Congenital Anomalies

Question 1

Define congenital anomalies

Answer 1

Birth defects

Developmental malformation

Question 2

Types of Congenital anomalies

Answer 2

Malformation
Deformations
Disruptions
Sequence
Syndromes

Question 3

Causes of congenital malformations

Answer 3

Gene defects
Chromosomal abnormalities
Multifactoral disorders
Teratogenic agents
Unknown (idiopathic)
Environmental
Congenital infections

Question 4

Discuss Malformations (primary) anomalies

Answer 4

Intrinsically abnormal developmental process
Multifactoral (polygenic)
Affects single or multiple systems

Question 5

Define Malformations (primary) anomalies

Answer 5

A morphological defect of a part of an organ that has resulted from an abnormal development process.

Question 6

Examples of Malformations.

Answer 6

Meckel’s diverticulum
Congenital heart disease
Anencephy

Question 7

When do malformations (primary) anomalies form?

Answer 7

During embryogenesis.

Question 8

Discuss disruption (secondary) anomalies.

Answer 8

Destructions of previous normal organs.
Arise from external disturbances in morphogenesis.
Morphological alterations of structures after formations.
Comes from breakdown or interference with an originally normal developed process.

Question 9

Causes of Disruption (secondary) anomalies caused by environmental/instrinsic factors

Answer 9

Fetal infections
Chemical
Radiation
Hypoxia

Question 10

Examples of Disruption (secondary) anomalies

Answer 10

Congenital infection

Amniotic bands

Question 11

Discuss Deformations

Answer 11

An intrinsic disturbance in morphogenesis mainly due to compression of the fetus by biochemical forces.
An abnormal form, shape, or position of a body part that is present because of abnormal mechanical forces.
Compression can be localized of generalized

Question 12

Underlying causes in Deformation anomalies

Answer 12

Uterine constraint
Maternal factors
Fetal placement factors

Question 13

Examples of Deformation anomalies

Answer 13

Club foot (Congenital Talipes Equinovarus)

Question 14

Classifications of club foot

Answer 14

Positional
Idiopathic
Secondary club foot

Question 15

Which joint is effected in club foot?

Answer 15

Talo-calcaneal-navicular joint (TCN)

Question 16

What does equinus means?

Answer 16

Downward facing

Question 17

What scoring measure is used in club foot?

Answer 17

Pirani score

Question 18

What is the treatment for club foot?

Answer 18

Ponseti method.
Correction phase (manipulations and casts, achilles tendon cut)
Maintenance phase

Question 19

Discuss Sequence anomalies.

Answer 19

A cascade of events triggered by one abnormality.

Question 20

Is the triggers of Sequence anomalies external of internal?

Answer 20

External disturbances

Question 21

Example of Sequence anomalies?

Answer 21

Oligohydramnios->fetal compression->abnormalities of hands and feet, hip dislocations, lung hypoplasia.

Question 22

Causes of oligohydramnios?

Answer 22

Maternal of fetal causes

Question 23

Define Syndrome anomalies

Answer 23

A group of anomalies occurring together with a specific common etiology.

Question 24

Name examples of Syndrome anomalies

Answer 24

Down syndrome
Turner’s syndrome
Klinefelter syndrome

Question 25

Discuss Neural tube defects

Answer 25

Some part of the neural tube or its coverings has not closed. Most common malformation

Question 26

How can a neural tube defect be diagnosed Prenatal?

Answer 26

``` Ultrasound Invasive test (amniocentesis and fetal cord sampling; chorionic villus sampling) Serum screening (Maternal->alpha fetoprotein elevation at 16 weeks) ```

Question 27

Two classifications of Spinal Dysraphism

Answer 27

Open and closed

Question 28

What is Spina Bifida Occulta?

Answer 28

Vertebral (usually lumbosacral) defect with normal cord and membranes. Skin covers the defect; skin might be abnormally pigmented, by a hairy patch or dermal sinus.

Question 29

Describe Meningocele spinal defect

Answer 29

Meningeal sac protrudes through a bony defect and is covered by skin.

Question 30

Describe Meningomyelocele spinal defect

Answer 30

The skin overlying the sac ruptures, exposing the abnormal meninges, nerve roots and abnormal/incompletely formed spinal cord.

Question 31

Define Hydrochephalus

Answer 31

The presence of excessive amounts of CSF within the cranial cavity

Question 32

Discuss hydrochephalus

Answer 32

Usually caused by obstruction of CSF flow with dilation of the ventricular system proximal to the obstruction OR the overproduction of CSF OR the defective reabsorption of CSF

Question 33

Clinical signs of hydrochephalus

Answer 33

``` Macrocephaly Widely separated sutures Huge frontanelles Relatively small face Usually progressive, resulting in intellectual impairment, spastic paraplegia and cerebellar ataxia ```

Question 34

Causes of Hydrochephalus

Answer 34

Arnold Chiari malformation (obstruction of CSF at foramen magnum, usually occurs with spina bifida) Inflammation or haemorrhage, obstruction of aqueduct Sylvius Genes

Question 35

How can hydrochephalus be treated?

Answer 35

Ventricular shunt, one way valve to drain the CSF into the peritoneal cavity.

Question 36

What is Exencephaly?

Answer 36

Brain tissue covered by membranes, only without cranial vault.

Question 37

What is Anencephaly?

Answer 37

Cranial vault is missing, base of the skull is poorly formed; the coverings of the brain fail to develop, developing brain is exposed to amniotic fluid; cerebrum and cerebellum usually absent; base of the skull is usually disorganized brain tissue and blood vessels; cranial end of the neural tube fails to close; Acrania

Question 38

What isEncephalocoele?

Answer 38

Defect of the skull, frequently occipital Usually midline May be syndromic