MSK

Question 1

What are the two tissues that compose the fetal skeleton?

Answer 1

bone and cartilage

Question 2

What are the three types of tissue that makeup the bones and cartilage

Answer 2

osteoblasts, osteroclasts, chondrocytes

Question 3

When do limb buds begin to develop

Answer 3

during week 4 as mesenchymal cells are covered by ectoderm

Question 4

what are the 4 steps of skeletogenesis

Answer 4

patterning, organgenesis, growth, homeostasis

Question 5

What is skeletal dysplasia

Answer 5

a group of disorders that affect the musculoskeletal system. it appears as the presence of bowing, fractures, and angulations

Question 6

What is rhizomelia

Answer 6

shortening of the proximal segment (femur/humerus)

Question 7

What is mesomelia

Answer 7

shortening of the middle segment (radius,ulna/tibia,fibula)

Question 8

What is acromelia

Answer 8

shortening of the distal segment (hands/feet)

Question 9

What is micromelia

Answer 9

shortening of the entire limb

Question 10

What is the most common indicator of a lethal anomaly

Answer 10

a short and narrow thorax

Question 11

nearly 60% of lethal skeletal dysplasias are what types?

Answer 11

thanatophoric or achondrogenesis

Question 12

66% of lethal skeletal dysplasias are what types?

Answer 12

thanatophoric, achondrogenesis, or osteogenesis imperfecta II

Question 13

What is the most common lethal dysplasia? What is it characterized by?

Answer 13

thanatophoric dysplasia: rhizomelia, narrow thorax, large head with prominent forehead, cloverleaf skull/micromelia

Question 14

What is polydactyly and what are the two types?

Answer 14

more than 5 digits. Postaxial- on ulnar/fibular/lateral side. Preaxial- on radial/tibial/medial side

Question 15

What is syndactyly

Answer 15

“webbed” soft tissue or bony fusion of adjacent digits

Question 16

What is clinodactyly

Answer 16

consists of deviation or curving inward of a finger, usually the pinky

Question 17

What is the most common spinal abnormality?

Answer 17

platyspondyly

Question 18

What are kyphosis and scoliosis

Answer 18

curvature of the spine

Question 19

How are skeletal dysplasias diagnosed

Answer 19

1. incidentally found during routine ultrasound. 2. patient who delivered baby with skeletal dysplasia wants antenatal assessment for next pregnancy

Question 20

What are the two most common prognoses of skeletal dysplasias?

Answer 20

many are lethal. other cause cognitive delay and challenges

Question 21

What is the most common Non-lethal skeletal dysplasia? it is autosomal dominant.

Answer 21

achondroplasia

Question 22

what is the second most common Lethal skeletal dysplasia? What are its characteristics

Answer 22

achondrogenesis. micromelia, big head, small thorax and trunk, decreased mineralization

Question 23

what is the difference between thanatophoric dysplasia and achondrogenesis

Answer 23

achondrogenesis appears with decreased mineralization, a small trunk length, AND small thorax whereas thanatophoric dysplasia just has a small thorax.

Question 24

what is osteogenesis imperfecta and what causes it?

Answer 24

a group of disorders that are caused by mutations of collagen genes. it results in brittle bones and multiple fractures.

Question 25

What is osteogenesis imperfecta type II a?

Answer 25

lethal in utero, multiple fractures, small thorax and trunk, decreased mineralization, micromelia

Question 26

What autosomal recessive disorder is divided into 6 types? What are the types?

Answer 26

Hypophosphatasia: perinatal, infantile, childhooos, adult, odontohypophosphatasia, and pseudohypophosphatasia

Question 27

What is an autosomal recessive disease that is highly prevalent in Finland?

Answer 27

diastrophic dysplasia

Question 28

What is Campomelic dysplasia characterized by?

Answer 28

"bent limb" short and bowed tibia/femur, hypoplastic or absent fibula, clubfoot

Question 29

What is another name for Jeune syndrome

Answer 29

Asphyxiating thoracic dysplasia

Question 30

What do aglossia-adactylia syndrome and moebius sequence have in common?

Answer 30

syndromes with absent limbs and facial abnormalities

Question 31

What are the findings of Jeune syndrome

Answer 31

narrow and bell-shaped thorax, renal/hepatic findings

Question 32

What are characteristics of splenogonadal fusion syndrome?

Answer 32

Prevalent in male children, limb defects ad mass in scrotum identified as the spleen during surgery

Question 33

What is adams-oliver syndrome

Answer 33

a group of disorders characterized by limb reductions and scalp abnormalities

Question 34

What is phocomelia?

Answer 34

Hands and feet are present but arms and legs are not. extemeties resemble a seal

Question 35

What is Grebe syndrome

Answer 35

non-lethal disorder of polydactyly and severe hand/foot abnormalities

Question 36

what is a bilateral absence of radius associated with

Answer 36

Thrombocytopenia with absent radius syndrome, c-sections necessary

Question 37

What is VATER association

Answer 37

vertebral defects, anal atresia, single umbilical artery, congenital heart disease, radial and renal defects

Question 38

What is associated with Goldenhar syndrome

Answer 38

hemifacial microsomia, vertebral anomalies, radial defects

Question 39

What is arthrogryposis

Answer 39

multiple stiff and painful joints limiting movement present at birth with intact skeleton

Question 40

what is talipes

Answer 40

inversion of the heel and felxion of the ankle