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Radiology > Syndromes > Flashcards

Syndromes Flashcards

1
Q

MEN I

A

1) Pituitary Gland Tumor (commonly prolactinoma)
2) Parathyroid Gland Tumor (commonly hyperplasia)
3) Pancreatic Islet Cell Tumor (commonly gastrinoma)

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2
Q

MEN IIA

A

1) Parathyroid gland hyperplasia
2) Paragangliomas
3) Medullary thyroid cancer

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3
Q

MEN IIB

A

1) Paragangliomas
2) Medullary thyroid cancer
3) Marfinoid habitus
4) Ganglioneuromas/Mucosal neuromas

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4
Q

Carney Complex

A 
1ry Features
- Blue nevi skin pigmentation
- Cardiac myxomas
2ry Features
- Extra-cardiac myxoma
- Pituitary adenoma
- Psammomatous melanotic schwannoma
- Testicular tumors
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5
Q

CREST Syndrome

A

1) Calcinosis of the skin
2) Raynaud’s phenomenon
3) Esophageal dysmotility
4) Sclerodactyly
- Localized thickening/tightening of fingers/toes)
5) Telangiectasia

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6
Q

Potter Sequence

A

Mom takes ACEi during pregnancy

  • -> Agenesis of fetal kidneys kidneys
  • -> Oligohydramnios
  • -> Pulmonary hypoplasia
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7
Q

Prune Belly Sequence

Eagle-Barrett Syndrome

A

1) Abdominal wall defect
2) Microcystis
3) Hydroureteronephrosis
4) Cryptorchidism

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8
Q

Beckwith-Wiedemann

A

1) Wilms tumors
2) Organomegaly
3) Hemihypertrophy
4) Macroglossia
5) Omphalocele

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9
Q

Sotos

A

1) Wilms tumors
2) Ugly faces
3) Mental retardation

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10
Q

WAGR

A

Wilms tumors
Aniridia
Growth retardation

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11
Q

Drash

A

1) Wilms tumor
2) Progressive glomerulonephritis
3) Pseudohermaphroditism

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12
Q

Caffey Disease

A

Kids have extreme periosteal rxn

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13
Q

VACTERL

A

1) Vertebral anomalies
2) Anorectal atresia/Imperforate anus
3) Cardiac anomalies
4) TrachoEsophageal fistula
5) Renal abnormalities
6) Limb deformities/radial ray anomalies

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14
Q

CHARGE Syndrome

A

1) Coloboma
2) Heart defect
3) Atresia of choanae
4) Retardation
5) GU abnormalities
6) Ear abnormalities

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15
Q

PHACES Syndrome

A

1) Posterior fossa abnormality
2) Hemangiomas
3) Arterial anomalies
4) Coarctation of aorta + other heart defects
5) Eye abnormalities
6) Subglottic hemangioma

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16
Q

Kasabach-Merrit Syndrome

A

1) Hemangioendothelioma
2) Hemolytic anemia
3) Consumptive coagulopathy

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17
Q

Goldenhar Syndrome

A

1) Hemifacial microsomia
2) Pulmonary aplasia
3) Rib abnormalities

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18
Q

Li Fraumeni Syndrome

A

Mutation of p53 –> predisposition for cancer (100% lifetime risk of Ca by age 70yo)

  • Sarcomas –> osteosarcoma, rhabdomyosarcoma
  • CNS –> gliomas, medulloblastoma, choroid plexus carcinoma
  • Leukemia
  • Breast ca (25% pts, young ~ 33yo)
  • Adrenal cortical carcinoma
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19
Q

Joubert Syndrome

A

1) Vermian aplasia (“molar tooth midbrain”)
2) hepatic fibrosis
3) Multicystic dysplastic kidneys

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20
Q

Alport Syndrome

A

1) Shrunken kidneys w/ cortical calcs
2) Hematuria
3) Multiple leiomyomas

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21
Q

BRCA 1/2

A 
General
- Tumor suppressor genes
- Breast Ca, Ovarian Ca (most common genetic mutation associated w/ these cancers)
- Prostate Ca
- Pancreatic Ca
BRCA 1 (chromosome 17)
- Dense breasts w/ triple -ve cancer
BRCA 2 (chromosome 13)
- Inc risk male breast cancer
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22
Q

Basal Cell Nevus Syndrome

Gorlin-Goltz

A

1) Multiple basal cell cancers
2) Craniofacial Abnormalities
- Odontogenic keratocysts
- Frontal bossing
- Macrocephaly
- Cleft lip
- Agenesis of CC
3) MSK
- Shortened 4th MCs
- Bifid ribs
4) Tumors
- Medulloblastoma
- Cardiac fibromas
- Fetal rhabdomyomas
- Calcified ovarian fibroma

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23
Q

Wallenberg Syndrome

A

Cause –> infarct to lateral medulla (PICA)
S/S
- Loss pain, temp sensation to contralateral body + ipsilateral face
- Ataxia
- CN IX/X palsy

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24
Q

Carcinoid Syndrome

A

Cause –> serotonin produced by carcinoid tumor when it metastasizes to liver
Lab Test –> Urine 5-HIAA (5-HydroxyIndoleAcetic Acid)
S/S
- Flushing
- Diarrhea
- Pain
- Right heart failure (degrades TV)

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25
Q

McCune-Albright Syndrome

A

Occurs in young girls

1) Polyostotic fibrous dysplasia
2) Cafe-au-lait spots
3) Precocious puberty

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26
Q

Mazabraud Syndrome

A

Occurs in middle-aged women

1) Polyostotic fibrous dysplasia
2) Myxomas
3) Inc risk malignant transformation

27
Q

Jaffe-Campanaci Syndrome

A

1) Multiple NOFs
2) Cafe-au-lait spots
3) Mental retardation
4) Hypogonadism
5) Cardiac malformations

28
Q

Ollier Disease

A

1) Multiple enchondromas

2) Slight inc risk chondrosarcoma

29
Q

Maffucci Syndrome

A

1) Multiple enchondromas
2) Soft tissue hemangiomas
3) Inc risk chondrosarcoma

30
Q

POEMS Syndrome

A

1) Polyradiculopathy
2) Organomegaly
3) Endocrinopathy
4) Monoclonal gammopathy w/ sclerotic bones
5) Skin changes
- Thicker skin
- More pigmentation

31
Q

Multiple Osteochondroma Syndromes

A

1) Multipple Hereditary Exostosis
- Inc risk of malignant transformation
2) Trevor-Fairbanks Disease (Dysplasia Epiphysealis Hemimelica)
- Dev’t of osteochondromas at epiphysis which point into jt
- Typically seen in ankles + knees

32
Q

Engelmann’s Disease

A

Bilateral, symmetric fusiform enlargemnt of long bones w/ sclerosis

33
Q

SAPHO Syndrome

A
  • Synovitis
  • Acne
  • Pustulosis
  • Hyperostosis
  • Osteitis
34
Q

Arthritis Syndromes

A

1) Felty Syndrome
- RA (for over 10yr)
- Splenomegaly
- Neutropenia
2) Caplan Syndrome
- RA
- Silicosis
3) Adult-Onset Still Disease
- RA affecting carpal/CMC jts
- High fevers
- Salmon coloured rash

35
Q

Currarino Triad

A

Form of caudal regression syndrome w/…

  • Anterior sacral meningocele
  • Anorectal malformation
  • Scimitar sacrum
36
Q

Nail Patella Syndrome

Fong Disease

A
  • Bilateral posterior iliac horns
  • Absent/hypoplastic patella
  • Hypoplasia of radial head
37
Q

Plummer-Venson Syndrome

A

1) Cervical esophageal web

2) Fe-deficiency anemia

38
Q

Hereditary Non-Polyposis Colorectal Cancer

Lynch Syndrome

A

Mutation of DNA Mismatch Repair Genes

1) Colorectal carcinoma
2) GU Cancers
- Endometrial
- Ovarian
- Prostate
- Urothelial tract
3) Small bowel cancer (duodenum > jejunum)
4) Gastric cancer
5) Hepatobiliary malignancies
6) Pancreatic malignancies
7) GBM

39
Q

Familial Adenomatous Polyposis Syndrome (FAP)

A

1) Gardner Syndrome
- Multiple colonic adenomatous polyps
- Extracolonic hyperplastic polyps (stomach, duodenum)
- Multiple osteomas
- Epidermoid cysts
- Desmoid tumors
- Fibromatosis
2) Turcot Syndrome
- Multiple colonic adenomatous polyps
- Extracolonic hyperplastic polyps (stomach, duodenum)
- CNS tumors (GBM, Medulloblastoma)

40
Q

Cowden Syndrome

A

1) Hamartomatous GI polyps
2) Mucocutaneous lesions
3) Glycogenic acanthosis
4) Thyroid adenomas, goiters (inc risk cancer)
5) Fibrocystic dz of breast (inc risk cancer)
6) Lhermitte-Duclos lesion

41
Q

Peutz-Jeghers Syndrome

A
  • STK11 gene mutation
    1) Hamartomatous polyps
    2) Mucocutaneous pigmentation (mouth, fingers, toes)
    3) Inc risk of…
  • Intussusception
  • GI tract adenoCa
  • Adenoma malignum
  • Breast ca
  • Pancreatic Ca
  • Ovarian, Uterine, Cervical Ca
  • Testicular Ca (Sertoli tumors)
  • Lung Ca
42
Q

Cronkhite-Canada Syndrome

A

1) Hamartomatous polyps (stomach, large bowel)
2) Clinical Triad
- Rash
- Alopecia
- Watery diarrhea

*** Not hereditary

43
Q

Juvenile Polyposis Syndrome

A

1) Hamartomatous polyps
2) Clinically rectal bleeding, obstruction, intus
3) Associated w/…
- Malrotation
- Meckel’s diverticulum
- Hydrocephalus
- Congenital heart dz

44
Q

Achondroplasia

A

Abnormal Fibroblast Growth Receptor

1) Rhizomelia
2) Large skull w/ frontal bossing
3) Short skull base w/ anteriorly displaced foramen magnum
- Inc risk hydro
4) Bullet-shaped vertebrae
5) Trident hands
6) Narrowing of interpedicular distance
7) Posterior scalloping of vertebral bodies
8) Gibbus deformity T/L-spine
9) Small, squared iliac bones w/ flattening of acetabuli

45
Q

Thanatophoric Dysplasia

A

Most common lethal dwarfism

1) Micromelia
2) “Telephone receiver” femurs
3) “Clover leaf” skull
4) Platyspondyly
5) Small iliac bones
6) Bell-shaped thorax w/ short ribs

46
Q

Pseudoachondroplasia

A

Same as achondroplasia but not present at birth + spares skull

47
Q

Pyknodysostosis

A

1) Osteopetrosis
2) Wormian bones
3) Acro-osteolysis
4) Wide angled mandible

48
Q

Osteogenesis Imperfecta

A

Collagen defect –> brittle bones

1) Lucent skull
2) Multiple fractures w/ callus
3) Wormian bones
4) Flat or beaked vertebrae

49
Q

Osteopetrosis

A

Osteoclastic dfect –> disorganized, weak sclerotic bone

1) “Bone-in-bone” appearance of vertebrae, carpals, tarsals
2) “Picture frame” vertebrae
3) Alternating bands of sclerosis parallel to growth plate
4) Diffusely sclerotic bones
5) Erlenmeyer flask deformity

50
Q

Klippel Feil

A

1) Congenital fusion of C-spine vertebrae
2) Cervical spine vertebrae tall, skinny
3) “Sprengel Deformity” –> high-riding scapula
4) Omovertebral Bone –> large osseous bar that connects scapula to C-spine

51
Q

Mucopolysaccharidoses

A

1) Oval shaped vertebrae w/ anterior beaking
2) Platyspondyly
3) Thoracolumbar kyphosis
4) “Canoe paddle ribs”
5) Iliac wings tall + flared
6) Wide MC/MT w/ proximal tapering

52
Q

Gaucher’s Disease

A

1) AVN of femoral heads
2) H-shaped vertebrae
3) Bone infarcts
4) Erlenmeyer flask deformity

53
Q

Neurofibromatosis Type 1

von Recklinghausen Disease

A

1) Cutaneous
- Cafe-au-lait spots
- Lymphostasis –> hyperemia –> local overgrowth
2) CNS
- Optic pathway gliomas
- 1ry sphenoid dysplasia w/ exophthalmos
- FASI in deep WM or basal ganglia
- Spinal astrocytoma
- Neurofibromas/Schannomas
3) Thoracic
- Lateral meningoceles
- Rib notching
4) Abdo/Pelvis
- Wilms tumors
- AML
- Pheochromocytoma
5) Vascular
- Aneurysms
- AVMS
- Renal artery stenosis
- Coarctation of aorta
6) MSK
- Dural ectasia w/ posterior vertebral scalloping
- Enlarged neural foramina
- Scoliosis
- Multiple NOFs
- Gracile bones
- Tibial pseudoarthrosis
- Rhabdomyosarcoma, Leiomyosarcoma

54
Q

Neurofibromatosis Type 2

A

1) Meningiomas (intracranial + spinal)
2) Spinal ependymomas
3) Schwannomas of vestibular/trigeminal/spinal nerves

55
Q

Tuberous Sclerosis

A

1) Cutaneous
- Facial angiofibromas
- Hypopigmented macules (“ash leaf spots”)
- Retinal hamartomas
2) CNS
- Cortical/Subcortical tubers
- Subependymal nodules
- SEGA
3) Thorax
- LAM
- Cardiac rhabdomyomas
- Thoracic duct aneurysm
- Aortic aneurysm
- Pulmonary artery aneurysm
4) Abdo/Pelvis
- Renal cysts
- Renal AMLs
- RCC
- Retroperitoneal LAM
5) LAM
- Bone cysts
- Scoliosis
- Hyperostosis of calvarium

56
Q

Von Hippel-Lindau Disease

A

1) CNS
- Cerebellar hemangioblastoma
- Spinal hemangioblastoma
- Retinal hemangioblastoma
- Endolymphatic sac tumor
- Choroid plexus papilloma
2) Abdo/Pelvis
- Pheochromocytomas
- Renal cysts, RCC
- Cysts, Islet cell tumors, Serous cystadenomas
- Cystadenomas epididymis/round ligament

57
Q

Sturge-Weber Syndrome

A

1) Collateral vessels in subarachnoid space
2) Facial capillary venous malformation in V1 distribution
3) Ipsilateral cerebral atrophy w/ calc
4) Ipsilateral gyral enhancement
5) Ipsilateral enlarged sinuses
6) Ipsilateral enlarged choroid plexus
7) Ipsilateral enlarged globe

58
Q

Waterhouse-Friderichsen Syndrome

A

Bilateral adrenal hemorrhage in context of fulminant Neiserria meningitis in paeds.

59
Q

Wolman Disease

A

Bilateral enlarged adrenals in kids.

60
Q

CLASH Syndrome

A 
Cryoglobulinema
Leukemia
RA
Sjogren
HepB

*Also associated w/ PAN

61
Q

Pendred Syndrome

A

1) Bilateral SNHL

20 Thyroid goiter

62
Q

Gradenigo Syndrome

A

1) Retro-orbital pain
2) Abducens nerve palsy
3) Petrous apicitis

63
Q

Ramsay-Hunt Syndrome

A

1) Vesicular eruption
2) Facial nerve palsy
3) Otic pain

64
Q

Samter Triad & Kounis-Zavras Syndrome

A

Samter Triad
1) Asthma
2) Nasal polyposis
3) Aspirin sensitivity
Kounis-Zavras Syndrome
- Coronary vasospasm in response to allergen
- Can be associated w/ aspirin sensitivity

Radiology (15 decks)

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