Week 1

Question 1

HPI is often abbreviated as ?

Answer 1

OPQRST (onset, pain, quality, radiation (does symptom move anywhere), associated symptoms, timing

Question 2

What are the main developmental milestones (roll, sit, crawl, walk, speak)?

Answer 2

• Rolling at 3-4 months
• Sitting (unassisted) at 6 months
• Crawling at 9 months
• Walking at 1 year
• First word at 1 year
• Two word phrases at 2 years

Question 3

What is ectrodactyly?

Answer 3

split hand/foot malformation

Question 4

Describe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC)

Answer 4

• split hand/foot malformation
• missing hair
• cleft lip w or w/o cleft palate
• dry skin, some w hyperkeratosis
• can have GU or eye abnormalities too

due to TP63 mutation; AD

And so this all arises bc of abnormalities in structures that arise form the ectoderm (outermost layer of embryo) that affect skin, hair, nails, and teeth

Question 5

Describe Rapp Hodgkin syndrome

Answer 5

• anhidrotic ectodermal dysplasia (sweat glands not producing sweat)
• nail dystrophy think of pic comparing to EEC
• cleft lip and/or palate
• coarse and wiry hair
• small mouth
• narrow nose
• oligodontia or anodontia
• conical teeth

TP63 mutation; AD

Question 6

What are the pediatric findings in Cowden syndrome?

Answer 6

• OK, so we learned this syndrome in cancer class bc is due to PTEN mutation that inc risk for breast, thyroid, and endometrial cancer
• Macrocephaly
• Autism/Dev Delay
• Derm findings:
• –> trichilemmomas (benign tumors of hair follicles - think of “tric”ked you, “lemme” look at your hair)
• –> papillomatous papules (white papules in mouth)
• –> penile freckling
• Vascular findings:
• –> hemangiomas
• –> arteriovenous malformations

Question 7

What is synophris?

Answer 7

fusion of eyebrows/unibrow

It’s a “syn” “Oph”elia did not have a unibrow

Question 8

Describe deformation

Answer 8

• external factor produces some kind of abnormal shape

- pressure or restriction of movement (ex: oligohydramnios like plastic wrap - too tight)

Question 9

Describe plagiocephaly

Answer 9

• infant’s soft skull is flattened in an area; v treatable

- type of deformation

Question 10

Describe torticollis

Answer 10

• infant neck muscles contract, and the head twists towards one side

Question 11

Describe disruption

Answer 11

• interruption to developmental process

- ex: vascular interruption, teratogen, amniotic band

Question 12

How can thalidomide (immunomodulator) act as a teratogen?

Answer 12

• can affect developing limbs
• binds to CRBN and inhibits its ubiquitin ligase activity
• ex: phocomelia

Question 13

Describe Subclavian Artery Supply Disruption Sequence (so what is blocked and what phenotype results)

Answer 13

• mostly sporadic
• there are 4 rare familial forms too though; AD and AR
• it depends on where we block off the artery
• block axillary artery –> isolated pectoralis major absense/breast hypoplasia
• block brachial artery –> terminal transverse limb defect
• block start of subclavian artery –> Sprengel
• block vertebral artery –> Klippel Feil
• block development of 6th and 7th cranial nerves –> Moebius

Question 14

Contrast Klippel Feil with Sprengel Anomaly

Answer 14

• KF = non-separation/fusion of cervical vertebrae –> very short neck with extremely limited movement
  (“klip”ped the mobility of the neck)
• Sprengel = shoulder blade is too high on one side and abnormally connected to spine; limits movement
  (SSS: Sprengel-Shoulder-Spine)

both = subclavian artery disruption anomalies

Question 15

Describe Moebius

Answer 15

• disruption disorder
• bilateral facial and abducens nerve palsies
• facial paralysis (they are not able to emotionally communicate using facial features, cannot show a smile)
• appear cross-eyed

Question 16

Describe Poland syndrome

Answer 16

• absence of pectoralis, usu unilateral
• breast hypoplasia
• missing limbs
• Sprengel anomaly
• terminal limb defects

Question 17

Describe hemifacial microsomia

Answer 17

• disruption disorder
• one side of the face is underdeveloped
• facial asymmetry
• microtia

Question 18

Describe Goldenhaar syndrome

Answer 18

under umbrella of craniofacial microsomia

• disruption disorder
• facial asymmetry
• microtia or anotia
• epibulbar dermoid
• spinal abnormalities (including Klippel Feil or scoliosis)

Question 19

Describe malformation

Answer 19

• when the genetic instructions are incorrect and lead sto birth anomaly

Question 20

Contrast atrophy with hypoplasia

Answer 20

• atrophy = begins as normal structure and shrinks over time
• hypoplasia = inadequate growth of structure to begin with

Question 21

Describe Pierre Robin sequence

Answer 21

Characterized by:

• small mandible
• tongue displaced posteriorly = glossoptosis
• tongue blocking fusion of palate –> cleft palate is common
• (severe cases —> tongue blocks formation of larynx)

Question 22

Describe the malformations and deformations present in Pierre Robin sequence

Answer 22

• the small mandible can be genetically determined –> malformation
• tongue blocking palate and possibly larynx –> deformation

Question 23

What are the 2 most common disorders with Pierre Robin sequence?

Answer 23

1. Stickler syndrome (25% PRS)

2. Deletion 22 syndrome

Question 24

What does VACTERL stand for?

Answer 24

V - vertebral 
A - anorectal malformation 
C - cardiac 
T - tracheo-esophageal atresia/fistula
E - ear anomaly 
R - renal anomaly 
L - limb (radial ray/thumb side)