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Clinical Radiology 2A > Syndromes > Flashcards

Syndromes Flashcards

1
Q

Achondroplasia

A

Posterior vertebral body scalloping

Narrowed foramen magnum

Short pedicles

Decreased interpedicular distance as you go down the spine

Champagne pelvis

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2
Q

Acromegaly

A

Posterior vertebral body scalloping

Overgrowth

Carpal tunnel syndrome

Heal pad thickness > 25mm

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3
Q

Alagille

A

Paucity/ stenosis of bile ducts

Renal anomalies

Peripheral pulmonary artery stenosis

Coarctation

Hypoplasia of the posterior semicircular canal

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4
Q

Allgrove

A

Achalasia

Alacrima

ACTH sensitivity

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5
Q

Alport

A

Cortical nephrocalcinoma

Sensorineural hearing loss

Leiomyoma

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6
Q

Aperts

A

Brachycephaly

Fused fingers

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7
Q

Beckwith-Weidemann

A

Macroglossia

Hemihypertrophy

Hepatoblastoma

Wilms

Medullary sponge kidney

Omphalocele

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8
Q

Behcets

A

Oral and genital ulceration

Pulmonary artery aneurysm

Pericarditis

Occular manifestations

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9
Q

Birt-Hogg-Dube

A

Cystic lung disease and pneumothoraces

Fibrofolliculomas

Bilateral oncocytoma and chromophobe RCCs

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10
Q

Budd Chiari

A

Hepatic vein obstruction

Nut-meg liver

Caudate lobe hypertrophy

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11
Q

Carney’s triad

A

Pulmonary chondroma

Extra-adrenal paraganglioma

Gastro-intestinal stromal tumour

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12
Q

Carney complex

A

Facial/ buccal pigmentation

Pituitary adenoma

Cardiac and extra-cardiac myxomas

Breast fibroadenomas

Testicular tumours (Sertoli)

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13
Q

Caplan

A

Rheumatoid arthritis

Pulmonary fibrosis

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14
Q

Castleman

A

HIV

hypervascular lymph nodes

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15
Q

Cleidocranial dysostosis

A

Multiple wormian bones

Supranumery ribs/ teeth

Hemivertebrae

Erosion of lateral clavicles

Absent radius

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16
Q

Cowden

A

Hamartomatous polyps

Trichilemmomas

Breast and endometrial cancer

Follicular thyroid cancer

Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos)

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17
Q

Conn

A

Hypertension, hypokalaemia, increased aldosterone

Hyperfunctioning adrenal cortical adenoma (80%)

Adrenal hyperplasia (20%)

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18
Q

CHARGE

A

Coloboma/ cleft lip

Heart defects

Atresia choanae

Retarded growth

Genital hypoplasia

Ear abnormalities (sensorineural deafness)

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19
Q

Cronkite-canada

A

Hamartomatous polyps

Alopecia

Rash

Diarrhoea

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20
Q

Currarino

A

Anorectal malformation

Sacrococcygeal osseous defect

Presacral mass

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21
Q

Dressler

A

4-6 weeks post MI

Pleuritic chest pain

Fever

Pericardial effusion

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22
Q

DiGeorge

A

Tetralogy of Fallot

Cleft lip

Learning disabilities

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23
Q

Down

A

Prenatal calcified papillary muscle

Secundum ASD

Atrioventricular septal defect

Moyamoya syndrome

Hearing loss

Coeliac disease

Testicular microlithiasis

Prostatic utricle cyst

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24
Q

Ehler-Danlos

A

Kyphoscoliosis

Spondylolisthesis

Arterial dissection

Haemarthrosis

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25
Q

Erdheim-Chester

A

Cystic lung disease

Interstitial oedema

Cardiomegaly

Hairy kidneys

Retroperitoneal fibrosis

Exophthalmus

Diabetes insipidus

“Dural mass”

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26
Q

Felty

A

Rheumatoid arthritis

Splenomegaly

Neutropenia

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27
Q

Gardner

A

Familial adenopolyposis

Osteoma

Supranumery teeth

Papillary thyroid cancer

Desmoid tumours of the mesentry

Ampullary carcinoma

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28
Q

Gaucher

A

Erlenmeyer flask deformity

H-shaped vertebrae

Osteonecrosis

Hepatosplenomegaly

Anaemia

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29
Q

Gradenigo

A

Abducens nerve palsy

Oitis media

Petrous apicitis

Retro-orbital pin

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30
Q

Granulomatosis with polyangitis

A

Cavitating lung lesions

Necrotising glomerulonephritis

Hypertrophic pachymeningitis

CNS vasculitis

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31
Q

Haemochromotosis

A

Hooked osteophytes

Chondrocalcinosis

Hepatomegaly

Iron overload cardiomyopathy

Diabetes

Hypopituitarism

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32
Q

Heyde

A

Gastrointestinal haemorrhage

Aortic stenosis

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33
Q

Holt-Oram

A

ASD, VSD

Aortic coarctation

Radial ray anomalies

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34
Q

Joubert

A

Cerebellar vermal agenesis

Multicystic dysplastic kidneys

Hepatic fibrosis

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35
Q

Kartagener

A

Situs inversus

Bronchiectasis

Sinusitis +/- polyposis

Infertility

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36
Q

Kallman

A

Hypogonadotrophic hypogonadism

Anosmia

Renal agenesis

Sensorineural deafness

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37
Q

Kawasaki

A

Coronary artery aneurysms

Myocarditis

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38
Q

Klinefelter

A

Gynaecomastia, breast cancer

Germ cell tumours, small testicles

Tall

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39
Q

Klippel-Feil

A

Cervical vertebral fusion

Sprengel shoulder deformity

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40
Q

Klippel-Trenauney

A

Port-wine naevi

Bone/soft tissue hypertrophy

Venous malformations

Marginal vein of Servelle

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41
Q

Gorlin

A

Multiple odontogenic keratocysts

Basal cell carcinoma

Medulloblastoma

Cardiac fibroma

Ovarian fibroma

42
Q

Leriche

A

Complete occlusion of the aorta

Buttock claudication

Absence of femoral pulses

Impotence

43
Q

Li Fraumeni

A

Sarcomas

CNS tumours (choroid plexus)

Breast cancer

Adrenal cortical carcinoma

44
Q

Loffler

A

Blood eosinophilia

Restrictive cardiomyopathy

Fleeting pulmonary opacification

45
Q

Hereditary non-polyposis colon cancer

(Lynch)

A

Gastric, small bowel, colorectal, hepatobiliary, pancreatic, urothelial, prostate, ovarian and endometrial cancers and glioma

46
Q

Lemierre

A

Thrombophlebitis of the internal jugular vein

Oropharyngeal infection

47
Q

Maffuci

A

Multiple enchondromas

Haemoangiomas

Risk of chondrosarcoma

48
Q

Mazabraud

A

Polyostotic fibrous dysplasia

Soft tissue myxomas

49
Q

May-Thurner

A

Compression of the left common iliac vein against the lumbar vertebrae by the right common iliac artery +/- DVT

50
Q

McCune Albright

A

Polyostotic fibrous dysplasia

Cafe au lait spots

Precocious puberty

51
Q

McKittrick-Wheelock

A

Villous adenoma

Diarrhoea

Fluid and electrolyte depletion

52
Q

Marfan

A

Aortic/ mitral regurgitation

Aortic dissection

Pectus excavatum

Atlantoaxial subluxation

Posterior vertebral body scalloping

Moyamoya

53
Q

Meigs

A

Ovarian fibroma

Ascites

Pleural effusion

54
Q

Meckel Gruber

A

Renal cystic dysplasia

Occipital encephalocoele/ holoproencephaly

Polydactyly

55
Q

Menetrier

A

Gastritis with sparing of antrum

Achlorhydria

Hypoproteinaemia

Oedema

56
Q

Mirizzi

A

Impacted cystic duct stone with hepatic duct obstruction

57
Q

Bouveret

A

Gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum

58
Q

Mondor

A

Thrombosed vein in the breast

59
Q

Morquio

A

Dwarfism

Atlantoaxial subluxation

Os odontoideum

Anterior central vertebral body beaking

60
Q

Hurler

A

Anterior inferior vertebral body beaking

Macrocephaly

J-shaped sella

Atlantoaxial subluxation

61
Q

MEN 1

A

Pituitary adenoma

Pancreatic endocrine tumours

Parathyroid proliferative disease

62
Q

MEN 2a

A

Phaeochromocytoma

Medullary thyroid cancer

Parathyroid hyperplasia

Renal calculi

63
Q

MEN 2b

A

Phaeochromocytoma

Medullary thyroid cancer

Mucosal neuroma/ ganglioneuroma

Marfanoid body habitus

64
Q

Neurofibromatosis type 1

A

Cafe au lait spots

Axillary/ inguinal freckling

Neurofibromas

Lisch nodules

Sphenoid wing dysplasia

Optic nerve glioma

Wilms, AML, phaeochromocytoma

Posterior body scalloping

65
Q

Neurofibromatosis type 2

A

Multiple schwannomas, meningiomas and ependymomas

66
Q

Nutcracker

A

Compression of the left renal vein between the SMA and aorta

67
Q

Noonan

A

Congenital pulmonary stenosis

PDA

Hypertrophic cardiomyopathy

Cystic hygroma

68
Q

Ollier

A

Multiple enchondromas

69
Q

Hereditary haemorrhagic telangiectasia

(Osler-Weber-Rendu)

A

Telangiectasia of skin/ oral cavity

AVMs

High output cardiac failure

Portal hypertension

70
Q

Ovarian hyperstimulation

A

Enlarged ovaries

Ascites

Pleural effusion

71
Q

Paget-Schroetter

A

Thrombosis of the axillary/ subclavian vein

72
Q

Parsonage-Turner

A

Sudden onset pain and weakness in muscles of two or more nerve distributions

73
Q

Peutz-Jeghers

A

Hamartomatous polyps

Mucocutaneous melanin pigmentation in mouth, fingers and toes

Increased risk of GI and extra-intestinal malignancies

74
Q

Paranaud

A

Upward gaze palsy

Pupillary near-light dissociation

Nystagmus

75
Q

Plummer-Vinson

A

Oesophageal web

Dysphagia

Iron-deficiency anaemia

76
Q

POEM

A

Polyneuropathy

Organomegaly

Endocrinopathy

Monoclonal gammopathy

77
Q

Polyarteritis nodosa

A

Micro-aneurysms

Hep B and C

78
Q

Poland

A

Aplasia of pectoralis major

Upper limb abnormalities

Brachysyndactyly

79
Q

Potter

A

Pulmonary hypoplasia

Oligohydramnios

Twisted (wrinkly) skin

Twisted face

Extremity deformities

Renal agenesis

80
Q

Prune belly

A

Bilateral hydroureteronephrosis

Renal dysplasia

Anterior abdominal wall underdevelopment

Bilateral undescended testes

81
Q

Scheuermann

A

Thoracic kyphosis > 40

Thoracolumbar kyphosis > 30

Wedging of at least 3 adjacent vertebral bodies

Schmorl nodes

Limbus vertebrae

Scoliosis

Spondylolisthesis

82
Q

Scimitar

A

Pulmonary hypoplasia

Partial anomalous pulmonary venous return

83
Q

Shwachman-Diamond

A

Pancreatic insufficiency (pancreatic lipomatosis)

Metaphyseal chondrodysplasia

Bone marrow hypoplasia

84
Q

Singding Larson

A

Chronic traction of the proximal patellar tendon

(associated with cerebral palsy)

85
Q

Sturge-Weber

A

Seizures

Tram-track gyriform calcification

Trigeminal territory port-wine stain

Unilateral weakness

Retardation

Glaucoma

Epilepsy

Sinus enlargement

86
Q

Terson

A

Vitreous haemorrhage

Subarachnoid haemorrhage

87
Q

Tolosa-Hunt

A

Painful ophthalmoplegia

Cavernous sinus inflammation

88
Q

Trevor

(dysplasia epiphysealis hemimelica)

A

Osteochrondromas from the epiphyses

89
Q

Trousseau

A

Migratory thrombophlebitis associated with malignancy

90
Q

Tuberous sclerosis

A

Hamartomas

Angiofibromas

Mitral regurgitation

Ash-leaf spots

Rhabdomyomas

Tubers (cortical/ subcortical)

Mental retardation

Angiomyolipoma

91
Q

Turner

A

Bicuspid aortic valve

Coarctation of the aorta

Horseshoe kidney

Streaky ovaries

Pyloric stenosis

Scoliosis

Short 4th metacarpal

Madelung deformity

92
Q

Turcot

A

Intestinal polyposis

Glioblastoma/ medulloblastoma

93
Q

VACTERL

A

Vertebral anomalies

Anorectal anomalies

Cardiac anomalies/ cleft lip

Tacheo-oEsophageal fistula/ atresia

Renal anomalies/ radial ray anomalies

Limb anomalies

94
Q

Vernet

A

Motor paralysis of CN IX-XI

Jugular foramen lesion

95
Q

Von Hippel Lindau

A

Haemangioblastoma

Increased risk of clear cell RCC

Phaeochromocytoma

Pancreatic lesions

Endolymphatic sac tumours

Liver/ renal cysts

96
Q

WAGR

A

Wilms

Aniridia

Genitourinary anomalies

Retardation

97
Q

Wallenberg

(lateral medullary syndrome)

A

Vertigo, diplopia, multidirectional nystagmus

Ipsilateral Horners syndrome

Hiccups

Pain of ipsilateral face then loss pain and temperature on contralateral side

Ipsilateral bulbar weakness

98
Q

Waterhause-Friderichsen

A

Adrenal haemorrhage

Neisseria meningitidis

99
Q

William

A

Craniofacial dysmorphism

Short stature

Supravalvular aortic stenosis

Pulmonary stenosis

Renal artery stenosis

Hypercalcaemia

100
Q

Zollinger-Ellison

A

Gastrinoma

GORD

Peptic ulcer

MEN type 1

Clinical Radiology 2A (8 decks)

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