Congenital Disorders

Question 1

Define torticollis.

Answer 1

Torticollis refers to an abnormality of the neck muscles which cause the head to tilt and rotate. It can be congenital or acquired.

Question 2

What is the most common cause of torticollis?

Answer 2

It is most commonly caused by injury or inflammation of the sternocleidomastoid or trapezius muscle, and sometimes atlantoaxial rotary displacement.

Question 3

List four congenital causes of torticollis.

Answer 3

Tightening of one sternocleidomastoid muscle with the other one absent or atretic; traumatic delivery resulting in a hematoma within the sternocleidomastoid muscle; fixed positioning in utero resulting in fibrosis; cervical spine lesions.

Question 4

List four serious acquired causes of torticollis in children.

Answer 4

Retropharyngeal abscess; suppurative jugular thrombophlebitis (Lemierre syndrome); cervical spine injury; or CNS tumor.

Question 5

Define clubfoot.

Answer 5

A congenital defect in which the foot appears plantar flexed and medially rotated (inverted).

Question 6

What is typically the cause of clubfoot?

Answer 6

It is usually idiopathic and results from shortened ligaments.

Question 7

What is the treatment for clubfoot?

Answer 7

Refer early to orthopedic surgery for treatment; the goal is to correct the problem before the infant begins to walk. Serial casting is first-line therapy, with surgical lengthening used in refractory cases.

Question 8

What are the (3) main causes of intoeing?

Answer 8

Metatarsus adductus, internal tibial torsion, and internal femoral torsion.

Question 9

Define intoeing.

Answer 9

Intoeing refers to the feet pointing inward while walking instead of pointing forward.

Question 10

What is the etiology and natural course of metatarsus adductus?

Answer 10

Metatarsus adductus occurs due to intrauterine crowding and resolves spontaneously within the first year of life.

Question 11

How does metatarsus adductus appear on physical exam?

Answer 11

The foot appears curved, with the medial border appearing concave and the lateral border appearing convex.

Question 12

What is the most common cause of intoeing?

Answer 12

Internal tibial torsion

Question 13

When does internal tibial torsion usually present and what is the typical clinical course?

Answer 13

It presents in the 2nd year when the infant starts to walk. Most cases resolve spontaneously by school age; surgery is reserved for severe cases causing functional or cosmetic deformity that persist past 8 years of age.

Question 14

What are the typical physical exam findings in a patient with internal tibial torsion?

Answer 14

The medial malleolus is even with or posterior to the lateral malleolus and, although the toes are rotated medially, the patella faces forward when walking.

Question 15

What causes the development of internal femoral torsion?

Answer 15

Internal femoral torsion is due to medial rotation of the femur caused by intrauterine molding and genetic inheritance.

Question 16

How does internal femoral torsion typically present?

Answer 16

It presents in preschool-age (3-6 year old) children. These children find the “W” sitting position comfortable.

Question 17

What are the typical physical exam findings in a patient with internal femoral torsion?

Answer 17

Exam reveals medial orientation of both the toes and patella when walking and increased internal rotation with decreased external rotation of both hips while the patient is lying prone with knees flexed.

Question 18

What is the typical clinical course for patients with internal femoral torsion?

Answer 18

Most cases spontaneously resolve by 11 years of age. Surgery is reserved for severe cases that interfere with ambulation.

Question 19

Define polydactyly.

Answer 19

The condition of having more than 5 digits per hand or foot.

Question 20

What is the typical management of polydactyly?

Answer 20

X-ray the hand or foot to determine if there is bone involved in the extra digit. In most cases, the extra digit is surgically removed.

Question 21

What is Sprengel deformity?

Answer 21

In Sprengel deformity, there is a congenital malposition and dysplasia of the scapula. The adjacent muscles are also hypoplastic.

Question 22

What are some (5) of the conditions that can be associated with Sprengel deformity?

Answer 22

Klippel-Feil syndrome, VATER (Vertebral defects, Anal atresia, Tracheo-Esophageal fistula, Radius and Renal anomalies), absent or fused ribs, cervical ribs, and congenital scoliosis.

Question 23

What would you expect to see on physical exam in a patient with Sprengel deformity?

Answer 23

Shoulder asymmetry with the affected scapula elevated, adducted, and medially rotated inferiorly. There is restricted shoulder movement on the affected side.

Question 24

How are the anomolies in Sprengel deformity best visualized?

Answer 24

With X-ray

Question 25

What is the typical management of Sprengel deformity?

Answer 25

In most patients, non-surgical treatment is sufficient; this consists of physical therapy to improve range of motion and strengthen surrounding muscles. Severe cases may require surgical intervention.

Question 26

What is the classic triad of symptoms for Kippel-Feil syndrome?

Answer 26

Short neck, limited neck motion, and low occipital hairline.

Question 27

What is the underlying defect in Klippel-Feil syndrome?

Answer 27

There is abnormal vertebral segmentation resulting in congenitally fused cervical vertebrae.

Question 28

What are some of the conditions that can be associated with Klippel-Feil syndrome?

Answer 28

Sprengel deformity, scoliosis, renal anomalies, synkinesia (involuntary movement of one body part when moving another), congenital heart disease, and deafness.

Question 29

What studies should be performed in a child found to have Klippel-Feil syndrome?

Answer 29

Careful physical exam, x-ray of the entire spine, and renal ultrasound.

Question 30

What feature correlates with the highest risk for serious neurologic sequelae in patients with Klippel-Feil syndrome?

Answer 30

Patients with abnormalities at the occipito-C1 junction have the highest risk for serious neurologic sequelae.