Chapter 64

Question 1

Shortening of middle segments

Answer 1

Mesomelia

Question 2

Shortening of entire extremity

Answer 2

Micromelia

Question 3

Shortening of distal segments

Answer 3

Acromelia

Question 4

Most common lethal

Answer 4

Thanatophoric

Question 5

Lethal short limb dwarfism
Clover leaf skull
Ventriculomegaly
Protuberant abdomen

Answer 5

Thanatophoric

Question 6

Most common nonlethal

Answer 6

Achondroplasia

Question 7

Short squat bones

Answer 7

Achondroplasia

Question 8

Defect in cartilage of epiphyseal bones

Answer 8

Achondroplasia

Question 9

Advanced paternal age risk

Answer 9

Achondroplasia

Question 10

When do we see femoral or humoral length fall behind SD in achondroplasia

Answer 10

After 22 weeks

Question 11

Extremities notably shortened
Normal trunk
Enlargement of head

Answer 11

Heterozygous achondroplasia

Question 12

Short limb dwarfism affecting fetuses of achondroplastic parents

Answer 12

Homozygous achondroplasia

Question 13

Cartilage malformation

Abnormal bone and hypomineralization

Answer 13

Achondrogenesis

Question 14

Which type of achondrogenesis is more severe

Answer 14

Type 1- Parenti Fraccaro

Question 15

Flipper like appendages
Lethal
Long bone and trunk shortening

Answer 15

Achondrogenesis

Question 16

Disorder of collagen production

Brittle bones

Answer 16

Osteogenesis imperfecta

Question 17

Hypomineralization
Multiple fractures
Bell shaped thorax
Compression of chest

Answer 17

Osteogenesis imperfecta

Question 18

Hypomineralization caused by alkaline phosphatase deficiency

Answer 18

Hypophosphatasia

Question 19

Similar to OI type 2 and achondrogenesis

Answer 19

Hypophosphatasia

Question 20

Bowed or fractured bones
Poorly ossified cranium
Ribbon like bowed limbs

Answer 20

Hypophosphatasia

Question 21

Hitchhiker thumb
Scoliosis
Talipes

Answer 21

Diastrophic dysplasia

Question 22

Bent or bowing or long bones

Lethal and rare

Answer 22

Camptomelic dysplasia

Question 23

Rare phocomelia and facial anomalies

Answer 23

Roberts syndrome

Question 24

Survivors are growth restricted with severe mental retardation

Answer 24

Roberts syndrome

Question 25

Seal like extremities Bilateral cleft lip Hypertelorism Microcephaly

Answer 25

Roberts syndrome

Question 26

Short ribs, limbs and polydactyly

Answer 26

Short rib polydactyly syndrome

Question 27

Narrow thorax and ribs Polydactyly Micromelia Midline facial cleft

Answer 27

Short rib polydactyly syndrome

Question 28

Asphyxiating thoracic dysplasia

Answer 28

Jeunes syndrome

Question 29

Small thorax Rhizomelia Renal dysplasia

Answer 29

Jeunes syndrome

Question 30

Increased frequency in Amish

Answer 30

Ellis van creveld syndrome

Question 31

Limb shortening Narrow thorax Polydactyly Cardiac defects

Answer 31

Ellis van creveld syndrome

Question 32

Malformation of caudal end of neural tube

Answer 32

Caudal regression syndrome

Question 33

Sacral Agenesis Talipes Contractures or decreased movement

Answer 33

Caudal regression syndrome

Question 34

Mermaid syndrome

Answer 34

Sirenomelia

Question 35

Extreme for of caudal regression

Answer 35

Sirenomelia

Question 36

Fusion of lower extremities Bilateral renal Agenesis Single umbilical artery Oligo

Answer 36

Sirenomelia

Question 37

Severe contractures of extremities | Abnormal innervation

Answer 37

Athrogryposis multiplex congenita

Question 38

Rigid extremities Flexed arms Hyperextended knee Clenched hands

Answer 38

Athrogryposis

Question 39

Joint webbing and multiple contractures

Answer 39

Lethal multiple pterygium syndrome

Question 40

Limb contractures Cystic hygroma Webbing of joints

Answer 40

Pterygium

Question 41

``` Clenched hands Rocker bottom feet Talipes Joint contractures Similar to trisomy 18 ```

Answer 41

Pena Shokeir syndrome

Question 42

Absence of one or more extremities

Answer 42

Amelia

Question 43

Webbing or fusion of digits

Answer 43

Syndactyly

Question 44

Split hand | Lobster claw

Answer 44

Ectrodactyly

Question 45

More than 5 digits

Answer 45

Polydactyly

Question 46

Overlapping digits

Answer 46

Clinodactlyly

Question 47

Persistent abnormal inversion of the foot perpendicular to the lower leg

Answer 47

Club foot or talipes

Question 48

Prominent heel and convex sole

Answer 48

Rocker bottom feet

Question 49

Complex lesions with or without calcifications Can become large Polyhydramnios

Answer 49

Teratoma

Question 50

Shortening of prox segments

Answer 50

Rhizomelia