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.
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.
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.
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.
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.
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