Ch. 65

Question 1

The fetal survey performed at 22 weeks’ gestation show shortened extremities and trunk with decreased echogenicity of the bones and spine, and flipper-like appendages. What skeletal dysplasia is present?

Answer 1

achodrogenesis

Question 2

Early ossification of the calvarium with destruction of the sutures was seen in this fetus. Identify the skeletal dysplasia

Answer 2

craniosynostosis

Question 3

A lethal congenital condition characterized by decreased mineralization of the bones resulting in ribbon-like and bowed limbs, under ossified cranium, and compression of the chest is representative of what skeletal dysplasia

Answer 3

congenital hypophosphatasia

Question 4

A metabolic disorder affecting the fetal collagen system that leads to varying forms of bone disease: on ultrasound, multiple intrauterine bone fractures, shortened long bones, poorly mineralized calvaria, and compression of the chest was found in this anomaly. What skeletal dysplasia is present

Answer 4

osteogenesis imperfecta

Question 5

Which condition shows anomalies of the hands or feet in which there is an addition of a digit? Hint: it may coexist in association with certain skeletal dysplasias

Answer 5

short rib polydactyly syndrome

Question 6

A lethal short-limbed dwarfism characterized by a marked reduction in the length of the long bones, pear-shaped chest, soft-tissue redundancy, and frequent cloverleaf skull deformity and ventriculomegaly is known as what skeletal dysplasia

Answer 6

thanatophoric dysplasia

Question 7

A defect in the development of the cartilage at the epipyseal centers of the long bones producing short, square bones

Answer 7

achondroplasia

Question 8

The majority of the musculoskeletal system is formed from the primitive ______ arising from the mesenchymal cells that are the embryonic connective tissues

Answer 8

mesoderm

Question 9

The vertebral column and ribs arise from the _______ and the limbs arise from the lateral plate _____

Answer 9

somites, mesoderm

Question 10

Initially the limbs have a paddle shape with a ridge of thickened _______ known as the apical ectodermal ridge, at the apex of each bud

Answer 10

ectoderm

Question 11

The fingers are distinctly evident by day 49, although they are still webbed, and by the _____ week of development, the fingers are longer

Answer 11

8th

Question 12

Development of the feet and toes is essentially complete by the ______ week, although the soles of the feet are still turned inward at this time

Answer 12

9th

Question 13

The term used to describe abnormal growth and density of cartilage and bone is skeletal

Answer 13

dysplasia

Question 14

Type 1 _______ is characterized by short, curved femurs and flat vertebral bodies

Answer 14

thanatophoric dysplasia

Question 15

Type 2 is characterized by straight, ______ femurs, flat vertebral bodies and a ________ skull

Answer 15

cloverleaf

Question 16

The most common nonlethal skeletal dysplasia is

Answer 16

achondroplasia

Question 17

Achondrogenesis is caused by cartilage abnormalities that result in abnormal _______ formation and _______

Answer 17

bone, hypo mineralization

Question 18

Osteogensis imperfecta is a rare disorder of collagen production leading to _____ bones, manifestations in the teeth, skin and ligaments; and blue _______

Answer 18

brittle, sclera

Question 19

A condition that presents with diffuse hypomineralization of the bone caused by an alkaline phosphatase deficiency is congenital

Answer 19

hypophosphatasia

Question 20

Camptomelic (best bone) dysplasia is a group of lethal skeletal dysplasia that are characterized by ______ of long bones

Answer 20

bowing

Question 21

Short-rib polydactyly syndrome is a lethal skeletal dysplasia characterized by short ribs, short _____ and polydactyly

Answer 21

limbs

Question 22

Ellis-van creveld syndrome may present with a ____ thorax, causing pulmonary hypoplasia, and heart defects, the most common of which is the ________

Answer 22

narrow, atrial deptal defect

Question 23

An anomaly in which there is fusion of the lower extremities is

Answer 23

sirenomelia/caudal regression syndrome

Question 24

For the VACTERL association to be considered, _____ features must be identified; a ______ umbilical artery may also be identified

Answer 24

3, single

Question 25

Amputation defects may be identified as total or partial absence and may be associated with ________ syndrome

Answer 25

amniotic band

Question 26

Clubfoot, also known as _______, describes deformities of the foot and ankle

Answer 26

talipes

Question 27

_______ is characterized by a prominent heel and convex sole

Answer 27

rocker bottom foot

Question 28

Shortening of entire extremity

Answer 28

micromelia

Question 29

When does limb development begin

Answer 29

26th or 27th day after conception for upper limbs, 2 days later for lower limbs

Question 30

What occurs secondary to skeletal dysplasia and is described as disproportionately short stature

Answer 30

dwarfism

Question 31

Shortening of the proximal bone segment (humerus/femur)

Answer 31

rhizomelia

Question 32

Shortening of the middle segments (radius/ulna/tibia/fibula)

Answer 32

mesomelia

Question 33

Congenital absence of 1 or more limbs

Answer 33

amelia

Question 34

Split hand

Answer 34

lobster claw deformity

Question 35

What is another name for Ellis-Van creveld syndrome

Answer 35

chondroectodermal dysplasia

Question 36

Group of anomalies that may occur together

Answer 36

VACTERL association

Question 37

Abnormal joint contractures, facial abnormalities, IUGR/poly, pulmonary hypoplasia, similar to Trisomy 18

Answer 37

pena-shokeir syndrome

Question 38

Rare, micromelia, talipes, cleft palate, micrognathia, scoliosis, short stature, hand/earlobe abnormalities, not lethal

Answer 38

diastrophic dysplasia

Question 39

Bent bones, lethal group of dysplasias, short limbs, bowing of long bones, lethal

Answer 39

camptomelic dysplasia

Question 40

Rare, phocomelia, facial anomalies, pseudothalidomide syndrome, poor outcome

Answer 40

roberts syndrome

Question 41

Asphyxiating thoracic dysplasia, narrow thorax, poor outcome

Answer 41

jeunes syndrome

Question 42

Severe extremity contractures, muscle/connective tissue disorders

Answer 42

arthogryposis multiplex congenita

Question 43

Webbing across joints, multiple contractures, x-linked inheritance

Answer 43

lethal multiple pterygium syndrome