Boards Syndromes

Question 1

FGF 23

Answer 1

X linked phosphatemic rickets and osteogenic osteomalacia `

Question 2

FGFR3

Answer 2

achondroplasia

autosomal dominant
G380R

Question 3

Absent dystrophin (inheritance?)

Answer 3

Duchenne muscular dystrophy

X linked recessive

Question 4

Proton pump mutation

Answer 4

Osteopetrosis

Question 5

Chloride channel CLCN7 mutation or carbonic anhydrase mutation

Answer 5

Osteopetrosis (12% and 5% respectively)

Question 6

PHEX gene

Answer 6

familial hypophosphatemic rickets

Question 7

Morquio syndrome genetics and pathophysiology

Answer 7

Type A - galactosamine 6 sulfate sulphatase def

Type B beta galactosidase def

AR and accumulation of keratin sulfate in urine

Dwarfism, no mental retardation

Question 8

Hurler syndrome genetics and pathophysiology

Answer 8

Alpha L iduronidase def

AR and dermatan sulfate in urine

Dwarfism and MR

Question 9

San Flippo disease

Answer 9

multiple enzyme def

AR and heparin sulfate in urine

Question 10

Hunter syndrome

Answer 10

sulphoiduronate sulphatase def

X linked and dermatan/heparan sulfate in urine

Question 11

PITX1-TBX4

Answer 11

clubfoot (talipes equinovarus)

Question 12

COMP gene

Answer 12

multiple epiphyseal dysplasia

Question 13

RTX protein

Answer 13

Kingella kingae

Question 14

Inheritance of osteopoikilosis

Answer 14

autosomal dominant

hundreds of bone islands seen throughout skeleton, often centered around joints.

Question 15

Inheritance of Hemophilia A (Factor VIII def)

Answer 15

X linked recessive

Question 16

SLC26A2 gene mutation

Answer 16

diastrophic dysplasia

Question 17

Mutation in gene that encodes filamin B

Answer 17

Larsen syndrome

bilateral dislocation of knees and will have AA instability –> get cervical radiographs