Dysmorphology

Question 1

Genetic vital signs

Answer 1

1. Height
2. Weight
3. Head circumference

Plot on growth chart over time

Question 2

Microcephaly

Answer 2

Small head —> sign of abnormal brain growth…since usually the head growths with the brain

Question 3

Eye measurements

Answer 3

Hypotelorism = eyes too close together

Hyper = eyes too far apart

Question 4

Hallmark sign of fetal alcohol syndrome

Answer 4

Palpebral fissure length

Question 5

Three things to consider when evaluating

Answer 5

1. Ethnic background
2. Familial features
3. Compare bilateral structure

Question 6

If a patient has 2+ anomalies

What should be done?

Answer 6

A chromosomal analysis…

A microarray is better to pick up small abnormalities compared to karyotyping

Question 7

Smith-Lemli-Opitz Syndrome

Answer 7

Defect in cholesterol metabolism in the growing fetus

From a single gene mutation that cause multiple congenital anomalies

Question 8

Categories of anomalies

Answer 8

1. Sequence
2. Dysplasia
3. Disruption
4. Deformation
5. Association

Question 9

‘Sequence’

Answer 9

One anomaly leads to other developmental anomalies

Exs: POTTERS and Prune Belly

Question 10

POTTERS

Answer 10

P=pulmonary hypoplasia
O=oligohydramnios
T=twisted skin
T=twisted face
E=extremity abnormalities
R=renal agenesis

**posterior urethral valve blockage can cause this

Usually don’t live past a few days…hard to ventilate

Question 11

Prune belly syndrome

Answer 11

Results from an enlarged structure in the abdomen that stretches skin…probably ureters

Eventually regresses but skin remains stretched

Symptoms = flat face and club foot deformity

Question 12

Dysplasia

Answer 12

INTRINSIC developmental abnormality…usually demonstrates in defective cellular org.

Ex: skeletal dysplasia = achondroplasia

Teratogens = FAS

Histology = mis organization of the zones of bone formation

Question 13

Disruption

Answer 13

Interruption of normal development caused by EXTRINSIC force

So will be asymmetric

ex: amniotic band limb reduction

Question 14

Deformation

Answer 14

Anomaly caused by EXTRINSIC force (not a loss of structure)

Ex: clubfoot

Any fetal disorder that prevents movement in utero can lead to limb deformation
—> CNS, muscle disease,oligo

Question 15

Association

Answer 15

An exclusion diagnosis…described by a non-random pattern of associated features

VATER(L) and CHARGE

Question 16

VATER(L)

Answer 16

V=vertebral
A=anal atresia
T/E=TEF
R=renal/radial
L=cardiac and limbs

Question 17

CHARGE

Answer 17

C=coloboma of iris or retina
H=heart
A=atresia choanae
R=regression of growth 
G=gentalia
E=ears

Question 18

Multiple hair whirls =

Answer 18

Neural tube defects

Question 19

Radial ray defects (thumb and index finger)

Answer 19

Greater significance to genetic problems

Question 20

OMIM

Answer 20

Database you search when trying to diagnose

Always search most rare symptoms presenting

Question 21

Midline cleft = sign of what

Answer 21

Very rare

Predicts major failure of brain to divide into 2 normal halves (holoprosencephaly)

Severe will die within days

Question 22

Synophyrs

Answer 22

Unibrow,

Predicts brain defects

Question 23

Trisomy 13

Answer 23

Has holoprosencephaly

Question 24

Characteristics of achondroplasia

Answer 24

1. Frontal bossing
2. Anti-verted nares, flattened nasal bridge
3. Trident hand deformity, fingers are grouped in 3

Question 25

Lysosomal storage disease (general)

Answer 25

Progressive

Head is large relative to thorax

Flat bones

Skeletal dysplasia - progessive after birth

Flat broad ribs

Question 26

Diabetic embryopathy

Answer 26

Teratogen example

Macrosomia, neural tube defects

Question 27

Thalidomide embryopathy

Answer 27

Sever limb reduction

Question 28

Methylmercury embryopathy in Japan

Answer 28

Very neurally fucked

Question 29

Folate deficiency when pregnant

Answer 29

Moms get folic acid now in pre-natal vitamins