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Quilling

Publik·8 anggota
Ethan Gonzalez
Ethan Gonzalez

Celebrities With Cri Du Chat [HOT]


Evie Bowden-Ayres was born with a missing piece of her fifth chromosome, one of the 23 pairs of chromosomes that contain our genes. Cri du Chat syndrome is a rare genetic disorder that affects between 25 to 40 babies in Britain each year.




Celebrities With Cri Du Chat



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The 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder. In children with this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health problems. These problems may range from heart defects and developmental delays to seizures. The child may also have changes in how the eyes, nose, or ears look. Or the child may have an opening in the roof of the mouth (cleft palate). Most children with the syndrome only have some of the health problems. In general, many of the health problems can be treated, especially if they are found early.


Some children with the syndrome had been diagnosed with a form of Opitz G/BBB syndrome or Cayler cardiofacial syndrome in the past. Healthcare providers now know that these disorders all share the same genetic cause as 22q11.2DS.


About 1 in 4,000 people have 22q11.2DS. But some experts believe this number is higher. Some parents who have a child with this chromosome problem may not know it because the symptoms are less severe.


But a person with the condition can pass it on to his or her children. About 1 in 10 cases are inherited from the mother or the father. When the condition is inherited, other family members could also be affected. A person who has this chromosome deletion has a 1 in 2 chance of passing the problem to a child. So both parents can have their blood studied to look for the deletion.


Speech and digestive specialists. They will look at any feeding problems. Some children with the syndrome have severe feeding problems. They need tube feedings in order to get enough nutrition.


Low calcium. This is common in children with the syndrome, especially right after birth. But it can also happen during times of stress, such as during puberty or after surgery. Your child may need to take calcium and vitamin D supplements.


Development problems. Young children with 22q11.2DS may be slow to meet developmental milestones. These include sitting, walking, and talking. The International 22q11.2 Deletion Syndrome Foundation recommends that parents consider physical therapy (PT), occupational therapy (OT), and speech therapy for their child. PT strengthens large muscles and helps children meet developmental milestones. OT focuses on small muscles used for tying shoes, buttoning clothes, and other tasks. It can also help with feeding problems. Speech therapy can help your child with language delays.


A small number of children with severe heart defects and immune system problems caused by 22q11.2DS will not survive the first year of life. But most children with the syndrome who get treatment will survive and grow into adulthood. These children will likely need extra help throughout school. They may also need long-term care for their health needs.


Telecanthus (rare plural: telecanthi) represents an increased intercanthal distance. It is often used interchangeably with hypertelorism, referring to increased distance between the eyes.


Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.[3]


Because hypertelorism is an anatomic condition associated with a heterogeneous group of congenital disorders, it is believed that the underlying mechanism of hypertelorism is also heterogeneous. Theories include too early ossification of the lower wings of the sphenoid, an increased space between the orbita, due to increasing width of the ethmoid sinuses, field defects during the development, a nasal capsule that fails to form, leading to a failure in normal medial orbital migration and also a disturbance in the formation of the cranial base, which can be seen in syndromes like Apert and Crouzon.[3]


The standard procedure (box osteotomy) was modified by Jacques van der Meulen and resulted in the development of the facial bipartition (or median faciotomy).[7][8]Facial bipartition first involves splitting the frontal bone from the supraorbital rim. Then the orbits and the midface are released from the skull-base using monoblock osteotomy. Then a triangular shaped piece of bone is removed from the midline of the midface. The base of this triangular segment lies above the orbita and the apex lies between the upper incisor teeth. After removing this segment it is possible to rotate the two halves of the midface towards each other, thus resulting in reduction of the distance between the orbits. It also results in leveling out the V-shaped maxilla and therefore widening of it.Because hypertelorism is often associated with syndromes like Apert, hypertelorism is often seen in combination with midface dysplasia. If this is the case, facial bipartition can be combined with distraction osteogenesis. The aim of distraction osteogenesis of the midface is to normalize the relationship between orbital rim to eye and also normalize the position of zygomas, nose and maxilla in relation to the mandible.[9]


To create an acceptable aesthetic result in the correction of orbital hypertelorism, it is also important to take soft-tissue reconstruction in consideration. In this context, correction of the nasal deformities is one of the more difficult procedures. Bone and cartilage grafts may be necessary to create a nasal frame and local rotation with for example forehead flaps, or advancement flaps can be used to cover the nose.[3]


As with almost every kind of surgery, the main complications in both treatments of hypertelorism include excessive bleeding, risk of infection and CSF leaks and dural fistulas. Infections and leaks can be prevented by giving perioperative antibiotics and identifying and closing of any dural tears. The risk of significant bleeding can be prevented by meticulous technique and blood loss is compensated by transfusions. Blood loss can also be reduced by giving hypotensive anesthesia. Major eye injuries, including blindness, are rarely seen. Visual disturbances can occur due to the eye muscle imbalance after orbital mobilization. Ptosis and diplopia can also occur postoperatively, but this usually self-corrects. A quite difficult problem to correct postoperatively is canthal drift, which can be managed best by carefully preserving the canthal tendon attachments as much as possible. Despite the extensiveness in these procedures, mortality is rarely seen in operative correction of hypertelorism.[3]


One of the initial symptoms parents may notice is abnormally slow growth, both in the womb and after birth. Many people with Jacobsen syndrome will be shorter than average at their adult height. They may also have macrocephaly, or a larger-than-average head size. Trigonocephaly is another common symptom. This gives the forehead a pointed look.


Many people with Jacobsen syndrome will have cognitive impairment. This can translate to delayed development, including the development of both speech and motor skills. Some infants will have difficulty feeding. Many will also have learning disabilities, which may be severe.


Most cases of Jacobsen syndrome are not inherited. Only between 5 and 10 percent of cases occur when a child inherits the disorder from an unaffected parent. These parents have genetic material that is rearranged but still present in chromosome 11. This is called balanced translocation. If Jacobsen syndrome is inherited, parents have a slightly higher risk of having another child with the condition.


Bleeding disorders are a serious but common complication of Jacobsen syndrome. About 88 percent of children with Jacobsen syndrome are born with Paris-Trousseau syndrome. This is a bleeding disorder that makes you bruise easily or bleed a lot. This can put you at a risk for internal bleeding. Even nosebleeds or blood work can result in heavy blood loss.


Gastrointestinal problems commonly affect infants with this condition. Pyloric stenosis causes forceful vomiting because of a narrowed or blocked outlet from the stomachs to the intestines. Other common problems include:


Because some children with Jacobsen syndrome are immunodeficient, they may be much more susceptible to infections. Ear and sinus infections are especially common. Some children will have such severe ear infections they may get hearing loss.


The life expectancy of children with this condition is unknown, but individuals can and have lived into adulthood. Many adults with Jacobsen syndrome can live happy, fulfilling, and semi-independent lives.


The BBC Radio 2 presenter's sister, who suffers with severe learning difficulties as a result of a rare genetic condition named Cri du Chat, was taken to hospital last week after an outbreak at her Northamptonshire care home.


She added: "I hope the vaccine is reaching more and more of those with Learning Disabilities. Not everyone has been as lucky as us. So many have died or are suffering from long Covid because they were simply not protected. We need to show them that they are not forgotten and we care.


"Covid has brought with it further complications. We're now dealing with worrying diabetes and high blood pressure issues and my parents are exhausted beyond belief. It's so hard observing from behind a visor and mask, helpless doesn't cover it."


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