Musculoskeletal - Bone - Congenital

Question 1

Spina Bifida and myelomeningocele

Answer 1

• Congenital disorder
• In its extreme form, myelomeningocele, it involved both musculoskeletal and neural tube defects.
• These defects are often termed “dysraphisms”

AKA - Neural tube defect; Dyraphism

Question 2

Spina Bifida Occulta

Answer 2

• Defect in closure of the posterior elements

Question 3

Meningocele

Answer 3

• Meningeal layers herniate through the posterior arch defect

Question 4

Myelomeningocele

Answer 4

• Spinal cord herniates into the meningocele and is damaged

Question 5

Myeloschesis

Answer 5

• Meningiocele is open exposing the spinal cord to external environment
• typically lumbar in location but can occur at other levels
• incidence 1 in 4000 live births

Question 6

Spina Bifida Occulta - presentation

Answer 6

• Can be asymptomatic
• Most lack neurologic signs
• Patches of hair and or dermoid cysts can be present

Question 7

Meningocele - presentation

Answer 7

• Can be asymptomatic or can involve significant spinal cord or root damage

Question 8

Myelomeningocele - presentation

Answer 8

• Severe neurologic damage involving spinal cord and roots

* Lower extremity, bladder and bowel involvement

Question 9

Myeloschesis - presentation

Answer 9

• complete destruction of the spinal cord

Question 10

Spina Bifida and myelomeningocele - diagnosis

Answer 10

• Neurologic examination
• Radiographs of the spine
• CT or MRI imagaing; spine and head

Question 11

Spina Bifida and myelomeningocele - Prevention

Answer 11

• FOlic acid

Question 12

Metatarsus Adductus

Answer 12

• Common congenital defect of the lower extremity that manifests mainly in adduction of the forefoot, however other components of the foot are abnormal as well.

AKA - metatarsus varus; In-toed

Question 13

Metatarsus Adductus - History

Answer 13

• This is a relatively common disease affecting about one out of every 1,000 to 2,000 live births
• Equally males and females
• Bilateral in 50% of patients
• Risk factors may include a condition called oligohydramnios where enough amniotic fluid in the uterus
• Accompanying malformations include acetabular dysplasia.

Question 14

Metatarsus Adductus - Presentation

Answer 14

• Symptoms are absent during infancy, parents concern usually initiates the evaluation
• Forefoot is adducted and can be supinated as well
• Lateral borders of the foot is convexed
• Great toe and second toe are spread
• Hindfoot is neutral or valgus, but not varus
• Normal ankle dorsiflexion is present

Question 15

Tibial Torsion

Answer 15

• Internal tibial torsion is a congenital condition which results from in utero positioning. The tibia is rotated medial resulting in an in-toeing of the foot.

AKA - In-toeing; pigeon toeing; internal torsion

Question 16

Tibial Torsion - History

Answer 16

• In children younger than 18 months, metarsus adductus is the most common condition that causes in-toeing.
• Between the ages of 18 months and 3 years, tibial torsion is the most common condition.
• In children older than 3 years, femoral torsion is the most common diagnosis

Question 17

Tibial Torsion - Presentation

Answer 17

• In-toeing of the foot on the effected side

* DIagnostic testing: Prone, thigh - foot angle

Question 18

Congenital Scoliosis

Answer 18

• The most prevalent form of scoliosis is the idiopathic form, but you should be aware of the existence of a congenital form as well.
• Congenital scoliosis occures due to an abnormality in the development of the spinal column

Question 19

Congenital Scoliosis - History

Answer 19

• The incidence of congenital scoliosis in the general population is approximately 1/1000 to 1/2000.
• Congenital scoliosis is responsible for 10% of the cases of scoliosis, the remaining are either idiopathic in nature or derived from neuromuscular or spinal disease or secondary to systemic diseases effecting the vertebral column
• Causal factors include:
• partial or complete failure in vertebral formation
• partial or complete failure in body segment formation
• Other congenital malformation often present with congenital scoliosis such as spinal dysraphism

Question 20

Congenital Scoliosis - Presentation

Answer 20

• Presentation tends to occur during or right after a growth spurt such as around the age of 10
• Earlier presentation heralds a much more serious prognosis

Question 21

Pes Planus

Answer 21

• Hypermobile pes plannus or “flexible flat feet” is a common congenital condition in neonates.
• It is associated with laxity in the ligaments of the medial longitudinal arch of the feet.
• On weight-bearing, the arch flattens, becomming pronated
• Although of much concern to parents, in general it is of little clinical significance to the child’s development.

AKA - Flat feet, flexible flat feet, peroneal spastic flatfoot, pes planus, pronated foot, valgus foot

Question 22

Pes Planus - History

Answer 22

• Abnormally low or absent longitudinal arch
• Alwyas bilateral
• Visible arch when not standing and normal mobility of the subtalar joint
• Very common, but of marginal clinical significance when it occurs
• To be distinguished from rigid flat feet which can have more serious underlying pathology

Question 23

Pes Planus - Presentation

Answer 23

• Flexible flat feet are,for the most part, asymptomatic

Question 24

Cleidocranial dysostosis

Answer 24

• Autosomal dominant congenital disorder of skeletal development with deficient and imperfect ossification of the bones - midline bones especially those formed membrane (clavicle, cranium, pelvis).
• It appears to be a mutation in a transcription factor Runx2/CBFA1, which controls osteoblast differentiation

Question 25

Cleidocranial dysostosis - History

Answer 25

* Rare * The gene for the disorder is osteoblast specific transcription factor 2 (Osf2)/Core binding factor activity 1 (Cbfa1; also termed Runx2) and has been mapped to chromosome 6p21

Question 26

Congenital Limb Deficiencies

Answer 26

* can involve missing or partially formed bones in the extremities. * The most common form is fibular hemimelia or longitudinal fibular deficiency. It typically presents with limb length inequality. * Deficiencies that involve retarded growth plate activity result in shortened limbs and are termed dwarfisms. The most common form of dwarfism is Achondroplasia, which is an autosomal dominant disorder that results from a mutation in the FGF receptor 3 gene (FGFr3). AKA - Amelia, Hemiamelia

Question 27

Congenital Limb Deficiencies - History

Answer 27

* In the upper extremity four conditions are common enough to mention: - hypoplasia or absence of the thumb - Radial deficiency - Ulnar deficiency - Transverse deficiency of the forearm (complete absence of the hand and wrist also occur in this situation) * In the lower extremity the following situations exist: - fibular deficiency - tibial deficiency - longitudinal deficiency of the femur

Question 28

Sprengel Deformity

Answer 28

* Congenital disorder featuring an abnormally high position scapula that failed to descend to the normal position during development.

Question 29

Sprengel Deformity - History

Answer 29

* Uncommon * Can be accompanied with webbing of the skin between the neck and scapula * Scapula can develop a bony connection with the spine * Limited shoulder range of motion * Can be accompanied by the Klippel-Feil abnormality