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Clinical Radiology 2A > Syndromes > Flashcards

Syndromes Flashcards

(100 cards)

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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
Erdheim-Chester
Cystic lung disease Interstitial oedema Cardiomegaly Hairy kidneys Retroperitoneal fibrosis Exophthalmus Diabetes insipidus “Dural mass”
26
Felty
Rheumatoid arthritis Splenomegaly Neutropenia
27
Gardner
Familial adenopolyposis Osteoma Supranumery teeth Papillary thyroid cancer Desmoid tumours of the mesentry Ampullary carcinoma
28
Gaucher
Erlenmeyer flask deformity H-shaped vertebrae Osteonecrosis Hepatosplenomegaly Anaemia
29
Gradenigo
Abducens nerve palsy Oitis media Petrous apicitis Retro-orbital pin
30
Granulomatosis with polyangitis
Cavitating lung lesions Necrotising glomerulonephritis Hypertrophic pachymeningitis CNS vasculitis
31
Haemochromotosis
Hooked osteophytes Chondrocalcinosis Hepatomegaly Iron overload cardiomyopathy Diabetes Hypopituitarism
32
Heyde
Gastrointestinal haemorrhage Aortic stenosis
33
Holt-Oram
ASD, VSD Aortic coarctation Radial ray anomalies
34
Joubert
Cerebellar vermal agenesis Multicystic dysplastic kidneys Hepatic fibrosis
35
Kartagener
Situs inversus Bronchiectasis Sinusitis +/- polyposis Infertility
36
Kallman
Hypogonadotrophic hypogonadism Anosmia Renal agenesis Sensorineural deafness
37
Kawasaki
Coronary artery aneurysms Myocarditis
38
Klinefelter
Gynaecomastia, breast cancer Germ cell tumours, small testicles Tall
39
Klippel-Feil
Cervical vertebral fusion Sprengel shoulder deformity
40
Klippel-Trenauney
Port-wine naevi Bone/soft tissue hypertrophy Venous malformations Marginal vein of Servelle
41
Gorlin
Multiple odontogenic keratocysts Basal cell carcinoma Medulloblastoma Cardiac fibroma Ovarian fibroma
42
Leriche
Complete occlusion of the aorta Buttock claudication Absence of femoral pulses Impotence
43
Li Fraumeni
Sarcomas CNS tumours (choroid plexus) Breast cancer Adrenal cortical carcinoma
44
Loffler
Blood eosinophilia Restrictive cardiomyopathy Fleeting pulmonary opacification
45
Hereditary non-polyposis colon cancer | (Lynch)
Gastric, small bowel, colorectal, hepatobiliary, pancreatic, urothelial, prostate, ovarian and endometrial cancers and glioma
46
Lemierre
Thrombophlebitis of the internal jugular vein Oropharyngeal infection
47
Maffuci
Multiple enchondromas Haemoangiomas Risk of chondrosarcoma
48
Mazabraud
Polyostotic fibrous dysplasia Soft tissue myxomas
49
May-Thurner
Compression of the left common iliac vein against the lumbar vertebrae by the right common iliac artery +/- DVT
50
McCune Albright
Polyostotic fibrous dysplasia Cafe au lait spots Precocious puberty
51
McKittrick-Wheelock
Villous adenoma Diarrhoea Fluid and electrolyte depletion
52
Marfan
Aortic/ mitral regurgitation Aortic dissection Pectus excavatum Atlantoaxial subluxation Posterior vertebral body scalloping Moyamoya
53
Meigs
Ovarian fibroma Ascites Pleural effusion
54
Meckel Gruber
Renal cystic dysplasia Occipital encephalocoele/ holoproencephaly Polydactyly
55
Menetrier
Gastritis with sparing of antrum Achlorhydria Hypoproteinaemia Oedema
56
Mirizzi
Impacted cystic duct stone with hepatic duct obstruction
57
Bouveret
Gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum
58
Mondor
Thrombosed vein in the breast
59
Morquio
Dwarfism Atlantoaxial subluxation Os odontoideum Anterior central vertebral body beaking
60
Hurler
Anterior inferior vertebral body beaking Macrocephaly J-shaped sella Atlantoaxial subluxation
61
MEN 1
Pituitary adenoma Pancreatic endocrine tumours Parathyroid proliferative disease
62
MEN 2a
Phaeochromocytoma Medullary thyroid cancer Parathyroid hyperplasia Renal calculi
63
MEN 2b
Phaeochromocytoma Medullary thyroid cancer Mucosal neuroma/ ganglioneuroma Marfanoid body habitus
64
Neurofibromatosis type 1
Cafe au lait spots Axillary/ inguinal freckling Neurofibromas Lisch nodules Sphenoid wing dysplasia Optic nerve glioma Wilms, AML, phaeochromocytoma Posterior body scalloping
65
Neurofibromatosis type 2
Multiple schwannomas, meningiomas and ependymomas
66
Nutcracker
Compression of the left renal vein between the SMA and aorta
67
Noonan
Congenital pulmonary stenosis PDA Hypertrophic cardiomyopathy Cystic hygroma
68
Ollier
Multiple enchondromas
69
Hereditary haemorrhagic telangiectasia | (Osler-Weber-Rendu)
Telangiectasia of skin/ oral cavity AVMs High output cardiac failure Portal hypertension
70
Ovarian hyperstimulation
Enlarged ovaries Ascites Pleural effusion
71
Paget-Schroetter
Thrombosis of the axillary/ subclavian vein
72
Parsonage-Turner
Sudden onset pain and weakness in muscles of two or more nerve distributions
73
Peutz-Jeghers
Hamartomatous polyps Mucocutaneous melanin pigmentation in mouth, fingers and toes Increased risk of GI and extra-intestinal malignancies
74
Paranaud
Upward gaze palsy Pupillary near-light dissociation Nystagmus
75
Plummer-Vinson
Oesophageal web Dysphagia Iron-deficiency anaemia
76
POEM
Polyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy
77
Polyarteritis nodosa
Micro-aneurysms Hep B and C
78
Poland
Aplasia of pectoralis major Upper limb abnormalities Brachysyndactyly
79
Potter
Pulmonary hypoplasia Oligohydramnios Twisted (wrinkly) skin Twisted face Extremity deformities Renal agenesis
80
Prune belly
Bilateral hydroureteronephrosis Renal dysplasia Anterior abdominal wall underdevelopment Bilateral undescended testes
81
Scheuermann
Thoracic kyphosis \> 40 Thoracolumbar kyphosis \> 30 Wedging of at least 3 adjacent vertebral bodies Schmorl nodes Limbus vertebrae Scoliosis Spondylolisthesis
82
Scimitar
Pulmonary hypoplasia Partial anomalous pulmonary venous return
83
Shwachman-Diamond
Pancreatic insufficiency (pancreatic lipomatosis) Metaphyseal chondrodysplasia Bone marrow hypoplasia
84
Singding Larson
Chronic traction of the proximal patellar tendon (associated with cerebral palsy)
85
Sturge-Weber
Seizures Tram-track gyriform calcification Trigeminal territory port-wine stain Unilateral weakness Retardation Glaucoma Epilepsy Sinus enlargement
86
Terson
Vitreous haemorrhage Subarachnoid haemorrhage
87
Tolosa-Hunt
Painful ophthalmoplegia Cavernous sinus inflammation
88
Trevor | (dysplasia epiphysealis hemimelica)
Osteochrondromas from the epiphyses
89
Trousseau
Migratory thrombophlebitis associated with malignancy
90
Tuberous sclerosis
Hamartomas Angiofibromas Mitral regurgitation Ash-leaf spots Rhabdomyomas Tubers (cortical/ subcortical) Mental retardation Angiomyolipoma
91
Turner
Bicuspid aortic valve Coarctation of the aorta Horseshoe kidney Streaky ovaries Pyloric stenosis Scoliosis Short 4th metacarpal Madelung deformity
92
Turcot
Intestinal polyposis Glioblastoma/ medulloblastoma
93
VACTERL
Vertebral anomalies Anorectal anomalies Cardiac anomalies/ cleft lip Tacheo-oEsophageal fistula/ atresia Renal anomalies/ radial ray anomalies Limb anomalies
94
Vernet
Motor paralysis of CN IX-XI Jugular foramen lesion
95
Von Hippel Lindau
Haemangioblastoma Increased risk of clear cell RCC Phaeochromocytoma Pancreatic lesions Endolymphatic sac tumours Liver/ renal cysts
96
WAGR
Wilms Aniridia Genitourinary anomalies Retardation
97
Wallenberg | (lateral medullary syndrome)
Vertigo, diplopia, multidirectional nystagmus Ipsilateral Horners syndrome Hiccups Pain of ipsilateral face then loss pain and temperature on contralateral side Ipsilateral bulbar weakness
98
Waterhause-Friderichsen
Adrenal haemorrhage Neisseria meningitidis
99
William
Craniofacial dysmorphism Short stature Supravalvular aortic stenosis Pulmonary stenosis Renal artery stenosis Hypercalcaemia
100
Zollinger-Ellison
Gastrinoma GORD Peptic ulcer MEN type 1

Clinical Radiology 2A (8 decks)

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