micrognathia

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8
Q

Goldenhar

A 
oculoauricularvertebral syndrome (OAVS)
hemifacial microsomia
microtia
epibulbar dermoids, vertebral anomalies
renal anomalies
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9
Q

Nager

A

AR
hypoplastic thumb/radius
facial anomalies similar to treacher collins
may have absent soft palate

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10
Q

Trisomy 21

A

MR

brachycephaly

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11
Q

holoprosencephaly

A

incomplete separation of the sides of the brain

hypotelorism, mesoderm deficiency in the midline

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12
Q

Parry Romberg

A

progressive hemifacial atrophy
CNV distribution, coup de sabre lesion
Neurologic/cranial abn

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13
Q

CHARGE

A 
coloboma
heart
atresia (choanal) -- paradoxical cyanosis
retarded growth
genital hypoplasia
ear abn
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14
Q

Binder

A

maxillonasal dysplasia
lack of anterior nasal spine
midface hypoplasia
induced by coumadin

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15
Q

Klippel Feil

A

low posterior hairline
short neck
cervical or other spine fusion

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16
Q

McCune Albright

A

AD
defect ca/phos metabolism
polyosteotic fibrous dysplasia, precocious puberty, cafe au lait

17
Q

Pfeiffer

A

AD, FGFR 1/2
coronal suture, sometimes cloverleaf
down slanting palpebral fissures, hypertelorism
short/wide thumbs

18
Q

Crouzon

A

AD, FGFR 2
bicoronal
chiari, midface hypoplasia
acanthosis nigrans

19
Q

Apert

A 
AD, FGFR 2
bicoronal 
acne
pansyndactylies of hands/feet
MR
20
Q

Muenke

A

AD, FGFR 3
bicoronal or unicoronal
hearing loss
Brachydactyly, abn middle phalanges

21
Q

Saethre Chotzen

A 
AD, TWIST
coronal, metopic
low hairline, flat forehead
ptosis, syndactyly
renal disease
22
Q

Carpenter

A 
AR, RAB23
lambdoid, sagittal
MR
low ears
short webbed fingers, duplicated big toes
MS/GU/CV defects
23
Q

Antley-Bixler

A

AR, FGFR2
coronal, lambdoid
fused radiohumeral joint

Shit I forget (5 decks)

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