Ngd W2 L3

Front 1

What is an anomaly?

Back 1

any abnormal deviation from the expected in structure, form or function

Does NOT
- imply a specific cause
- address brain function

Front 2

Define: Congenital

Back 2

- present at birth
eg clubfoot, polydactyly

Does NOT
- define a cause
- address brain function

Front 3

Pre vs post axial polydacyly?

Back 3

Post = extra toe on pinky side
Pre = extra toe on thumb side

Front 4

How common are congenital anomalies at birth? at one year of life?

Back 4

2-3% at birth
3-5% at one year of life (internal, not obvious at birth ex CHD)

** data from health surveillance registry

Front 5

Features of minor anomalies

Back 5

- 14% of newborns
- usually of NO functional significance
- may be characteristic of certain patterns of anomalies (downs)
- multiple minor anomalies increase risk for major anomaly

Front 6

examples of minor anomalies

Back 6

- ear tag or pit
- single palmer crease
- D5 clindactyl (pinky finger curves)

Front 7

Causes of congenital anomalies

Back 7

- etiologic heterogeneity
- cause cannot be determined by appearance alone
- important to determine whether isolate or part of a more generalized pattern
- ISOLATED anomalies are often (not always) multifactoria
- MULTIPLE congenital anomalies are usually NOT of multifactorial etiology

Front 8

Types of congenital anomalies

Back 8

- malformation
- disruption
- deformation

Front 9

what is a malfomation

Back 9

- primary error of normal development or morphogenesis of organ or tissue
- may have a variety of causes
- abnormal development from EARLY in embryogenesis

Front 10

Examples of malformations

Back 10

- syndactyly (fusion of digits)
- most spina bifida
- most cleft palate
- most congenital heart lesions

Front 11

what is a disruption

Back 11

- morphologic defects resulting from a BREAKDOWN, or INTERFERENCE with an originally normal developmental process
- morphogenesis begins normally but something interferes with it
- can occur at any time
- sometimes called secondary malformations

Front 12

examples of disruptions

Back 12

- extrinsic factors (ex trauma or infection)
- amniotic band disruption (inner membrane ruptures --> strands of amnion --> constrict, tear fetal parts like arm or lip)
- porencephaly (cystic lesion within the brain)

NOT caused by a single gene or chr abnormality

Front 13

What could cause porencephalic cust?

Back 13

- intrauterine infection
- bleeding in grain --> scarring --> cyst

Front 14

what are deformations

Back 14

- abrnomalitiees of form or position caused by NONDISRUPTIVE mechanical forces
- MECHANICAL interferance with normal growth, functioning or position of the fetus in utero
- usually happens in second half of pregnancy
– Can often be treated by mechanical means

Front 15

what may predispose to deformation?

Back 15

constraint:
- First pregnancy
– Uterine malformation
– Unusual fetal positioning (ex breach position)
- Oligohydramnios (not enough amniotic fluid)
– Multifetal pregnancy

Front 16

what is plagiocephaly

Back 16

Diamond shape of the head due to deformation
– One side is more prominent than the other
- Can cause bleeding in the sternocleidomastoid area (portcullis)
Tx: helmet cast

Front 17

Possible treatment for clubfoot?

Back 17

– Botox (paralyzes muscle)
– Surgery
– Cast ( to move them back to place)

Front 18

Patterns of anomalies

Back 18

– Sequences
– Developmental field defects
– Syndromes
– Association

Front 19

What is a sequence anomaly

Back 19

Pattern of multiple anomalies derived from a single structural defect or deformation (cascade of anomalies)

Front 20

oligohydraminos causes?

Back 20

- renal failure ( not enough urine production)
ex polycystic renal disease
- mom ruptured membrane
- obstruction preventing urine from leaving the bladder

Front 21

oligohydraminous sequence

Back 21

If baby unable to make urine, cant make amniotic fluid and the uterus is tight around the baby, smushing the face.
- small chest (lungs do not develop properly due to lack of breathing movement that should start 1/2 through preg breathing in/out amniotic fluid)
- nose smushed flat
- club foot common

Front 22

pierre robin sequence

Back 22

- where the tongue is located forward in the mouth
- poor development of mandible putting tongue in abnormal position
- tongue gets in the way of the palatal shelve coming together
- difficult to ventilate these babies
- tongue often need to be sutured forward

Front 23

myelomeningocoele sequence

Back 23

- spina bifida (starting event)
- legs paralyzed
- club foot

Front 24

What is a developmental field defect

Back 24

Patterns of anomalies resulting from distrubed development of a morphogenic field

Front 25

what is a field?

Back 25

a region of the embryo that develops in a related fashion

Front 26

example of a developmental field?

Back 26

- midline

Front 27

what is holoprosencephaly

Back 27

- developmental field defect
abnormality of midline brain development
- single ventricle
- fusion of thalami
- changes in face appearance
>eyes closely set or only 1 eye
>nose not properly developed
> midline cleft lip

Some are due to trisomy 13

Front 28

what are syndromes?

Back 28

-patterns in which all of the component anomalies are thought to be pathogenically related
-implies a similar etiology in all affected individuals

Front 29

Examples of syndromes

Back 29

- down syndrome (Chromosomal)
- marfan syndrome (single gene, AD)

Front 30

clinical features of marfan syndrome

Back 30

- long and lean appearance
- apectus excavatum/caranatum
- thumb and wrist signs