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Pictures of children with treacher-collins syndrome
Pictures of children with treacher-collins syndrome
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A case is presented at the hospital of a 2-month-old child, diagnosed with down syndrome, and currently recovering from a case of bronchiolitis. The child, Elisa, is also diagnosed with Tetralogy of Fallot, and she will undergo surgery to correct this defect once she has had time to recover from her bronchiolitis. Elisa is the sixth child or Maria and Hector. She has three brothers and two sisters who range in age from 10 to 25 years old.
Investigator saw Ms. Morgan in jail at the Orleans Justice Center after she was arrested and charged with cruelty to a juvenile. Ms. Morgan admitted to doing ecstasy and xanbars while disciplining her children. She admitted to hitting her daughter in the mouth because she would not shut up and that was getting on her nerves. Dr. Shelia Thompson noted that Thianna had a forensic medical on 7/18/17 and forensic interview on7/13/2017. Dr. Thompson noted during the medical incident history Thianna makes clear disclosure of physical abuse by mom including mom recently punching her a few times in the eye because the patient was crying.
Abraham Lincoln was shown to have a tall/thin build, a long face, and enormous hands and feet. He shares the same symptoms of an individual suffering from Marfan syndrome. Marfan syndrome is a genetic disease that affects the connective-tissue of an individual. The connective tissues help the human body grow and develop by holding cells, organs, and tissues together. This disease is caused by mutations in a gene called “FBN1”.
Professional Fred Hollows was an eye doctor who spent his whole life helping those people who couldn’t afford or have access to basic eye care. He worked really hard to try and end blindness with the goal to improve the health of Indigenous Australians. In Fred’s working career he was a man who was quick to recognise a problem and even quicker to act and find a solution to the issue. One of his quotes is: 'When I 've seen an opportunity, I haven 't sat down and called a committee meeting...
The movie, Wonder, illustrates what life is like for Auggie, a young boy born with major facial deformation, who is starting 5th grade after being homeschooled his entire life. This movie is based off of the book written by R.J. Palacio. The story brings light to Treacher Collins Syndrome, the disease Auggie was born with; his story shares what many others born with the disease face. “Treacher Collins is an extremely rare congenital cranial facial disorder. It affects just one in 50,000 people” (Wonder Boy).
Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s
Case history, oral peripheral exam and hearing screening are necessary components in the assessment process as each provides vital information regarding the child's medical and surgical history as well as current condition of oral structures and functioning of the ear. In addition to providing details regarding medical and surgical history, the case history will also alert the clinician to any previous treatment obtained and its effectiveness. The oral peripheral examination provides the opportunity for the clinician to assess the degree to which structural abnormalities affect the child's physical ability to manipulate the articulators. If a repair of the cleft has already been performed, the clinician should assess the adequacy of the repair (Pena-Brooks & Hegde,
Charles Bonnet Syndrome (CBS) is a form of visual hallucination. Although it is not quite a known disorder worldwide, it affects many people. One may have normal cognition and no psychological ailment but still be diagnosed with Charles Bonnet Syndrome. Also, contrary to popular belief, it is not merely the imagination of the individual affected. Yeager (2013) stated that during the hallucination, insight is still intact; the individual registers that the hallucinations are not real.
Trisomy 18, or Edwards Syndrome, was discovered by a man named John Hilton Edwards in 1960, and is a condition that causes severe developmental delays because of an extra chromosome 18. Edwards was a professor of genetics at Birmingham and Oxford, he first saw Trisomy 18 in stillborn and abnormal babies. Trisomy 18 is the second most common trisomy after Trisomy 21. Trisomy 18 is not inherited, but completely random, it is caused by an error in cell division known as meiotic disjunction. The following essay will go over the signs, symptoms, mutation, and how to make the child with Trisomy 18’s everyday life as normal as possible.
Treacher Collins is considered a disease or a syndrome that effects the growth development of your facial muscles and tissue structure. The disease does not affect your mental health or growth, but will allow humans to look different than others. Sometimes they are severely affected and sometimes it is hardly noticeable. The syndrome is something that is not passed down through sexual reproduction or asexual. Treacher Collins is a disease that is caused from a genetic mutation in the TCOFI, POLRIC, and POLRID gene.
Treatment of the Moebius syndrome patients: Diagnostic procedure and therapeutic approaches call for a multidisciplinary engagement by a team of specialists that includes a pediatrician, a general surgeon, a plastic surgeon, an orthopedic surgeon, an oral and maxillofacial surgeon, an ophthalmologist, an otolaryngologist, occupation and physical therapists, an audiologist, a speech pathologist and a dentist. 13 According to the National Institute of Neurological Disorders and Stroke, National Institutes of Health 37 , there is no specific regimen for treatment of Moebius syndrome patients. Medical care is typically supportive and is related to symptoms. Infants may require feeding tubes or special bottles to maintain sufficient
Sturge-Weber Syndrome, Pediatric Sturge-Weber syndrome is also known as encephalotrigeminal angiomatosis. It is a condition that your child is born with (congenital). Sturge-Weber syndrome affects your child’s nervous system and may cause glaucoma. Glaucoma occurs when there is too much pressure in your child’s eye or eyes due to fluid. CAUSES Sturge-Weber syndrome is caused by genetics.
Imagine having poor eyesight and hearing loss, this is exactly what usher `s syndrome is. Usher`s syndrome weakens its victim’s hearing and eyesight. Usher`s syndrome is genetic which means that is inherited by a child from its parents. The chromosome 3q22.1 of the gene pchd15 is mutated when usher`s syndrome occurs. The symptoms of usher`s syndrome consist of retinitis pigments (which weakens eyesight), hearing loss, blindness during the night, and loss of peripheral vision.
I was born with a rare craniofacial syndrome and have had multiple surgeries to correct my skull. Living with this is difficult especially if you have no one to share the same experiences. Luckily, I have friends nearby that have similar syndromes and scars. I know the importance of supporting one another, so we don’t’ feel alone. I met Hannah while attending a craniofacial retreat.
Does Christopher Boone have Asperger’s Syndrome? Although the author, Mark Haddon, makes a point to never explain Christopher’s condition, it is very clear that he has some form of developmental disorder. Based on the details given in the novel, I have determined that Christopher has Asperger’s Syndrome. Asperger’s is considered a Pervasive Developmental Disorder or Autism Spectrum Disorder that delays the development of many basic skills, especially those related to communication and socialization (WebMD).