8.4 - Orthopedics

Pectus Deformities Defn

Abnormal growth of the sternum and ribs at the cartilaginous connection

Pectus Carinatum

Creates a protrusion outwards

Pectus Excavatum

Creates a protrusion inwards

List the types of Pectus Carinatum

1. Costoglandiolar

2. Costomanubrial

What is the most common Pectus Carinatum?

Costoglandiolar

Costoglandiolar

Affects the body of the sternum

Costomanubrial

Affects the upper part, manubrium

What is the least common pectus carinatum?

Costomanubrial

What is Costomanubrial also known as?

Horseshoe pectus

Incidence rate of pectus carinatum

1:1000 teens

Who does pectus carinatum mostly impact?

males

Etiology behind pectus carinatum

No defined etiology - suspecting a genetic link

What is pectus carinatum associated with?

Scoliosis and inherited connective tissue disorders (Marfan’s, Ehlers-Danlos, etc)

Symptoms of Pectus Carinatum

Often asymptomatic - except visible deformity

Pain

Decreased stamina, rapid fatigue

Psychological issues (body image and self-confidence)

Pectus Carinatum treatment

Compression orthosis that is worn for 8-20 hours a day until skeletal maturity

Why is a compression orthosis used for pectus carinatum treatment?

Wolff’s law! when healthy bone and cartilage are loaded with constant and increasing force, they will adapt, strengthen, and gradually remodel under pressure

Pectus Excavatum symptoms

Varies depending on the depth of the indentation but includes

Decreased exercise tolerance, rapid heartbeat/heart palpitations, wheezing or coughing, chest pain, fatigue, dizziness

What can Pectus Excavatum do?

Can reduce the room the lungs have to expand and squeeze the heart

Who does Pectus Excavatum mostly impact?

Males

What is Pectus Excavatum associated with?

Scoliosis, osteogenesis imperfecta, and inherited connective tissue disorders (Marfan’s, Ehler’s-Danlos, etc)

Pectus Excavatum treatment options

Vacuum bell and surgery

Osteogenesis Imperfecta is also known as

Brittle bone disease

What is Osteogenesis Imperfecta caused by?

Dominant autosomal mutations in the type I collagen coding genes (~85% of the cases). In the past decade, recessive, dominant and X-linked defects in a wide variety of genes have been shown to cause OI

What does OI affect?

Collagen quantity or quality - the abnormal collagen increases the fragility of the bones making them more prone to fractures

OI symptoms

Short stature

triangular face

breathing problems

hearing loss

brittle teeth

sclera color changes

bone deformities, such as bowed legs or scoliosis

What is the most common and mildest type of OI?

Type I

Type I OI

Collagen structure is normal but there is less of it, minimal bone deformity, but bones are fragile and easily broken, teeth may be prone to cavities and crackling, the whites of the eyes may have a blue, purple, or gray tint

What is the most severe form of OI?

Type II

Type II OI

Collagen does not form properly, bones may break even while the fetus is in the womb, many infants do not survive.

Type III OI

Improperly formed collagen, often severe bone deformities

The infant is often born with fractures

Whites of eyes may be white, blue, purple, or gray

Usually shorter than average height

May have spinal deformities, respiratory complications, and brittle teeth

Type IV OI

Moderately severe with improperly formed collagen

Bones fracture easily

Whites of eyes are NORMAL

May be shorter than average height and may have brittle teeth

Bone deformities are mild to moderate

Compare and contrast Osteoporosis to OI

Osteoporosis - normal bone, but there is LESS bone, prone to fractures

OI - Abnormal bone due to collage type I mutation where it is poor quality or low quantity of collagen, Collagen is the primary protein that forms the framework for the bone providing its strength, abnormal or low collagen creates weak bone structure, prone to fractures

Do fractures in OI patients increase or decrease in most patients post puberty? Why?

DECREASE - due to hormonal and metabolic changes

People with OI can develop what? Why?

Osteoporosis because they do not develop appropriate bone mass at any age

In OI patients, what are methods of preventing age-related bone loss and maintaining good bone density?

Diet - calcium and vitamin D

Exercise - moderate exercise! such as walking and swimming

NO SMOKING

medications - bisphosphonates

Non-surgical OI treatments

Bisphosphonates - slow down bone resorption

Immobilization - cast or orthosis

Exercise - low impact, swimming and walking

Surgical OI treatment options

Rodding - repeated fractures, angulation

Spinal fusion (scoliosis)

Describe Arthrogryposis Multiplex Congenita

Presents at birth with multiple contractures, muscles only being fibrous bands, and joint deformities

What causes Arthrogryposis - surface level?

Decreased fetal movement in an intact skeleton - joint deformities are secondary due to the lack of active motion during intrauterine development

What can cause Arthrogryposis?

Can be caused by ANY underlying condition resulting in decreased fetal movement. SUch as CNS disorders, LMN disorders, Fetal environment not having enough amniotic fluid (oligohydramnios), and congenital muscular dystrophy

Signs of Arthrogryposis

Joint contracture

webbing of joints

rigidity

muscle weakness

normal cognition

delayed motor development (independent sitting at 15 months and ambulation at 2-3 years)

What are two different postures that indicate Arthrogryposis?

Jackknife and Frog postures

Describe jackknife posture

Flexed hips, extended knees, clubfeet

Describe the frog posture

Abducted, externally rotated hips, flexed knees, and clubfeet

Arthrogryposis treatment

PT (exercise, improve ROM, and increase strength),

OT (develop fine motor skills and increase independence),

serial casting (improve alignment or ROM),

orthosis (provide functional support for ambulation),

surgery (increase ROM through joint capsule release, tendon release, clubfoot treatment)

What is the most common cause of limb deficiency? What is the most commonly impacted limb? What sex is impacted the most?

Congenital - arm - male

What are the causes of congenital limb deficiency?

Unknown

What do the majority of congenital limb deficiency cases impact?

The arm

In the upper limb, congenital deficiencies most frequently involve the ______

Hand

In the lower limb, ______ deficiency is the most common

Toe

Limb development begins in the ____ week of gestation and is almost complete by the _____ week

4th - 8th

In 1959-1962, _____________ was prescribed for treatment of nausea during pregnancy. This resulted in many cases of ________, which is limb deficiency.

Thalidomide, Phocomelia

Amniotic band syndrome is also known as?

Streeter’s dysplasia

Congenital limb deficiencies often have additional problems such as

Inadequate proximal musculature

Unstable joints

Mal-rotation

Limb-length differences

Is congenital limb deficiency treatment consistent?

NO - every treatment plan is different and needs to be discussed with the parents

List the treatment options for congenital limb deficiency

Sometimes no intervention

Surgical intervention (reconstruction or amputation)

Orthosis

Prosthesis

Prosthosis?