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Syndromes Flashcards

1
Q

Susac

A

Cochlea, retina, brain involvement

Microinfarcts

Central corpus callosum “snowball”

Looks like MS

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2
Q

Holt Oram

A

Absent thumb, ASD

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3
Q

Osteogenesis Imperfecta

A

Lucent skull

Blue sclera

Deafness

Wormian bones

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4
Q

Pyknodysostosis

A

Osteosclerosis

Wormian bones

Acro-octeolysis

Dwarfism

Wide-angled mandible

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5
Q

Parinaud

A

Compression of tectal plate → vertical gaze palsy

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6
Q

Mazabraud

A

Polyostotic fibrous dysplasia + soft tissue myxomas

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7
Q

McCune-Albright

A

Polyostotic fibrous dysplasia + cafe au lait spots + precocious puberty

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8
Q

Jaffe-Campanacci

A

Nonossifying fibromas (NOF) + cafe au lait spots

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9
Q

Caffey

A

< 5 yrs, mandible, ribs, clavicle, long bones hyperostosis

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10
Q

Currarino

A

Sacral dysgenesis

Presacral teratoma

Anorectal malformations

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11
Q

Gardner

A

FAP, familial adenomatous polyposis

Facial osteoma

Abdominal desmoid

Papillary Thyroid cancer

Hepatoblastoma

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12
Q

PHACES

A

Posterior fossa (Dandy Walker)

Hemangiomas

Arterial Anomalies

Coarctation, Cardiac defects

Eye abnormalities

Subglottic hemangioma

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13
Q

Kleinfelters

A

Breast cancer

Seminomas

Gynecomastia

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14
Q

VACTERL

A

Vertebral anomalies

Anal imperforate

Cardiac

TE fistula

Renal

Limb (absent radius)

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15
Q

Swachman-Diamond

A

Fatty replacement of pancreas

Dwarfism

Diarrhea

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16
Q

Dorsal Pancreatic Agenesis

A

Pancreas without a tail

Polysplenia

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17
Q

Potter Sequence

A

No kidneys → no pee → no fluid → hypoplastic lungs

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18
Q

Alagille

A

Hereditary cholestasis from paucity of bile ducts

DDx in atresia, biopsy before Kasai procedure

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19
Q

Prune Belly (Eagle Barrett)

A

Poor abdominal musculature

Hydroureteronephrosis

Cryptorchidism

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20
Q

Beckwith+Wiedemann

A

Medullary sponge kidney, Wilms, Hepatoblastoma, Omphalocele, Hemihypertrophy, cardiac

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21
Q

Sotos

A

Macrocephaly, retarded

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22
Q

WAGR

A

Wilms, aniridia, genital, growth retardation

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23
Q

Deny-Drash

A

Wilms, Pseudohermaphroditism, progressive glomerulonephritis

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24
Q

Peutz-Jegher

A

Sertoli cell tumors

Small bowel hamartomas

Mucocutaneous pigmentation

GI and GYN cancers

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25
Q

Mucopolysaccharidoses

A

Oval-shaped vertebral bodies (bullet) with anterior beak

Canoe -paddle ribs

Hand x-ray shows wide metacarpal bones with proximal tapering

26
Q

Gauchers

A

AVN femoral heads

H-shaped vertebra

Bone infarcts

Erlenmeyer flask-shaped femurs

Splenomegaly

27
Q

Proximal Focal Femoral Deficiency

A

Absent/hypoplastic proximal femur mimicking DDH and leading to varus deformity

28
Q

CHARGE

A

Coloboma

Heart defect

Atresia choanae

Restricted growth and development

Genital abnormality

Ear abnormality

29
Q

Carney’s Triad

A

Chondroma

Extra adrenal pheos

GIST

30
Q

Carney Complex

A

Cardiac myxoma

Skin pigmentation

+ Lots of other shit

31
Q

Turcots

A

FAP

Gliomas and Medulloblastomas

32
Q

HNPCC (Lynch)

A

Cancer of everything

33
Q

Cowden

A

Breast Ca

Thyroid Ca

Lhermitte-Duclos

34
Q

Ehlers Danlos

A

Medullary sponge kidney

Hutch diverticulum

35
Q

Zinner

A

Renal agenesis

Ipsilateral seminal vesicle cyst

36
Q

Turner’s

A

Nuchal hygroma

37
Q

Wolman

A

Bilateral enlarged calcified adrenals - fatal

38
Q

Hermansky-Pudlak

A

Lungs are fucked

39
Q

DiGeorge

A

Tetralogy of Fallot

40
Q

Parry Romberg

A

facial atrophy

41
Q

Apert

A

Brachycephaly

syndactyly

42
Q

Madelung Deformity

A

radius too long, bows radially

43
Q

Nail-Patella

A

hypoplastic or absent patella, hypoplastic radial

head/capitellum, posterior iliac horns, protuberant anterior iliac spines

44
Q

Macrodystrophia Lipomatosa

A

localized gigantism

45
Q

Pachydermoperiostosis

A

primary HOA without lung dz

46
Q

Poems

A

Myeloma with sclerotic mets

47
Q

Felty

A

RA > 10 yrs.

Splenomegaly

Neutropenia

48
Q

Caplan

A

RA + pneumoconiosis

49
Q

Engelmann

A

Bilateral symmetric long bone sclerosis and bony enlargement which is hot on bone scan

Can cause optic nerve compression

50
Q

Hurst (acute hemorrhagic leukoencephalitis)

A

Fulminant form of ADEM w/ brain swelling and death

51
Q

Devics

A

Transverse myelitis

Optic neuritis

52
Q

Marburg Variant

A

Childhood MS variant that has a fetal prodrome and leads to rapid death

53
Q

SUBCORTICAL ARTERIOSCLEROTIC ENCEPHALOPATHY (BINSWANGER)

A

Multi-infarct dementia that only involves the white matter

Secondary to hypertension

54
Q

CADASIL (CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY with SUBCORTICAL INFARCTS and LEUKOENCEPHALOPATHY)

A

Presents w/ migraines

Involves frontal and temporal lobes

55
Q

GORLIN (basal cell nevus syndrome)

A

Medulloblastoma with Dural calcifications basal cell skin cancer

56
Q

Crouzons

A

Brachycephaly

Maxilla and mandible hypoplasia

57
Q

Cleidocranial Dysostosis

A

Brachycephaly

Wormian bones

Absent clavicles

58
Q

Grisels

A

Torticollis w/ atlantoaxial joint inflammation seen in H&N surgery or retropharyngeal abscess

59
Q

Coats

A

Retinal telangiectasia which can lead to detachment (V). NO calcifications

60
Q

PHEMISTER TRIAD (TB arthropathy)

A

Juxtarticular osteopenia/osteoporosis

peripheral osseous erosions

gradual narrowing of joint space

Syndromes (1 decks)

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