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Clinical Science > Congenital Anomalies > Flashcards

Congenital Anomalies Flashcards

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1
Q

Define congenital anomalies

A

Birth defects

Developmental malformation

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2
Q

Types of Congenital anomalies

A 
Malformation
Deformations
Disruptions
Sequence
Syndromes
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3
Q

Causes of congenital malformations

A 
Gene defects
Chromosomal abnormalities
Multifactoral disorders
Teratogenic agents
Unknown (idiopathic)
Environmental
Congenital infections
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4
Q

Discuss Malformations (primary) anomalies

A

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

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5
Q

Define Malformations (primary) anomalies

A

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

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6
Q

Examples of Malformations.

A

Meckel’s diverticulum
Congenital heart disease
Anencephy

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7
Q

When do malformations (primary) anomalies form?

A

During embryogenesis.

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8
Q

Discuss disruption (secondary) anomalies.

A

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.

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9
Q

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

A

Fetal infections
Chemical
Radiation
Hypoxia

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10
Q

Examples of Disruption (secondary) anomalies

A

Congenital infection

Amniotic bands

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11
Q

Discuss Deformations

A

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

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12
Q

Underlying causes in Deformation anomalies

A

Uterine constraint
Maternal factors
Fetal placement factors

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13
Q

Examples of Deformation anomalies

A

Club foot (Congenital Talipes Equinovarus)

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14
Q

Classifications of club foot

A

Positional
Idiopathic
Secondary club foot

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15
Q

Which joint is effected in club foot?

A

Talo-calcaneal-navicular joint (TCN)

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16
Q

What does equinus means?

A

Downward facing

17
Q

What scoring measure is used in club foot?

A

Pirani score

18
Q

What is the treatment for club foot?

A 
Ponseti method.
Correction phase (manipulations and casts, achilles tendon cut)
Maintenance phase
19
Q

Discuss Sequence anomalies.

A

A cascade of events triggered by one abnormality.

20
Q

Is the triggers of Sequence anomalies external of internal?

A

External disturbances

21
Q

Example of Sequence anomalies?

A

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

22
Q

Causes of oligohydramnios?

A

Maternal of fetal causes

23
Q

Define Syndrome anomalies

A

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

24
Q

Name examples of Syndrome anomalies

A

Down syndrome
Turner’s syndrome
Klinefelter syndrome

25
Q

Discuss Neural tube defects

A

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

26
Q

How can a neural tube defect be diagnosed Prenatal?

A 
Ultrasound
Invasive test (amniocentesis and fetal cord sampling; chorionic villus sampling)
Serum screening (Maternal->alpha fetoprotein elevation at 16 weeks)
27
Q

Two classifications of Spinal Dysraphism

A

Open and closed

28
Q

What is Spina Bifida Occulta?

A

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.

29
Q

Describe Meningocele spinal defect

A

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

30
Q

Describe Meningomyelocele spinal defect

A

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

31
Q

Define Hydrochephalus

A

The presence of excessive amounts of CSF within the cranial cavity

32
Q

Discuss hydrochephalus

A

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

33
Q

Clinical signs of hydrochephalus

A 
Macrocephaly
Widely separated sutures
Huge frontanelles
Relatively small face
Usually progressive, resulting in intellectual impairment, spastic paraplegia and cerebellar ataxia
34
Q

Causes of Hydrochephalus

A

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

35
Q

How can hydrochephalus be treated?

A

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

36
Q

What is Exencephaly?

A

Brain tissue covered by membranes, only without cranial vault.

37
Q

What is Anencephaly?

A

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

38
Q

What isEncephalocoele?

A

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

Clinical Science (18 decks)

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