Syndromes

Question 1

Low hairline, webbed neck, failed cervical segmentation

Answer 1

Klippel-Feil Syndrome

Question 2

Rugger jersey spine, erlenmeyer flask deformity of distal femur/humerus, marble bone

Answer 2

Osteopetrosis; defective osteoclast carbonic anhydrase

Question 3

Anteromedial tibial bowing

Answer 3

Fibular hemimelia

Question 4

Anterolateral tibial bowing

Answer 4

Congenital pseudarthrosis of tibia; Neurofibromatosis

Question 5

Undescended scapula

Answer 5

Sprengel’s Deformity (scoliosis, Klippel-Feil)

Question 6

Ligamentous hyperlaxity, cervical kyphosis, abnormal facial features, multiple joint dislocations

Answer 6

Larsen’s syndrome

Question 7

Hitchhiker thumb, cauliflower ear, short limbs

Answer 7

Diastrophic dysplasia (AR, sulfate transporter)

Question 8

Dwarfism, retinal detachment, dumbbell femora

Answer 8

Kniest syndrome (AD, type 2 collagen)

Question 9

Dwarfism, hypoplasia of odontoid

Answer 9

Morquio syndrome (AR, mucopolysaccharidosis, accumulation of keratan sulfate)

Question 10

Wide set eyes, syndactyly, craniosynostosis

Answer 10

Apert syndrome; FGFR-2

Question 11

Syndrome with multiple enchondromas only

Answer 11

Ollier’s disease; (PTHrP, Indian hedgehog proteins), 30% risk of malignant transformation

Question 12

Multiple enchondromas and hemangiomas, calcified phleboliths

Answer 12

Maffucci’s syndrome, sporadic inheritance, 100% risk of malignant transformation

Question 13

Posteromedial tibial bowing

Answer 13

Physiologic; associated with calcaneovalgus foot deformity

Question 14

Congenital digit aplasia and syndactyly, absent chest wall musculature

Answer 14

Poland syndrome

Question 15

Vaughn-Jackson Syndrome

Answer 15

Rupture of hand digital extensor tendons (ulnar to medial) in RA

Question 16

Mannerfelt Syndrome

Answer 16

Rupture of FPL in carpal tunnel (over STT osteophytes) in RA

Question 17

Absent radius, hypoplastic thumb, cardiac abnormalities

Answer 17

Holt-Oram syndrome

Question 18

Most important factor for treatment of hypoplastic thumb

Answer 18

CMC joint stability

Question 19

Orthopedic manifestations of CMT (3)

Answer 19

Cavus foot (weak TA and PB), acetabular dysplasia, scoliosis

Question 20

EOG is associated w which syndrome

Answer 20

Hand Schuler Christian disease

Question 21

Increased urine phosphoethanolamine is diagnostic for

Answer 21

Hypophosphatasia (AR, TNSALP mutation)