Buzz Words Radiologic Findings

Question 1

Calcification of falx cerebri

Answer 1

Gorlin syndrome

Question 2

Calcification of basal ganglia

Answer 2

Tuberous sclerosis, Gorlin syndrome, Cockayne syndrome

Question 3

Calcification of dura (at tentorium and choroid attachments)

Answer 3

Papillon-Lefevre syndrome

Question 4

Calcification of hippocampus and amygdala

Answer 4

Lipoid proteinosis

Question 5

Tram-track calcification (due to vascular malformations in cortex)

Answer 5

Sturge-Weber syndrome

Question 6

Occipital exostoses (horns)

Answer 6

Occipital horn syndrome, Menkes disease

Question 7

Thickening of calvarium

Answer 7

Hidrotic ectodermal dysplasia (Clouston), tuberous sclerosis

Question 8

Radiolucent “punched out” osteolytic lesions often on skull

Answer 8

Multiple myeloma

Question 9

Solitary or multiple “punched out” lesions, +/- sclerotic rim (skull, mandible, humerus, femur, rib)

Answer 9

Eosinophilic granuloma (form of LCH)

Question 10

Wormian bones (additional intrasutural bones within skull)

Answer 10

Osteogenesis imperfecta, Menkes disease

Question 11

Dysplasia of sphenoid wing (skull bone)

Answer 11

Neurofibromatosis I

Question 12

Cranial and external auditory canal hyperostosis

Answer 12

Proteus syndrome

Question 13

Beaded ribs

Answer 13

Osteogenesis imperfecta

Question 14

Bifid (bifurcated) ribs

Answer 14

Gorlin syndrome

Question 15

Supernumerary vertebrae

Answer 15

Incontinentia pigmenti

Question 16

Osteopoikilosis (numerous sclerotic foci in long bones)

Answer 16

Buschke-Ollendorf syndrome

Question 17

Osteopathia striata (prominent vertical striations near epiphyses/metaphyses in long bones)

Answer 17

Goltz syndrome

Question 18

Melorheostosis (thickening of bony cortex like ‘dripping candle wax’)

Answer 18

Linear scleroderma

Question 19

Erlenmeyer flask deformity of femoral mid-shaft

Answer 19

Gaucher disease

Question 20

Cone-shaped epiphysis

Answer 20

Trichorhinophalangeal syndrome

Question 21

Stippled epiphyses or chondrodysplasia punctata (punctate calcifications within epiphyseal cartilage)

Answer 21

CHILD syndrome, Conradi-Hunermann syndrome

Question 22

Absent radii

Answer 22

Fanconi anemia

Question 23

Hypoplastic radii, ulnae, and/or thumbs

Answer 23

Rothmund-Thomson syndrome

Question 24

Radial head subluxation

Answer 24

Nail-patella syndrome

Question 25

Broad thumbs

Answer 25

Rubinstein-Taybi syndrome

Question 26

Hypoplastic thumbs

Answer 26

Rothmund-Thomson syndrome

Question 27

Short 4th metacarpal

Answer 27

Albright’s hereditary osteodystrophy

Question 28

Clinodactyly

Answer 28

Cornelia de Lange syndrome, Russell-Silver syndrome

Question 29

Thickened scapulae

Answer 29

Nail-patella syndrome

Question 30

Absent patella

Answer 30

Nail-patella syndrome

Question 31

Sclerotic focal bone lesions

Answer 31

POEMS syndrome

Question 32

Iliac exostoses (posterior iliac horns)

Answer 32

Nail-patella syndrome

Question 33

Dysostosis multiplex (characteristic skeletal abnormalities)

Answer 33

Mucopolysaccharidosis (MPS) disorders

Question 34

Resorption of distal phalanges

Answer 34

Scleroderma, Haim-Munk syndrome

Question 35

Tufting of terminal phalanges

Answer 35

Hidrotic ectodermal dysplasia (Clouston)