Genetic disorders, birth defects and structural deformities

Chapter 1 Genetic disorders, birth defects and structural deformities



Case 1.1


A regular patient on a routine visit brings Adam, her 4-week old son, with her. You notice that his foot appears ‘twisted’. It is held in the inverted position, and passive movement of his foot in the direction towards the front of the leg is very limited. Your patient has already seen her medical practitioner, who told her the name of the condition. Adam’s foot is shown in Figure 1.1.


image

Figure 1.1


(Source: Netter Musculoskeletal System Part 2 medical images no. 93)




Questions



1. What is the name of this condition?

2. Why does it occur?

3. What are the possible consequences if untreated?


Case 1.2


One of your patients informs you that his wife is pregnant. He is concerned that if they have a boy, he may be born with a deformity of the penis, just as he had been. He doesn’t remember its name, and knows that it was corrected when he was still an infant, but wonders if you know the name of it so he can read up about it. The only information he has is that his urethral opening was in the wrong position.




Questions



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

2. How does it affect urination?

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


Case 1.3


A friend has recently given birth, and is distressed due to a condition which has been diagnosed by the paediatrician. Your friend cannot remember its name, but tells you that the problem is an abnormal gap between the oral and nasal cavities. The doctor has stated that it is only unilateral.




Questions



1. What is the name of this condition?

2. Why does it occur?

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

4. Is it more severe if it is bilateral?

5. What other condition can it occur with?


Case 1.4


A patient on a routine visit brings her 2-week old daughter, Julie, with her. You notice that the infant’s foot appears abnormal. Her foot is held in the everted and dorsiflexed position, and passive movement of her foot (as in ‘pointing’ the toes) is severely limited.




Questions



1. What is the name of this condition?

2. Why does it occur?

3. What are the possible consequences if untreated?


Case 1.5


Your patient asks you to explain to her a disorder that her 4-week old niece has just been diagnosed with. Apparently, problems commenced within a few weeks of birth, when it was observed that whenever she cries for any length of time, she becomes a ‘bit bluish’ in colour. She has also started to have difficulty in feeding and breathing.


When examined by the paediatrician, a murmur was heard. Your patient states that her niece needs to have a big operation on her heart.




Questions



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

2. Explain the major pathological features of this disorder.

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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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