Fetal Musculoskeletal part 2

Question 1

Characterized by rhizomelic shortening of the extremities, more prominent in the upper limbs and, a drop off in femur length during second trimester.

Answer 1

Heterozygous Achondroplastic Dwarfism

Question 2

The most common form of genetic skeletal dysplasia.

Answer 2

Heterozygous Achondroplastic Dwarfism

Question 3

Heterozygous Achondroplastic Dwarfism and Osteogenesis Imperfecta Types I, III, IV, are all types of __________ skeletal dysplasia’s.

Answer 3

Non-lethal

Question 4

80 to 90% of Heterozygous Achondroplastic Dwarfism are _________ genetic mutations. Meaning parents do not pass this gene in 80-90% of cases.

Answer 4

Spontaneous

Question 5

Because of the later manifestation and the occurrence is spontaneous this diagnosis (Heterozygous Achondroplastic Dwarfism) may be missed in the ______ trimester.

Answer 5

second

Question 6

Sonographic Findings:
- Mild to Moderate rhizomelia
- Femur length fall short of the expected length for gestational age compared with biparietal diameter, as early as 21 weeks but as late as 27 weeks.
- normal femur length prior to 20 weeks
- Macrocrania and frontal bossing 
- Brachydactyly (short digits)
This all describes?

Answer 6

Heterozygous Achondroplastic Dwarfism

Question 7

Occasional fractures, mild limb bowing, easy bruising and blue sclera are some of the clinical features that arise postnatally with what??

Answer 7

Osteogenesis Imperfecta (OI)

Question 8

These are the non-lethal of OI and have variable outcomes??

Answer 8

Osteogenesis Imperfecta (OI) Types I, III, IV

Question 9

Which type of Osteogenesis Imperfecta (OI) is the most common?

Answer 9

Type I

Question 10

Type ___ and type ____ of OI have a good prognosis.

Answer 10

Type I and IV

Question 11

Type I of OI will also have ________.

Answer 11

deafness

Question 12

Sonographic findings:

• limb shortening or bowing usually not until after 24 weeks**
• Normal mineralization or occasional demineralization with type I
• Isolated fractures are sometimes present

What Type of OI is this??

Answer 12

Type I and Type IV of OI

Question 13

Sonographic Findings:

• Moderate to severe micromelia
• Thickened and irregular lower extremity bones because of healing fractures

What type of OI is this??

Answer 13

Type III

Question 14

This means more than the normal number of digits of the hand or foot. Extra digits may consist of soft tissue only, or may contain bone.

Answer 14

Polydactyly

Question 15

This is part of fetal akinesia deformation sequence charaterized by multiple joint contractures. All four limbs are typically involved with severity of the deformities increasing distally.

Answer 15

Arthrogryposis

Question 16

__________ is associated with lack of fetal movement.

***remember this!

Answer 16

Arthrogryposis

Question 17

Hyperplasia or aplasia of the radius of the forearm is seen in many syndromes. Including Holt Oram syndrome, and Thrombocytopenia (TAR) - absent radius. In addition, trisomy 18 and some exposure conditions will also have radial abnormalities.

Answer 17

Radial Ray Abnormalities

Question 18

With cases of Radial Ray Abnormalities you will see inward ________ of the hand.

Answer 18

deflection

Question 19

The permanent curvature or deflection of one or more digits is called?

Answer 19

clinodactyly

Question 20

The fusion of digits, either soft tissue or bony fusion is called?

Answer 20

syndactyly

Question 21

This lower extremity abnormality can be genetic or environmental. It is described as an abnormal relationship between the tarsal bones and the calcaneus with different versions.

Answer 21

Clubfoot Deformity

Question 22

Environmental causes for Clubfoot Deformity include __________ like with oligohydramnios, _________, uterine tumors or uterine duplication.

Answer 22

uterine constraint

amniotic band syndrome

Question 23

Approximately 55% of clubfoot deformities are _________.

Answer 23

bilateral

Question 24

Sonographic diagnosis for clubfoor is based upon knowledge of the relative position of the foot and the long bones and often relies on the _________ of the long axis of the _______ and foot in the same plane.

Answer 24

visualization

lower leg

Question 25

This lower extremity defect can be associated with Trisomy 18 and other anomalies.

Answer 25

Rocker bottom foot

Question 26

What is Rocker Bottom Foot?

Answer 26

the bottom of the foot looks like a rocker bottom or convex outward.

Question 27

This is a lower extremity fusion and abnormal or absent foot structures. This can be part of Caudal Regression Syndrome, seen with severe diabetics**.

Answer 27

Sirenomelia or mermaid syndrome

Question 28

Sonographic Findings:

• Single femur or two femurs constantly side-by-side
• Oligohydramnios
• Abnormal or absent foot structures
• Associated with bilateral renal agenesis

Answer 28

Sirenomelia or Mermaid Syndrome