Genetic disorders, birth defects and structural deformities

Chapter 1 Genetic disorders, birth defects and structural deformities



Case 1.1



1. What is the name of this condition?

Talipes equinovarus (aka ‘clubfoot’).


2. Why does it occur?

Occasionally the disorder occurs in conjunction with other pathologies, such as myelomeningocoele. The exact pathogenesis of the idiopathic and isolated condition is unknown, but a number of theories exist. However, factors which may contribute to the development of talipes equinovarus include: imbalances between muscles, defective cartilage with ligamentous laxity, an abnormal position of the foetus in utero, and central nervous system anomalies.[1]


3. What are the possible consequences if untreated?

It predisposes the individual to plantar fasciitis, metatarsalgia, heel spurs or talonavicular pain.



Case 1.2



1. What condition(s) may he be referring to?

Hypospadias (ventral position of urethral opening) or epispadias (dorsal position of urethral opening). Hypospadias is much more common than epispadias. It is often accompanied by a curvature of the penis (called a ‘chordee’) and an incomplete formation of the foreskin.


2. How does it affect urination?

Hypospadias often has no effect on urination, but if more severe, voiding can be difficult. A poor urinary stream may be evident, and it may be difficult to urinate from a standing position.


3. What are the possible consequences of the untreated disorder?

If mild, there are usually no consequences. If more severe, there may be:


• continual difficulties with voiding

• the erect penis may be ‘bent’ which in later years may make intercourse difficult

• cosmetic considerations.


Case 1.3



1. What is the name of this condition?

Cleft palate.


2. Why does it occur?

Essentially, there is a problem with the fusion of two processes which will form the palate. A multifactorial aetiology is suggested. There are a number of different inheritance patterns, and the possibility of teratogenic effects from alcohol and other external influences have been described.


3. What problems will be experienced by the infant until a repair can be done?

Difficulty in feeding is the usual problem, as it makes the formation of an adequate oral seal with the breast or the teat of a bottle more challenging.


4. Is it more severe if it is bilateral?

The severity of the disorder depends on many factors. It is not simply dependent on whether the cleft is unilateral or bilateral, but also on the structures affected by the failed fusion. Clefts may be found in the hard palate, and/or soft palate and/or uvula.


5. What other condition can it occur with?

Cleft lip.



Case 1.4



1. What is the name of this condition?

Talipes calcaneovalgus.


2. Why does it occur?

It is usually caused by extensor tendon contracture or a bony deformity.


3. What are the possible consequences if untreated?

It predisposes the individual to plantar fasciitis.



Case 1.5



1. What is the most likely disorder that the infant has been diagnosed with?

The most likely diagnosis is Tetralogy of Fallot. There is also the possibility that another, rarer, cyanotic congenital heart disorder may be the diagnosis.


2. Explain the major pathological features of this disorder

It is characterised by the following pathological changes:


• ventricular septal defect

• pulmonary stenosis

• right ventricular hypertrophy

• an over-riding aorta (the origin of the aorta is deviated to the right).

There is obstructed blood flow from the right ventricle into the pulmonary trunk (pulmonary stenosis), and thus excessive workload is placed on the right ventricle, subsequently leading to right ventricular hypertrophy. The defect between the two ventricles (ventricular septal defect) provides a passage for blood to flow from an area of higher pressure to lower pressure. Due to the pulmonary stenosis, the pressure on the right side of the heart is greater than that on the left. This creates a ‘right to left’ shunt. Depending on the size of the septal defect and the pressure differences, much of the blood will hence bypass the lungs, and thus remain de-oxygenated. Dyspnoea and cyanosis results.


3. How does this disorder compare clinically with other types of congenital heart disease?

Congenital heart disorders are classified as either cyanotic or acyanotic.





Cyanotic


Cyanotic (ie: right to left shunt): causes cyanosis and dyspnoea. Usually fatal unless corrected.










Eisenmenger complex A septal defect with pulmonary hypertension, thus pressure is greater on the right side
Transposition of great vessels Aorta arises from right ventricle, pulmonary trunk from left ventricle, and there is no communication between systemic and pulmonary circulation (except if there are additional cardiac defects)


Acyanotic


Variable presentation — a murmur is present but the patient may be symptomless. The level of dyspnoea varies with the type of defect and its severity. It does not usually cause cyanosis, unless the individual exercises excessively, or there is an additional pathological process present (eg: cardiac failure or pulmonary infection).
















With left to right shunt  
VSD (ventricular septal defect) Abnormal communication between left and right ventricles
ASD (atrial septal defect) Abnormal communication between left and right atria
Patent ductus arteriosus Persistence of the ductus arteriosus (connects aorta and pulmonary trunk in the pre-natal period) after birth

















With no shunt  
Co-arctation of the aorta A narrowing of the aorta, usually distal to the left subclavian artery
Pulmonary stenosis A narrowing of the pulmonary valve orifice
Congenital aortic stenosis A narrowing of the aortic valve orifice
Dextrocardia Heart located in the right, rather than the left side of the thorax

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Dec 26, 2016 | Posted by in MANUAL THERAPIST | Comments Off on Genetic disorders, birth defects and structural deformities

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