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Mild Dysmorphic Features


Presentation

  • We present a 56-year-old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb[ncbi.nlm.nih.gov]
  • Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention.[books.google.de]
  • Inactivation was associated in most instances to methylation of the CpG sequences in genes containing CpG islands, but was also present in CpG islandless genes.[ncbi.nlm.nih.gov]
  • Part A DOI: 10.1002/ajmg.a.33395 We present a 56-year-old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found[semanticscholar.org]
  • Furthermore, we have discovered that he has some relatives presenting similar features on his mothers side.[ashg.org]
Thrombosis
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.de]
Hypoplastic Nails
  • nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).[unboundmedicine.com]
Prominent Nasal Root
  • The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal[unboundmedicine.com]

Workup

  • Urine analysis, urine for reducing substances, renal ultrasound, a metabolic workup (acyl carnitine and amino acid profile, urine organic acids, and uric acid), TSH, free T4, erythrocyte sedimentation rate, C-reactive protein, tissue transglutaminase[healio.com]

Treatment

  • Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention.[books.google.de]
  • Kenneth Aitken demystifies the umbrella term 'autism' by alphabetically listing these conditions along with information about how commonly they occur, their causes, signs and symptioms, and, for many, appropriate methods of treatment and management.[books.google.de]
  • Read More Related Topics: Diagnosis of body dysmorphic disorder Body dysmorphic disorder causes Mild bilateral renal pyelectasis Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment.[practo.com]
  • Management and treatment Management includes surgical treatment of the cataracts, and rehabilitation and corrective orthopaedic surgery for the peripheral neuropathy.[orpha.net]
  • Further treatment If treatment with both CBT and an SSRI has not improved your BDD symptoms after 12 weeks, you may be prescribed a different type of SSRI or another antidepressant called clomipramine.[nhs.uk]

Prognosis

  • Diagnosis and Prognosis: This complex condition in most cases requires a multidisciplinary team for diagnosis and care. There is no treatment for the general condition but physical therapy and special education may be helpful.[disorders.eyes.arizona.edu]
  • Prognosis Thus, the most disabling manifestations, though not curable, are manageable, and allow an acceptable quality of life and everyday living. Current data indicate that patients survive well into adulthood.[orpha.net]
  • […] mapped. 1,5 Additionally, it is generally believed that speech delay is mapped to the distal part of 5p15. 4,5 Thus, it appears that deletion of a small region proximal to 5p15.3 coincides with milder degree of cognitive impairment and with much improved prognosis[healio.com]

Etiology

  • In addition, possible etiological effects of 15q11.2 BP1-BP2 duplication in neuropsychiatric disorders are proposed.[ncbi.nlm.nih.gov]
  • Etiology CCFDN is a genetically homogeneous condition in which all patients are homozygous for the same ancestral mutation in the CTDP1 gene.[orpha.net]
  • In addition, possible etiological effects of 15q11.2 BP1-BP2 duplication in neuropsychiatric disorders are proposed. * Section of Neurology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City,[journals.lww.com]
  • She was referred to an FTT clinic and they agreed with the previous assessments regarding the etiology of the FTT.[healio.com]
  • The American College of Medical Genetics 7 recommends testing, regardless of family history, for all males and females with mental retardation of unknown etiology.[aafp.org]

Epidemiology

  • […] shows that the notion of a single condition known as 'autism' is no longer tenable, and challenges current trends in the diagnosis and management of these behaviours as a homogenous group by drawing on recent research into brain function, genetics, epidemiology[books.google.de]
  • Summary Epidemiology To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed.[orpha.net]
  • Epidemiology Fragile X syndrome, the phenotype associated with full mutation, occurs in approximately one in 4,000 men and one in 6,000 to 8,000 women.[aafp.org]
  • Epidemiology, cytogenetics and clinical features. Hum Genet . 1978;44:227–275. doi:10.1007/BF00394291 [CrossRef] Marinescu RC, Mainardi PC, Collins MR, et al. Growth charts for Cri-du-Chat syndrome: an international collaborative study.[healio.com]
  • It is even mentioned in mens soccer cleats hers in a small Rochester area community would begin a process that would shake the world of epidemiology in the United States.[turismolosmonegros.es]
Sex distribution
Age distribution

Prevention

  • Can Body Dysmorphic Disorder Be Prevented? There is no known way to prevent BDD. However, it might be helpful to begin treatment in people as soon as they begin to have symptoms.[webmd.com]
  • Meditation and other “mind-body” practices can help increase self-esteem, self-worth and self-compassion, which are important for preventing body image issues and anxiety.[draxe.com]
  • Exposure and response prevention are two key processes involved in cognitive-behavioral therapy.[psycom.net]
  • The excessive self-focus prevents them to see other aspects of their appearance (Phillips, 2005). 3. Aesthetic sensitivity. Individuals with BDD believe that their appearance is highly important (Neziroglu, et al., 2008).[psychologytoday.com]
  • CBT for treating BDD will usually include a technique known as exposure and response prevention (ERP). This involves gradually facing situations that would normally make you think obsessively about your appearance and feel anxious.[nhs.uk]

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