a_Genetics > 11/3- Dysmorphic Features > Flashcards

11/3- Dysmorphic Features Flashcards

(47 cards)

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1
Q

What is dysmorphology?

A

The study of human congenital malformations (birth defects), particularly those affecting the anatomy (morphology) of the individual.

May be:

  • Facial
  • Skeletal
  • Anatomical
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2
Q

What are some causes/reasons for dysmorphisms?

A
  • Malformation: structural defect due to abnormal embryonic or fetal development
  • Deformation: abnormality caused by physical stress to normal tissue
  • Disruption: alteration of normally forming structures by extrinsic process
  • Dysplasia: abnormal development/organization of cells or tissues
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3
Q

What are some ground rules for dysmorphic features?

A
  • Everyone has at least 1 dysmorphic feature.
  • Most genetic syndromes have several dysmorphic features involving more than one system.
  • It’s the constellation of findings that makes the diagnosis
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4
Q

Where to start with the evaluation of dysmorphic features?

A
  • Height
  • Weight
  • FOC
  • Shape
  • Proprotions
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5
Q

Head size is a key feature of what disorder?

A

Achondroplasia

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6
Q

What is the definition of macrocephaly?

A

FOC > 98th percentile

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7
Q

What is Rhizomelic short stature?

A

Disproportionate short stature

  • Short proximal segments of limbs

(The opposite is mesomelic; disproportionate short stature with short distal segments of limbs)

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8
Q

What is the definition of microcephaly?

A

FOC < 2nd percentile

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9
Q

What syndromes is microcephaly seen in?

A
  • Rubinstein Taybi syndrome (left)
  • Seckel syndrome (right)
  • Others
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10
Q

Microbrachycephaly is seen in what condition?

A

Down syndrome

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11
Q

Label the sutures

A

Think about the deformities that would occur if a suture closes too early

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12
Q

What is brachycephaly?

A

Short AP length of skull

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13
Q

What is dolichocephaly?

A

Long AP length of skull

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14
Q

What is trigonocephaly?

A

Triangular-shaped skull

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15
Q

What is turricephaly?

A

Tall head

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16
Q

What is craniosynostosis? What condition is it seen in?

A

Apert syndrome

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17
Q

What are the criteria for determining if the ears are low set?

A
  • Draw a line from medial canthi and extend across to the ears
  • This line should cross the superior attachment of the ear
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18
Q

What is one condition with low set ears?

  • Other clinical associations
A

Noonan syndrome

  • Also associated with heart defects
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19
Q

What is Branchio Oto Renal Syndrome?

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A

Something to consider if your patient has dysmorphic ears

20
Q

What is hypertelorism? Hypotelorism?

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A

Hypertelorism is eyes being set too far apart; hypotelorism is too close

  • Normal distance between eyes should be equal to width of 1 eye
21
Q

What is telecanthus?

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A

Inner canthal distance is much closer to interpupillary distance than it should be (?)

22
Q

What to consider with Waardenburg syndrome?

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A
  • Did patient pass the newborn hearing screen?
  • Is your patient’s speech and language on target?
  • May have heterochromia
23
Q

What is seen here?

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A
  • Close-set eyes
  • Cleft
  • Not much midface

This indicates holoprosencephaly

  • Trisomy 13
  • Pt could have a translocation (if so, one parent could be a translocation carrier and this may affect subsequent births)
24
Q

Describe these palpebral fissures

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A
  • Left: downslanting palpebral fissures (Noonan syndrome)
  • Right: upslanting palpebral fissures (Down syndrome)
25
What are the abnormalities seen in these eyes? What are the associated syndromes/clinical features?
- Top left: **Coloboma** - Top right: **Lisch nodules** (neurofibromatosis) - Bottom left: **heterochromia** (Waardenburg's syndrome; hearing loss) - Bottom right: **Brushfield spots** (Down's syndrome)
26
What ocular abnormalities are seen here? What are the associated diseases/clinical features?
- Top left: **Epibulbar dermoid** (Goldenhar syndrome) - Top right: **slate-grey sclera** (Osteogenesis imperfecta) - Bottom: **leukocoria** (retinoblastoma)
27
What is seen here? Seen in what condition?
Tubular nose - May be seen in Velocardiofacial syndrome (del22q11.2); look for family history
28
What is seen here? Seen in what condition?
Anteverted nares - May be seen in Smith-Lemli-Opitz syndrome (AR)
29
What conditions are associated with mouth, philtrum, and chin changes?
- Prader-Willi Syndrome (short philtrum?) - Cornelia de Lange Syndrome - Fetal alcohol syndrome (long, smooth philtrum; thin upper lip) - Fragile X syndrome (big chin)
30
Types of cleft lip?
- Unilateral incomplete - Unilateral complete - Bilateral complete
31
Types of cleft palate?
- Incomplete cleft palate - Unilateral complete lip and palate - Bilateral complete lip and palate
32
If cleft palate + micrognathia (small chin), think of what?
Stickler syndrome (AD)
33
If cleft palate + micrognathia + antiverted nares, think what?
Smith Lemli Opitz syndrome (AR)
34
if cleft palate + tubular nose + small ears, think what?
Deletion 22q11.2 (Velocardiofacial syndrome?)
35
If cleft palate + holoprosencephaly, think what?
Heterogeneous etiology
36
What else should be considered if tongue is very large?
If pt is hyoglycemic
37
What should be considered in pt with a bifid uvula?
Pt could have aortic dissection (Loeys Dietz syndrome)
38
Broad necks are seen in what conditions? What medical co-morbidities should be considered?
- Turner's syndrome (45X) with coarctation of the aorta - Noonan's syndrome with pulmonic stenosis
39
What is clinodactyly?
Curved finger (folds are not parallel) because bone is wedge-shaped - Seen commonly in Down syndrome
40
Another feature you may see in the hand of someone with Down syndrome?
Single transverse palmar crease
41
What is syndactyly?
Missing/fused digits (?)
42
What is polydactyly?
Abnormally many number of digits
43
What is oligodactyly?
Abnormally fewer number of digits
44
Other dactylies...
45
What causes this?
Amniotic bands
46
What is seen here?
Club feet (foot unable to be placed flat on floor)
47
What is seen here?
Rocker-Bottom foot (seen in trisomy 13?)
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