FUTURE DIRECTION & SUMMARY
DIAGNOSIS Apert Syndrome; is a developmental malformation autosomal dominant condition. The abnormalities of AS manifest during development therefore symptoms are attributed to these visible malformations. The characteristic appearance of the face, hands and feet are clear give-a-ways of Apert Syndrome.[4] Moreover,
Ultrasounds during the gestation period are a great source of diagnosis as syndactyl of the hands and feet appear during the 14-18th week which grants both patients and specialists tiem to plan the best course of action. Nevertheless, a definite diagnosis of AP can be established from DNA analysis after birth or prenatally by a fetoscopy. A fetoscopy is a procedure that is conducted on pregnant women with a high possibility of giving birth to a baby with birth defects. Performed in the 18th week of pregnancy, blood & skin sample is taken and tested for diseases, also generally health of baby is evaluated. Comes with a 12% miscarriage rate, [24] |
TREATMENT
Patients with Apert’s syndrome, require a multidisciplinary approach from a team of Orthodontists, Oral and maxillofacial, and surgical subspecialists. To ensure the success of operations, they commence at an early age. From 6-13 months, craniosynostosis surgery is performed, aiming to separate the sutures of the skull to allow enough space for the brain to expand properly. Concurrently syndactyly surgery is undertaken to release the fingers, increasing the functionality of the hand and foot. [8-9]Between 7-10 years, LeFort III Osteotomy takes place to correct the growth failure of the midface involving the jaw, nose and check bones. At 10 years> Orthodontic treatment & orthognathic surgery occurs to rectify the malocclusions and overcrowding of the mouth t. Regardless of the countless operation and the physical toll it takes on the patients, psychological and physiological improvements are noted. Furthermore, if the operations are undertaken at the recommended stages, mental retardation can be reduced significantly resulting in the infant growing up and maturing as a normal human being.
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SUMMARYDespite the short life expectancy and degenerative lifestyle caused by Apert syndrome, through various intensive surgical procedures, the lifestyle and morphological features of the person can be drastically ameliorated. The 2 sources of the mutation at S252W or P253R of the fibroblast growth receptor 2, will serve as an ongoing guide for future research as geneticists and researches alike will strive to discern more precisely how the mutations arise and a viable means of belaying it.
In terms of new treatments, the continued amelioration of craniosynostosis surgery and Le Fort Osteotomy is a ongoing practise. Due to the drastic nature of the operations surgeons and specialists are trying to find new ways of reducing the impact it has on the child at such a young age. What many specialist recommend is having DNA-based prenatal diagnoses to check if the chance of Apert Syndrome can be passed onto the offspring. Nevertheless, scientist and researchers are persuing the role of Noggin. As seen in many mice models Noggin has reduced the occurrence of early suture fusion and has been seen as a key player in FGFR2-FGF interaction. |