Woodward Skeletal

Question 1

Failure cartilaginous matrix formation

Answer 1

Achondrogenesis

Question 2

Achondrogenesis types and inheritance

Answer 2

1A, 1B AutoR
2 AutoD (COL2A1)

Question 3

Rhizomelia, large head, frontal bossing, midface hypoplasia, brachydactyly

Answer 3

Achondroplasia

Question 4

Achondroplasia inheritance

Answer 4

AutoD (80% sporadic)

Question 5

Amelia inheritance?

Answer 5

AutoR mostly

Question 6

Rhizomelia esp humeri

Answer 6

Atelosteogenesis

Question 7

Bowed limbs and hypoplastic scapulae

Answer 7

Campomelic dysplasia

Question 8

Campomelic dysplasia inheritance

Answer 8

Haploinsufficiiency of SOX9 = sporadic AutoD

Question 9

Stippled epiphyses, maxillonasal hypoplasia

Answer 9

Chondrodysplasia punctata

Question 10

Chondrodysplasia punctata etiologies?

Answer 10

Multiple genetic etiologies AutoR and X-linked. Also with some SLE, vitamin K deficiency, and Warfarin embryopathy (6-9 weeks) esp if coupled with nasal hypoplasia
Congenital rubella

Question 11

Wide cranial sutures, absent clavicles, dental abnormalities

Answer 11

Cleidocranial dysplasia

Question 12

Cleidocranial dysplasia

Answer 12

AutoD

Question 13

Blue sclera + bones bad. Anatomy “seen too well”

Answer 13

OI

Question 14

OI types and mutations

Answer 14

COL1A1 or COL1A2 in majority of them

Most of them AutoD

Question 15

Short tubular bones, short ribs, constricted thorax, visceral anomalies, etc

Answer 15

Short rib-polydactyly

Question 16

Short rib polydactyly inheritance

Answer 16

AutoR

Question 17

Long bones w/ prominent bowing, micromelia

Answer 17

TD type 1

Question 18

Cloverleaf skull

Answer 18

TD type 2

Question 19

Outcome TD1 or TD2

Answer 19

Lethal