The Severity Of HPE

Decent Essays
The clinical features vary very much, depending on the severity of HPE. It is consists of a spectrum of defects or malformations of the brain and face. At the most severe end of this spectrum are cases involving serious malformations of the brain, malformations so severe that they often cause miscarriage or stillbirth. At the other end of the spectrum are individuals with facial defects which may affect the eyes, nose, and upper lip- and normal or near-normal brain development. Seizures and mental retardation may occur (3-

Related Documents

  • Improved Essays

    Additional problems include heart murmurs, birthmarks, hernias, and urinary tract abnormalities (5). Consequently, many children with F.A.S.D.s have stunted growth rates as an infant and a child such as below average height and weight (5). These growth deficiencies include retarded growth of the heart, eyes, legs, arms, teeth, ears, palate, and external genitalia (2). As you can see fetal alcohol spectrum disorders specific features are largely related to the head including the most prominent of all, microcephaly (2).…

    • 1909 Words
    • 8 Pages
    Improved Essays
  • Improved Essays

    Hydrocephalus Signs

    • 302 Words
    • 2 Pages

    Signs and Symptoms Symptoms of hydrocephalus differ with age, disease development, and individual variations in acceptance to the illness. For instance, a child's capability to compensate for enlarged CSF pressure and extension of the ventricles varies from a grown-up's. The infant skull can enlarge to accommodate the buildup of CSF because the sutures (the fibrous joints that attach the bones of the skull) have not yet closed. In infancy, the clearest sign of hydrocephalus is frequently a fast growth in head circumference or a strangely big head size.…

    • 302 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    It can cause many facial deformities and tooth abnormalities of which are not able to be observed for long, due to the short life span of those who have them. In the case of those who are born with one central eye, they are not storybook characters, just another victim to…

    • 1292 Words
    • 6 Pages
    Improved Essays
  • Improved Essays

    Cri du chat Syndrome Cri du chat syndrome is an uncommon genetic condition that is caused by missing genetic material on chromosome 5. Specifically a part on the small arm (p) of chromosome 5 is absent. The disorder occurs in 1 in 20,000 to 50,000 live births according to the US National Library of Medicine. What causes this to happen is currently unknown.…

    • 844 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Hutchinson-Gilford progeria syndrome (HGPS), also referred to as Progeria, was first discovered in 1886 by Jonathan Hutchinson. Later in 1194, it was named by Hastings Gilford (“About Progeria”). The name of the syndrome comes from the word geras, which is a Greek word that translates into “prematurely old” (Gosia, Mehual M, et al. 27). Segmental progeroid syndromes are syndromes in which the individuals who are affected show characteristics of premature, accelerated aging (Ramirez, C L, et al. 155). Other progeroid syndromes like Hutchinson-Gilford progeria syndrome that manifest themselves at different ages include Cockayne syndrome, Emery-Dreifuss syndrome, Werner Syndrome, Seckel Syndrome, Rothmund-Thompson syndrome, and Wiedemann-Rautenstrauch…

    • 816 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    This disease is caused by missing enzyme phenylalanine hydroxylase, an…

    • 404 Words
    • 2 Pages
    Improved Essays
  • Great Essays

    Hurler's Syndrome

    • 1142 Words
    • 5 Pages

    Hurler’s syndrome, also known as Mucopolysaccharidosis I, or MPS 1, is a genetic disorder that causes dwarfism, hepatosplenomegaly, or the enlargement of the liver and spleen, progressive mental retardation, restricted joint movement, an enlarged tongue,restricted joint movement, degenerated eyesight, hearing loss, very prominent eyes and and forehead, a recessed nasal bridge, and gapped teeth. Due to the deformities seen in the face, the disease has also been referred to as “gargoylism”. In addition to all of this, death by the age of ten years old is very common. The disease is quite rare, only being present in about one in one hundred thousand newborn babies.…

    • 1142 Words
    • 5 Pages
    Great Essays
  • Improved Essays

    Multiple Sclerosis: The Psychological Effects of Parental MS on Adolescents and Children Jessica Houge Greenville Technical College Abstract This paper defines multiple sclerosis and explores three articles that report on the behavioral and emotional psychological effects of adolescents who have a parent with multiple sclerosis (MS). The articles vary from professional studies to personal documentation.…

    • 815 Words
    • 4 Pages
    Improved Essays
  • Decent Essays

    Cyclopia Research Paper

    • 484 Words
    • 2 Pages

    Cyclopia is a malformation that involves a lack of splitting of the single eye field into two bilateral eye fields and is typically accompanied by a non-functioning proboscis dorsal to the eye. This malformation is typically caused by a deficiency in midline shh signaling from the brain in which there is an incomplete cleavage of prosencephalon into the left and right hemispheres which occurs sometime between the 18th and 28th day of gestation. The primary defect is the lack of forebrain tissue which is impacted by a lack of sonic hedgehog signaling which causes the facial defects. During the 4th week of gestation, the neural tube gives rise to the three primary brain vesicles prosencephalon, mesencephalon, and rhombencephalon. In the 5th week of gestation, the prosencephalon divides into the telencephalon and…

    • 484 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    Fetal Alcohol Syndrome (FAS) is thought to be one of the leading causes of birth defects. When a woman consumes alcohol during pregnancy, the alcohol passes from her blood to the baby’s blood through the umbilical cord and causes the baby to “drink” the alcohol also. The baby breaks down the alcohol more slowly than the mother does, and therefore the alcohol remains in the baby’s blood longer. Drinking alcohol during a pregnancy can cause miscarriage, stillbirth, and FAS in the child. Since the baby’s brain is constantly developing, alcohol exposure at any time during pregnancy can cause damage to the central nervous system.…

    • 727 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Angelman Syndrome is a genetic disorder that causes developmental disability, sever speech impairment and neurological problems. It also causes sever intellectual disability, frequent laughter and smiling, problems balancing and walking, jerky movements, sleep problems and possible seizures. Many children who have this syndrome also have microcephaly. The syndrome is caused by an inactivation or deletion of genes and is named after Harry Angelman, a British pediatrician who described the syndrome in 1965. Currently there is not a cure for Angelman syndrome, however there is treatment for the symptoms.…

    • 135 Words
    • 1 Pages
    Improved Essays
  • Improved Essays

    HF Progressive Syndrome

    • 226 Words
    • 1 Pages

    It is important to emphasise that HF is a chronic and progressive syndrome, in which adjustments and modifications in lifestyle are very important. Many patients consider themselves healthy and show little adherence to orientations given by the medical team until they present the first HF decompensation episode. The initial approach with a HF patient should not include all of the aspects regarding the complexity of HF treatment. Nurses must have the ability to evaluate individual needs of each patient and proceed with the education method based on his/her previous level of knowledge about the disease, on his/her school level and also on cognitive functions(3, 5). It is conventionally assumed that when patients learn about their disease they…

    • 226 Words
    • 1 Pages
    Improved Essays
  • Superior Essays

    Physical abnormalities such as short palpebral fissures, a smooth philtrum, and a thin upper lip are very common. (Rosett HL. A clinical perspective of the fetal alcohol syndrome. Alcohol Clin Exp Res.…

    • 1428 Words
    • 6 Pages
    Superior Essays
  • Great Essays

    Chief Complaint Follow up on new onset seizure. History Patient is a 58-year-old right-handed white male who presents with his ex-wife for followup after inpatient evaluation for new onset seizure. I did review the H&P and discharge summary, the initial neurology consult done by Robin Kass, MD and my follow up notes. I also reviewed the EEG report and reviewed the scans myself.…

    • 901 Words
    • 4 Pages
    Great Essays
  • Improved Essays

    This is a rare dominant prion disease of the brain. It is caused by a mutation to the protein PRPC. FFI has no cure and continues to worsen. After being diagnosed, the life span is around 18 months. These diseases have some things in common.…

    • 1206 Words
    • 5 Pages
    Improved Essays