Chapter 9: Comprehensive Overview of Congenital CT Disorders in Medicine

What are congenital deformities?

Alteration in shape due to unusual pressure or positioning in utero (ex. club foot) or after birth (ex. positional plagiocephaly)

What is positional plagiocephaly?

Head flattening due to prolonged lying in one position

What are congenital malformations?

Error in normal tissue development due to chromosomal abnormalities, single gene defect or teratogenic agents

What is polydactyly or syndactyly?

extra limb

What is talipes

club foot

What is pes planus?

flat foot

What is genu varum?

bowed legs

What is on your list of differentials for a congenital 4th nerve palsy?

Congenital torticollis

Scoliosis is when the curvature of the spine measure ____ degrees or more on an x-ray

10 degrees

How is scoliosis with a curvature of 20-40 degrees treated?

Conservatively with PT and bracing

How is scoliosis with a curvature greater than 40 degrees treated?

Surgery, spinal fusion with rod placement

What is osteogenesis imperfecta?

Brittle bone disease

Hereditary collagen disorder leading to diffuse abnormal bone fragility, hearing loss and recurrent fractures in childhood

List the 4 types of OI based on inheritance pattern as well as give their severities

AD:

Type I - mildest

Type IV - no blue sclera

AR:

Type II most severe and fatal

Type III - most severe

List the systemic symptoms of OI

1. Brittle bones (fractures)

2. Hearing loss

3. Joint hypermobility (musculoskeletal pain)

4. Dental dysgenesis

List the OM of OI

Blue sclera

List the treatment options for OI

1. Growth hormone for Type I and IV

2. Bisphosphonates

3. Cochlear implant

4. Orthopedic surgery, PT, and OT