Radiologic Findings genoderms

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 Langerhan’s cell histiocytosis)

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 can 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 epiphyses?

Answer 20

Trichorhinophalangeal syndrome

Question 21

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

Answer 21

CHILD syndrome, Conradi-Hundermann syndrome

Question 22

Absent radii?

Answer 22

Fanconi anemia

Question 23

Hypoplastic radii, ulnae, and/or thumbs?

Answer 23

Rothmund-Thompson 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-Thompson syndrome

Question 27

Short 4th metacarpal?

Answer 27

Albright's hereditary osteodystrophy

Question 28

Clinodactyly?

Answer 28

Cornelia de Lange syndrome, Russel-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)