Deck 65: Fetal Skeleton

Question 1

Sonographic features of a small thorax, rhizomelia, renal dysplasia, and polydactyly are associated with which one of the following conditions?

A) Jeune syndrome
B) Short-rib polydactyly
C) Ellis-von Creveld syndrome
D) Roberts syndrome

Answer 1

A

Question 2

Which one of the following nonlethal skeletal dysplasias is most common?

A) Achondroplasia
B) Achondrogenesis
C) Diastrophic dysplasia
D) Short-rib polydactyly syndrome

Answer 2

A

Question 3

A congenital condition characterized by a disorder of collagen production is which one of the following?

A) Achondroplasia
B) Osteogenesis imperfecta
C) Achondrogenesis
D) Thanatophoric dysplasia

Answer 3

B

Question 4

Which one of the following anomalies is associated with a cloverleaf skull?

A) Achondroplasia
B) Congenital hypophosphatasia
C) Osteogenesis imperfecta
D) Thanatophoric dysplasia

Question 5

Which one of the following statements about achondroplasia is incorrect?

A) Advanced maternal age is a risk factor.
B) Patients with heterozygous achondroplasia have a poor survival rate.
C) Achondroplasia is most commonly the result of a spontaneous mutation.
D) Achondroplasia results from decreased endochondral bone formation.

Question 6

Which one of the following anomalies is associated with micromelia and a "hitchhiker thumb"?

A) Diastrophic dysplasia
B) Ellis-van Creveld syndrome
C) Roberts syndrome
D) Tar syndrome

Question 7

A diagnosis of talipes may be made with which one of the following characteristics?

A) Persistent inversion of the foot
B) Persistent abnormal inversion of the foot parallel to the lower leg
C) Persistent abnormal inversion of the foot perpendicular to the lower leg
D) Persistent abnormal inversion of the lower leg

Question 8

Sonographic findings of severe micromelia, decreased or absent ossification of the spine, macrocephaly, and micrognathia describe which one of the following conditions?

A) Osteogenesis imperfecta
B) Achondroplasia
C) Achondrogenesis
D) Diastrophic dysplasia

Question 9

Fusion of the lower extremities is associated with which one of the following?

A) Sirenomelia
B) Hypophosphatasia
C) Osteogenesis imperfecta
D) Thanatophoric dysplasia

Question 10

Which one of the following terms describes a shortening of the proximal portion of the extremity?

A) Hemimelia
B) Mesomelia
C) Micromelia
D) Rhizomelia

Question 11

The most common lethal skeletal dysplasia is which one of the following conditions?

A) Osteogenesis imperfecta
B) Thanatophoric dysplasia
C) Achondroplasia
D) Craniosynostosis

Question 12

Which one of the following anomalies is associated with the Amish community?

A) Congenital hypophosphatasia
B) Ellis-van Creveld syndrome
C) Holt-Oram syndrome
D) Roberts syndrome

Question 13

Which one of the following anomalies is caused by an alkaline phosphatase deficiency?

A) Achondrogenesis
B) Congenital hypophosphatasia
C) Diastrophic dysplasia
D) Thanatophoric dysplasia

Question 14

Which one of the following diagnoses is most likely when multiple fractures and a compressible calvarium are identified?

A) Achondrogenesis
B) Achondroplasia
C) Osteogenesis imperfecta
D) Thanatophoric dysplasia

Question 15

The sonographic features of achondroplasia may not be evident until after _____ weeks' gestation.

A) 18
B) 20
C) 22
D) 24

Question 16

Type ____ classification of osteogenesis imperfecta is considered the most severe.

A) I
B) II
C) III
D) IV

Question 17

A rare condition characterized by phocomelia and facial anomalies is which one of the following syndromes?

A) Roberts
B) Jeune
C) Ellis-van Creveld
D) Pena-Shokeir

Question 18

Which one of the following anomalies demonstrates similar ultrasound characteristics to trisomy 18?

A) Arthrogryposis multiplex congenita
B) Jeune syndrome
C) Multiple pterygium syndrome
D) Pena-Shokeir syndrome

Question 19

A group of lethal skeletal dysplasias characterized by bowing of the long bones is which one of the following abnormalities?

A) Diastrophic dysplasia
B) Congenital hypophosphatasia
C) Camptomelic dysplasia
D) Postural anomalies

Question 20

All of the following are characteristics of thanatophoric dysplasia except:

A) cloverleaf skull.
B) microcephaly.
C) extreme micromelia.
D) short ribs.

Question 21

Abnormal growth and density of cartilage and bone is described as which one of the following?

A) Skeletal anomalies
B) Skeletal dysplasia
C) Achondroplasia
D) Osteogenesis imperfecta

Question 22

Webbing across the joint and multiple contractures are sonographic findings of which one of the following abnormalities?

A) Roberts syndrome
B) Jeune syndrome
C) Arthrogryposis multiplex congenita
D) Lethal multiple pterygium syndrome

Question 23

The majority of talipes is _______________.

A) associated with most chromosomal abnormalities
B) associated with most skeletal dysplasias
C) idiopathic
D) associated with advanced maternal age

Question 24

Which one of the following conditions is caused by cartilage abnormalities that result in abnormal bone formation and hypomineralization?

A) Osteogenesis imperfecta
B) Thanatophoric dysplasia
C) Hypophosphatasia
D) Achondrogenesis

Question 25

A lethal skeletal dysplasia characterized by short ribs, short limbs, and polydactyly is which one of the following?

A) Hypophosphatasia
B) Arthrogryposis multiplex congenita
C) Short-rib polydactyly
D) Camptomelic dysplasia