Week 3 - C - Limb malformations (synadactyly/polydactyly/fibular hemimelia)&Brachial plexus palsy (Erb's/Klumpke's),Milestones

Question 1

Limb malformations are a type of paediatric developmental disorders * Limb malformations include extra bones, absent bones, short (hypoplastic) bones and fusions of bones and/or skin and soft tissues. What is the usual cause of limb malformations?

Answer 1

Some limb malformations are genetically determined with an autosomal inheritance whilst others are due to an insult to the developing limb bud usually between the 4th and 6th weeks of gestation

Question 2

What is the commonest congenital malformation of the limbs?

Answer 2

Synodactyly is the commonest congenital malformation of the limbs - this is where two digits (fingers or toes) are fused

Question 3

What causes the fusion of the two digits in syndactyly?

Answer 3

Two digits are fused due to failure of separation of the skin/soft tissues or phalanges of adjacent digits either partially or along the entire length of the digits

Question 4

What is the treatment of synadactyly?

Answer 4

Surgical separation may be required (usually at the age of 3 or 4)

Question 5

What is polydactyly and how may it be treated?

Answer 5

Polydactyly is where an extra digit is formed and can be treated by amputating the extra digit

Question 6

Fibular hemimelia is one of the most common limb deficiencies What happens in fibilar hemimelia? How does it present?

Answer 6

Fibular hemimelia is a birth defect where all or part of the fibular bone is missing It causes patients to present with a shortened limb, bowing of the tibia and ankle deformity

Question 7

How are mild cases of fibular hemimelia treated?

Answer 7

Mild cases can be treated with limb lengthening with a circular frame external fixator (Ilizarov apparatus)

Question 8

The incidence of brachial plexus injury during vaginal delivery is around 2 in 1000 Which babies does it most commonly arise in?

Answer 8

Most commonly arises in * large babies (macrosomia in diabetes baby >8 pounds 13 ounces) * twin deliveries * shoulder dystocia (difficult delivery of the shoulder after the head with compression of the shoulder on the pubic symphysis)

Question 9

What is the commonest type of obstetric brachial plexus palsy? Which nerve roots are affected?

Answer 9

Commonest type of obstetric brachial palsy is Erb’s palsy Nerve roots injured are C5 and C6

Question 10

Which muscle have a resultant loss in motor innervation due to Erb’s palsy?

Answer 10

The damage to C5 and C6 affects muscles * Deltoid - abduction * Supraspinatus - abduction * Infraspinatus - external rotation * Biceps - supination * Brachialis - flexion of the elbow

Question 11

What is the classic posture of the arm of a child who has Erb’s palsy known as? Describe the arm ere

Answer 11

The paralysis of the different muscles (deltoid, supraspinatus, infraspinatus, biceps and brachialis) leads to * internal rotation of the humerus (from unopposed subscapularis), pronated, extended and adducted arm * This is known classically as Waiter’s tip

Question 12

What is the treatment reequired in Erb’s palsy?

Answer 12

Physiotherapy is required to prevenet contractures early on and prognosis is predicted by the return of biceps function by 6 months

Question 13

What is the much rarer and lower brachial plexus palsy known a? Which nerve routes are affected here? What causes it?

Answer 13

Much rarer and lower brahcial plexus palsy is known as Klumpke’s palsy Klumpke’s palsy is caused by injury to C8 and T1 roots when the arm is pulled superiorly (forceful abduction) (eg if a babies arm is pulled when it presents or falling from a height and trying to grab onto something)

Question 14

What does the injury to C8 and T1 nerve roots results in the paralysis of? What syndrome can it cause?

Answer 14

This results in a combination of median and ulnar nerve injury with paralysis of intrinsc hand muscles +/- finger and wrist flexors And possibly Horner’s syndrme (due to disruption of first sympathetic ganglion from T1)

Question 15

What is the typical position of the hand in Klumpke’s palsy?

Answer 15

There is loss of wrist extension and The fingers are typically flexed (due to paralysis of the interossei and lubricals which assist extension at the PIP joints).

Question 16

How does the recovery of Erb’s palsy compare to Klumpke’s palsy? What is the treatment of both?

Answer 16

Erb’s palsy is treated with physiotherapy to prevenet contractures early on and return of biceps function by 6 months is associated with 80-90% recovery Klumpke’s palsy has no specific treatment and less than 50% recovery

Question 17

Quickly rattle through the developmental milestones What milestones should be achieved by 6 weeks? (all 4 sections)

Answer 17

Gross motor skills - Head control in vertical Fine motor and vision - Follows torch with eyes Language and hearing - Stills to voice Social skills and play - Social smile

Question 18

What milestones should be reached by 3 months?

Answer 18

Gross motor skills - No head lag on pulling to sit Fine motor and vision - Regards hands held in midline Language and hearing - Begins to vocalise Social skills and play - Reacts pleasurably to familiar situations

Question 19

What milestones should be reached by 6 months?

Answer 19

Gross motor skills - Pushes up on arms on prone and weight bears on legs Fine motor and vision - Grasps toys with palmar grasp and transfers from hand to hand Language and hearing - Babbles, screams when annoyed Social skills and play -Still friendly around strangers

Question 20

What milestones should be reached by 9 months?

Answer 20

Gross motor skills - crawls and stands holding onto furniture, also sits unsupported Fine motor and vision - holds toys in a scissor grip Language and hearing - imitates sounds Social skills and play - anxious around strangers

Question 21

What milestones should be reached by 12 months?

Answer 21

Gross motor skills - able to walk/cruise around furniture Fine motor and vision - fine pincer grip Language and hearing - can say 1-3 words and knows name Social skills and play - can drink from cup

Question 22

What milestones should be reached by 18months?

Answer 22

Gross motor skills - able to run, climbs onto adult chair Fine motor and vision - builds tower of 3 bricks Language and hearing - can say 5-20, points to body parts Social skills and play - can feed from spoon, mimics adults

Question 23

What milestones should be reached by 2 years?

Answer 23

Gross motor skills - climbing stairs 2feet per tread Fine motor and vision - build blocks of 6-7 bricks Language and hearing - able to say 50+ words Social skills and play - symbolic play eg feeding teddy

Question 24

What milestones should be reached by 3 years?

Answer 24

Gross motor skills - Climbs stairs with alternating feet Fine motor and vision - builds towers of 9bricks and copies circle Language and hearing - asks lots of questions Social skills and play - understands sharing with others and washes hands

Question 25

What milestones should be achieved by 4 years?

Answer 25

Gross motor skills - able to hop Fine motor and vision - builds tower of 12 bricks, draws a man Language and hearing - Say 5+ words in a sentence Social skills and play - understands turn taking