Durban - Congenital abnormalities/anomalies/birth defects are present at birth and are a result of genetic or non-genetic influences.
While some abnormalities can be prevented, others are hard to detect because they are carried genetically. Other abnormalities can be treated with or without the use of surgery with permission from the parents.
IOL sat down with a professional theatre nurse and a nursing school paediatrics lecturer who worked as a paediatrics nurse before moving on to teach paediatrics. They shared their medical experiences with congenital abnormalities in children.
Strabismus (cross-eye)
Cross-eye is the abnormal alignment of the eyes. One eye deviates from the point of fixation. In constant fixation, the weak eye becomes “lazy”. If the cross-eye is not fixed, it can result in blindness.
A corneal light reflex and the cover test can be used to determine the deviation. In the corneal light reflex test, light is shone directly into the patient's eyes. If the light falls off the centre of the eye, then the eyes are misaligned.
In the cover test, one eye is covered and the movement of the uncovered eye is observed while the child looks at close and distant objects. If the uncovered eye does not move, then it is aligned. But if it moves, then it is misaligned. When covered for a long time, the misaligned eye will attempt to fix itself by fixating on the object.
Syndactyly (fused digits/fingers)
This is a condition where all if not a few fingers are either fully or partially joined by bone, tissue or cartilage.
If treatment is chosen, during surgery, the fingers can be separated. Preferably surgery should be done at an early age. Skin grafts can be used to cover the fingers where there is not enough skin.
Polydactyly (extra digits/fingers or toes)
Extra fingers on the hands or extra toes on the feet either can be removed if treatment is chosen. Extra fingers on the hands are more common than extra toes. In rare situations, some babies are born with both extra fingers and toes.
If treatment is chosen, it can start from as early as birth. When the extra fingers or toes are small and weak, cotton can be tied around it to stop blood circulation. Eventually, the fingers or toes will fall off.
Genu Varum (bowleg)
Bowleg is the sideways bowing of the tibia, where the space between the knees is more than 5cm. It may be congenital or occurr as a result of rickets. Obese children are more at risk of developing bowleg.
In some cases, treatment can be delayed in hopes that the legs will straighten themselves. However, if the abnormality is extreme, an orthopaedic surgeon can be consulted. Bowleg can be treated with the use of braces or surgery to straighten the legs.
Genu Valgum (knock-knee)
Knock-knee is the opposite of bowleg. The knees are closer together and the feet are spread apart. The legs usually straighten themselves.
If treatment is chosen, then knock-knee can be treated like bowleg with braces tostraighten the legs. However, severe knock-knee is the most likely to be treated surgically if the patient experiences pain or difficulty walking.
Ambiguous genitalia
The reproductive organs of a baby are not clear. In this case, the baby can either be male or female.
If treatment is chosen, the newborn is assessed by a team that includes a geneticist, paediatric urologist, endocrinologist, paediatrician and paediatric surgeon to determine the child's gender.
Gender assignment is established following careful evaluation of prenatal and post-natal influences such as chromosomes, anatomic features, surgical possibilities, future fertility and potential sexual functions before surgery.
In some cases, when parents are asked about the gender, they choose the gender they want the baby to be. In rare instances, the child grows up genderless and chooses the gender they want. When others reach puberty, they request gender reassignment.
IOL