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PassPMR - 09 Pediatrics > 1- Genetic & Development > Flashcards

1- Genetic & Development Flashcards

1
Q

List 8 Clinical features of Down Syndrome 🔑

A

HEAD

  1. Third fontanelle
  2. Upward slant of palpebral fissures
  3. Brushfield spots of iris
  4. Low-set ears
  5. Protruding tongue

LIMBS

  1. Single palmar (simian) crease
  2. Single flexion crease and incurving (clinodactyly) of fifth fingers
  3. Increased distance between first and second toes
  4. Excess nuchal skin
  5. Hypotonia

HEART

  1. Ventricular Septal Defect (VSD)

Cuccurollo 4th Edition Chapter 10 Pediatrics pg730 Table 10-1

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2
Q

List 4 indications for genetic counseling “when raise the suspension of any syndrome?” 🔑

A

MATERNAL

  1. Advanced maternal age (>35 years)
  2. Possible teratogenic exposure or other abnormalities of pregnancy

FAMILY

  1. Positive family history of birth defects or retardation
  2. Parent or sibling affected with known or suspected genetic disorder

BABY (look & development)

  1. Dysmorphic child
  2. Child with birth defects and/or developmental delay/mental retardation

Cuccurollo 4th Edition Chapter 10 Pediatrics pg730

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3
Q

Closure of fontanels? Mention the normal growth increments. 🔑

A

Posterior fontanelle

  • Closes by 4 months

Anterior fontanelle

  • Closes between 10 and 18 months

Weight

  • BW x2-3-4 by 4-12-24 months

Cuccurollo 4th Edition Chapter 10 Pediatrics pg731

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4
Q

At birth, the average full-term infant has five secondary ossification centers. Mention them

A

Knee and Subtalar Joint

  1. Distal end of the femur
  2. Proximal end of the tibia
  3. Talus
  4. Calcaneus
  5. Cuboid.
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5
Q

What is the earliest markers of abnormal neurological maturation? 🔑🔑

A

💡 During the first 6 to 8 months of life as the CNS matures, these primitive reflexes are gradually suppressed.

Persistent primitive reflexes

Cuccurollo 4th Edition Chapter 10 Pediatrics pg731

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6
Q

Photo of supine infant, head rotated right, right arm extended, left arm flexed

(a) what primitive reflex (b) when does it disappear?

A

Reflex:Asymmetric tonic neck reflex (ATNR).

Disappear by 6-7 months

Cuccurollo 4th Edition Chapter 10 Peds 790-791

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7
Q

Primitive Reflexes that disappears at 6 weeks, 3 months, 6 months 🔑🔑 Dr. Haitham

A

BEFORE AND BY 6 MONTHS

  1. Automatic neonatal walking (3-4m).
  2. Positive supporting (3-5m).
  3. Galant
  4. Rooting (4m).
  5. Moro (4-6m).
  6. Palmar grasp (5-6m).
  7. Tonic labyrinthine (4-6m).

AFTER 6 MONTHS

  1. Asymmetric tonic neck reflex (ATNR) (6-7m).
  2. Symmetric tonic neck reflex (TNR) (6-7m).
  3. Plantar response (1-2yrs).

Ref: Cuccurullo pg 779.

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8
Q

Describe the following Primitive reflexes 🔑🔑

A

Cuccurollo 4th Edition Chapter 10 Peds 790-791

Braddom 6th Edition Chapter 2 Examination of the Pediatric Patient pg50

Braddom 6th Edition Chapter 47 Cerebral Palsy pg1011

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9
Q

List 4 physiologic postural reflex responses. 🔑🔑 MOCK Dr. Haitham

A

💡 Delays or absent in CNS immaturity or damage

  1. Head righting: Align head vertical, mouth horizontal
  2. Head and body righting: Align body parts in anatomic position relative to each other and gravity
  3. Parachute reflex: Extension/abduction of lateral extremity toward displacement to prevent falling.
  4. Equilibrium or tilting reactions: Adjustment of tone and posture of trunk to maintain balance.

Cuccurollo 4th Edition Chapter 10 Pediatrics pg732 Table 10-2

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10
Q

What is the leading cause of death in children > 1 year of age?

A

TBI.

10/100,000 die per year in US from TBI.

Second most common is leukemia.

Ref: Cuccurullo pg 755.

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11
Q

Of the two most common malignant bone tumours in children

Which one has a predilection for the metaphysis

Which one has a predilection for the diaphysis?

A
  1. Ewing sarcoma - Diaphysis and flat bones (eg pelvis).
  2. Osteosarcoma - Metaphysis (distal femur > proximal tibia > proximal humerus)

Ref: Cuccurullo pg 754.

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11
Q

What is the most common type of malignancy in children?

A
  1. Leukemia (30%).
  2. CNS tumours (19% - second most common).

Ref: Cuccurullo pg 753.

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12
Q

What is the most common presentation for Hodgkins lymphoma in children?

A

Painless cervical adenopathy.

Ref: Cuccurullo pg 753.

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13
Q

What tumour in children arises from the sympathetic ganglia and adrenal medulla?

What age group does it usually affect?

A

Neuroblastoma.

2 years old has highest incidence. Usually affects children < 5 years old.

Ref: Cuccurullo pg 754.

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14
Q

What are the 3 most common causes of abdominal masses in children?

A

💡 Think kidneys: mass, tumor, adrenals, fluids

  1. wilm’s tumour (nephroblastoma)
  2. neuroblastoma
  3. hydronephrosis

Ref: Cuccurullo p754

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PassPMR - 09 Pediatrics (5 decks)

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