Having a child diagnosed with achondraplasia is a horrible sentence to have handed down prior to birth or shortly after. This condition can be diagnoses before birth or after. Ultrasound testing may cause suspicion of the disease. Not all patients look the same. In few cases it is inherited from a parent. Most cases are a surprise. It is caused by a mutation in the gene of one of the parents. Parents with achondroplasia have a 50/50 chance of passing on the gene. There’s a 25% chance for a normal child, a 50% chance for a child with achondroplasia and a 25% chance the child will have two achondroplasia genes. When either or both parents have achondroplasia, prenatal testing is typically done. There are two types of Achondroplasia: homozygous and heterozygous. In homozygous it is termed “fatal” as there rare two copies of the defective gene. There are severe breathing problems and hydrocephalus that lead to an early death. In heterozygous, there is a presence of one copy of the gene. In diagnosis, there are one of two or both types of tests are ordered. In chronic villus sampling or …show more content…
Achondraplasia is the most common form of dwarfism. It does not affect the level of intelligence. According to the Journal of Pediatrics and Child Health, there are three distinguishing features of Achondroplasia: (Ireland, et al., 2013). 1. Achondraplasia is the most common form of short limbed, short stature and is associated with delays in acquisition of gross motor milestones. 2. Children with achondraplasia adopt unusual movement strategies presumed to be linked to the characteristic biomechanical features including macrocophaly and disproportionate short stature. 3. A clear understanding of musculoskeletal factors that influence gross motor development in this group will assist clinicians to provide more specific information to
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.
Tay-Sachs is a rare, inherited, metabolic disease that is caused by a defective gene on chromosome 15. This defect causes the body to not make a protein called hexosaminidase which leads to chemicals building up. These chemicals destroy the nerve cells in the brain and the spinal cord. Tay-Sachs is also called GM2 gangliosidosis, HexA deficiency, Hexosaminidase A deficiency, and Hexosaminidase alpha-subunit deficiency. Tay-Sachs is most common in infants and children.
Treacher Collins syndrome is a genetic disorder that affects the development of craniofacial. It results abnormalities in face and head due to hypoplasia of facial structures such as the lower jaw (mandible), cheekbones and abnormal small chin micrognathia. In addition, some patients with this syndrome are also born with an abnormal opening in the roof of the mouth (cleft palate), but in severe cases, hypoplasia of the facial bones may restrict the infant’s airway of breathing causing life-threatening respiratory
Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.
Case Study 1 – The Endocrine System Christina D’Amico University of Saint Joseph Abstract A fifteen-year-old boy with many hormonal abnormalities starting at the age of eleven suffered from joint pain and swelling along with poor bone growth and development. He broke his left hip and had low levels of testosterone and high levels of growth hormone resulting in gigantism and later acromegaly.
Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays.
achondroplasia (ACH) Achondroplasia (ACH) is a very rare (fewer than 20,000 US cases per year) yet the most common (occurring at one in every 15,000 to one in 40,000 live births) hereditary form of short-limbed dwarfism. Achondroplasia can be inherited from a parent with the disease, however most cases of ACH are because of new mutations in the FGFR3 gene. (Over 80% of people with ACH have parents who are unaffected).
Being born with the condition (congenital defect). RISK FACTORS You may be at greater risk
DEVELOPMENTAL MILESTONES 6 DEVELOPMENTAL MILESTONES Developmental Milestones in a Three Year Old Infant Using the Denver II Developmental Screening Tool Claudia Aguilar Keiser University Normal Development in a Three Year Old Infant According to Brazelton (2001), after surviving the “terrible two’s”, we have to start getting prepared for a preschooler, his constantly “why’s” and all of the magic that comes with this age; starting with the fact that child finally listens to you, paying more attention to what he is being told and letting his imagination fly and run wild. The author mentions different areas where development can be clearly noticed, such as the language area, by the child’s ability to say his or her name and age, also being able
Two of the most common and significant types of short stature are idiopathic short stature (ISS) and growth hormone deficiency (GHD) (Cohen, 2008; Hauffa, 2008). Children and adolescents with short stature often have to face a wide range of problems and challenges
The potential dilemmas between the rights and choices of children and health and safety requirements are that they are entitled to: • Dignity • Safety • Confidentiality • Privacy All children are to be respected in the way that they want to be respected for example if they do not want to be changed on the nappy changing unit but want to be changed on the changing mat on the floor then you need to respect their wish and implement it. All children must be kept safe so you must have everything set up ready like nappy, nappy bag, gloves and wipes before you collect the child for nappy changing time as once they are on the changing bed you cannot move as they may move and fall off. Children may tell you something in confidence but you cannot promise
Physical Development Watson (2012) defines physical development as the process that starts in human infancy and continues into late adolescent concentrating on fine and gross motor development. Fine motor development involves more finely tuned movements such as grasping, building bricks and gross motor development involves larger movements such as walking, climbing, climbing stairs and riding bicycles. In the movie “Yours, Mine and Ours”, when analysing Ethan Beardsley who is four years old, the youngest child of Frank Beardsley; a single father of eight children, Ethan’s fine motor development such as when he was using a chalk when he and Helen North’s youngest were scribbling on Frank’s “Operation Light House” board, he grasped the chalk with ease as the chalk was big. This proves he has acquired the fine motor skill of grasping.
Cystic Fibrosis is a hereditary condition, and for a child to get the disease, they have to get one copy of the defective gene from their mother and their
On Wednesday, March 15th I went to Christ the King to observe a child in preschool. The child I observed was a female and she was four years old. While I was there I observed her physical development, social and emotional development, thinking skills, and communication skills. For physical development, I observed her gross and fine motor skills. Her gross motor skills included her gait, balance, running, and picking up toys.
The infant may develop temporary muscle weakness and associated findings (i.e., transient neonatal myasthenia gravis). The passage of anti-acetylcholine receptor antibodies through the placenta to the unborn child during pregnancy may cause this condition to the infant. Some of the myasthenia gravis is inherited as an autosomal recessive, or more rarely, an autosomal dominant condition is described as congenital myasthenia gravis. The individual that inherits two copies of an abnormal gen for the same trait from each parent, the individual will have recessive genetic disorders. If the individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms.