IMAGe syndrome (OMIM 300290) is a rare multisystem disorder that has a broad phenotypic presentation. [ncbi.nlm.nih.gov]

The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. [orpha.net]

KEYWORDS: stroke Eagle syndrome Case presentation A 43-year-old man presenting with transient right limb weakness was sent to the emergency department. He had a history of recurrent episodes of ischaemic stroke in the left cerebral hemisphere. [rcpjournals.org]

• Sepsis

  The most common complications tend to be sepsis (an inflammatory reaction in your whole body), trouble breathing because fluid builds up in your lungs, or many organs that stop working. [webmd.com]

  More than half of the identified patients died before 2 years of age owing to invasive infection including sepsis, meningitis, and fungal infections [10, 11]. [bmcmedgenet.biomedcentral.com]

  […] lupus erythematosus (SLE) drug toxicity cisplatin cyclophosphamide 10 interferon erythropoietin tacrolimus cyclosporine azathioprine L-asparaginase filgrastim 15 ustekinumab 17,18 bone marrow or stem cell transplantation solid organ transplantation sepsis [radiopaedia.org]

  If the event occurred during hospitalization and if wide fluctuations in BP occurred with hypotension followed by rebound hypertension (eg, sepsis), the baseline BP was defined as the minimum BP value preceding the event. [ajnr.org]

• Anemia

  Laboratory investigations showed moderate anemia and severe hypercholesterolemia. [link.springer.com]

  Fetal hydrops may be caused by: Heart problems Metabolic disorders Anemia Infections Genetic syndromes Twin-to-twin transfusion syndrome is another possible cause of hydrops. The fluid buildup will likely be seen and diagnosed during an ultrasound. [share.upmc.com]

  Thrombocytopenia and anemia resolved spontaneously 1 month after birth, with the counts maintained over 300,000/mm3 and 10 g/dL, respectively. [bmcmedgenet.biomedcentral.com]

• Recurrent Infection

  The presence of recurrent invasive infection or chronic diarrhea suggests MIRAGE syndrome [10, 11]. [bmcmedgenet.biomedcentral.com]

• Aspiration

  COMMENTARY Some products are what marketers refer to as “aspirational.” [wbur.org]

  This causes anorexia in aspiring larger teens. This causes people to say that thin is not beautiful, and promote curves. This causes problems as well. Everybody knows the original problem. Girls of all sizes decide they are too fat. [mibba.com]

  Iceland is not alone in its aspirations to create a “Down syndrome-free” world. [lifesitenews.com]

  […] or stenosis can be difficult to diagnose Images of Choanal Atresia or Stenosis 50%-60% Factsheet about Cranial Nerve Abnormalities Factsheet about Swallowing and Feeding I – Missing or decreased sense of smell 90-100% IX/X – Swallowing difficulties, aspiration [chargesyndrome.org]

  We need the psychological abuse of children to be properly outlawed – a long-awaited “Cinderella law” came into force last month, but it is weak – and we need to ask the rich and aspirational to think again before they put their children into care. [theguardian.com]

• Pneumonia

  Among the precipitating factors are drugs (NSAIDs, sulphonamides, penicillins) but also infectious agents as mycoplasma pneumoniae, yersinia or other viruses and bacteria. synonyms Stevens-Johnson Syndrome, Erythema Exsudativum Multiforme, Major Form, [dermis.net]

  Enzymatic Degradation of Urinary Indoxyl Sulfate by Providencia Stuartii and Klebsiella Pneumoniae Causes the Purple Urine Bag Syndrome. J Clin Microbiol 1988;26:2152-2156. Lin C, Huang H, Chien C, et al. [bjmp.org]

  He was treated for recurrent bacterial infections including MSSA bacteremia, tracheitis, pneumonia, and presumed meningitis, as well as tracheitis/pneumonia with enterobacter, chyseobacterium, and acinetobacter. [degruyter.com]

  An infection, like pneumonia or the herpes virus that causes cold sores, can also trigger SJS. This happens more often with kids than adults. [webmd.com]

  The pneumonia and sepsis exacerbated and the patient died of septic shock at 4 months of age. The patient’s karyotype performed at age one month was 46, XY without any chromosomal structural abnormality. [bmcmedgenet.biomedcentral.com]

• Respiratory Distress

  Significant respiratory distress/respiratory failure out of what is expected for gestational age has also been described in previous cases [1, 8]. [degruyter.com]

  The lungs may be underdeveloped (hypoplastic) and most newborns experience severe breathing complications after birth (respiratory distress). [rarediseases.org]

  Other clinical features are preterm delivery, respiratory distress syndrome, and frontal bossing [11]. Chronic diarrhea with colonic dilatation was observed in almost all patients in previous reports [10, 11]. [bmcmedgenet.biomedcentral.com]

  Feeding difficulties These are caused by a combination of the small mandible, the position of the tongue, respiratory distress, and cleft palate. [emedicine.medscape.com]

• Failure to Thrive

  Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as "failure to thrive". [williams-syndrome.org]

  A few individuals do not have adrenal crisis, but rather milder adrenal insufficiency, presenting with failure to thrive and recurrent vomiting. [ncbi.nlm.nih.gov]

• Hyperpigmentation

  Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity. [ncbi.nlm.nih.gov]

  Physical exam noted skin hyperpigmentation, prominent/broad forehead, small jaw, low-set ears, short extremities, and no palpable testes. Positive-pressure ventilation (PPV) was required from birth. [degruyter.com]

  Although hypotension and hyponatremia are usually present at diagnosis, hyperpigmentation and (usually mild) hyperkalemia occur inconsistently, and their absence should not rule out the diagnosis. [academic.oup.com]

  Subsequently, the patient’s serum electrolytes, ACTH level, and blood pressure normalized, and the skin hyperpigmentation also showed improvement. [bmcmedgenet.biomedcentral.com]

  keratoses, and telangiectases Hyperpigmentation and onychodystrophy Onycholysis (Onychodystrophy) Ulcer Chronic radiation ulcer Tissue necrosis Skin cancer Submit pictures for use in the gallery Cutaneous Radiation Injury - Introduction (YouTube - 2 [remm.hhs.gov]

• Macrocephaly

  Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid [ncbi.nlm.nih.gov]

  […] with autism 20159109 RIN2 MACS syndrome (macrocephaly, alopecia, cutis laxa and scoliosis) 19631308 RNF135 Overgrowth and macrocephaly 17632510 SETD2 Overgrowth and macrocephaly 24852293 STRADA PMSE syndrome (polyhydramnios, megalencephaly, symptomatic [web.labmed.washington.edu]

  Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia [orpha.net]

  Low set ears Lowset ears [ more ] 0000369 Metaphyseal dysplasia 0100255 Micromelia Smaller or shorter than typical limbs 0002983 Muscular hypotonia Low or weak muscle tone 0001252 5%-29% of people have these symptoms Global developmental delay 0001263 Macrocephaly [rarediseases.info.nih.gov]

  Figure 2: Relative Macrocephaly, Triangular Face, Frontal Bossing, Down Turning Corner Of The Mouth Discussion Silver Russell syndrome was first described in 1953 by Silver et al. and has clinically and genetically heterogeneous disease characteristics [omicsonline.org]

• Low Set Ears

  The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. [orpha.net]

  […] more ] 0001511 Low-set ears Low set ears Lowset ears [ more ] 0000369 Metaphyseal dysplasia 0100255 Micromelia Smaller or shorter than typical limbs 0002983 Muscular hypotonia Low or weak muscle tone 0001252 5%-29% of people have these symptoms Global [rarediseases.info.nih.gov]

  The patient had intrauterine growth restriction (IUGR) and dysmorphic features comprising small, low-set ears, micrognathia, bilateral cryptorchidism, micropenis, and skeletal abnormalities. Signs of adrenal insufficiency occurred at aged 4.6 years. [ncbi.nlm.nih.gov]

  Some affected individuals have distinctive facial features, such as a prominent forehead, low-set ears, and a short nose with a flat nasal bridge. [ghr.nlm.nih.gov]

• Frontal Bossing

  The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. [orpha.net]

  Figure 2: Relative Macrocephaly, Triangular Face, Frontal Bossing, Down Turning Corner Of The Mouth Discussion Silver Russell syndrome was first described in 1953 by Silver et al. and has clinically and genetically heterogeneous disease characteristics [omicsonline.org]

• Cryptorchidism

  In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. [orpha.net]

  He presented with IUGR, primary adrenal insufficiency with adrenal crisis in the neonatal period, dysmorphic facies, and bilateral cryptorchidism. [degruyter.com]

  The patient had intrauterine growth restriction (IUGR) and dysmorphic features comprising small, low-set ears, micrognathia, bilateral cryptorchidism, micropenis, and skeletal abnormalities. Signs of adrenal insufficiency occurred at aged 4.6 years. [ncbi.nlm.nih.gov]

Experts recommend that a medical workup for memory loss or other cognitive changes always include questions about an individual's alcohol use. [alz.org]

It's very important to have a dry eye workup and treatment, if necessary, from an eye doctor who has an interest in this disorder and has kept up to date on the latest diagnosis and treatment methods. Refractive surgery. [allaboutvision.com]

Prenatal findings of IUGR and shortened long bones should prompt consideration of IMAGe syndrome and possible postnatal workup for adrenal insufficiency before symptoms manifest. [degruyter.com]

Clinical Testing and Workup A routine specialized imaging technique called a fetal ultrasound may detect Potter syndrome before birth. [rarediseases.org]

A basic workup should therefore include a complete blood cell count with differential, serum protein electrophoresis, and immunoelectrophoresis. Table 2. [eyewiki.aao.org]

• Delayed Bone Age

  Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia [orpha.net]

  Imaging findings Metaphyseal and/or epiphyseal dysplasia, mesomelia, osteopenia, gracile long bones, and delayed bone age on radiographs Note: Skeletal abnormalities, which are age dependent, can be absent or subtle. [ncbi.nlm.nih.gov]

• Hyponatremia

  Classic biochemical signs include hyponatremia, hyperkalemia, hypoglycemia, and ketonemia or ketonuria. [academic.oup.com]

  Adrenal crisis, presenting with hyponatremia, hyperkalemia, and life-threatening hypotension, can occur within the first month of life, typically within the first week; extremely elevated ACTH levels, frequently above 1000 pg/mL (normal 10-60 pg/mL), [ncbi.nlm.nih.gov]

Diplopia treatment Generally, treatments for double vision can include surgery, vision therapy, prism in the glasses prescription or medications. [allaboutvision.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

OI is one such rare genetic condition where treatment is available in the form of bisphosphonates, which has a huge impact on quality of life. [books.google.com]

Prompt surgical treatment if it is diagnosed early is the key to successful management. Treatment is to relieve the pressure; if symptoms are severe or prolonged, surgery may be needed. [medicinenet.com]

Surgical resection of the overgrown styloid process could be the more definitive treatment and lead to long-lasting symptom relief.4 © Royal College of Physicians 2022. All rights reserved. [rcpjournals.org]

Given the possible antenatal presentation and prognosis associated with OI, it is important to make this diagnosis early and be able to distinguish this from other lethal skeletal dysplasias. [books.google.com]

Prognosis Sézary syndrome usually spread to other organs fast and prognosis in general is poor containing a median survival of about 2 to 4 years, although the survival chances have increased with newer treatments. 24% of 5-year survival rate had been [syndromespedia.com]

*Adapted from references A-16, E-4, H-3, H-4 top of page Prognosis of Cutaneous Radiation Syndrome Prognosis of Cutaneous Radiation Syndrome (CRS)* Syndrome Grade Severity Prognosis 1 Mild Recovery likely 2 Moderate Recovery likely without significant [remm.hhs.gov]

There is currently no cure for Marfan syndrome; however, careful management of the condition can improve a patient’s prognosis and lengthen the life span. [hopkinsmedicine.org]

Treatment and prognosis Management is supportive, with discontinuation of any offending medication, gradual lowering of blood pressure, and antiseizure medications if appropriate 20. [radiopaedia.org]

This study of 103 patients reported only 28% non-CAH etiologies, of which 45% were autoimmune causes ( 7 ) ( cf. our series with 52% of patients having non-CAH etiologies and 55% of those with autoimmune causes). [academic.oup.com]

However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. [books.google.com]

Genomics 71: 174-181 Hitchins MP, Stanier P, Preece MA, Moore GE (2001) Silver-Russell syndrome: a dissection of the genetic etiology and candidate chromosomal regions. [omicsonline.org]

Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients with adrenal hypoplasia. [bmcmedgenet.biomedcentral.com]

Radiopaedia has images of cauda-equina cases caused by different etiologies. Cauda Equina Overview AAOS Cauda Equina page [aans.org]

The epidemiology of Sjogren's syndrome. Clinical Epidemiology. July 2014. Prevalence and predictors of Sjogren's syndrome in a prospective cohort of patients with aqueous-deficient dry eye. British Journal of Ophthalmology. December 2012. [allaboutvision.com]

The Centre will closely monitor the global situation, conduct epidemiological assessment, and update the information accordingly. [chp.gov.hk]

Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999. Popul Health Metr. 2007;5:4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1894780/ Khatami F. Potter’s Syndrome: a study of 15 patients. [rarediseases.org]

Journal of Clinical Epidemiology 51, no. 2 (February 1998): 147-158. Gravholt, C.H., et al. "Prenatal and Postnatal Prevalence of Turner's Syndrome: A Registry Study." British Medical Journal 312, no. 7022 (January 6, 1996): 16-21. Zinn, A.R., D.C. [encyclopedia.com]

OIS has important systemic implications, as disease of the common (CCA) or internal (ICA) carotid arteries may cause ipsilateral ocular signs and symptoms that in turn could herald a cerebral infarction. [4] Epidemiology and Pathogenesis Ocular ischemic [eyewiki.aao.org]

In this article, a brief explanation of the pathophysiology, classification, and treatment options for patients with ACS will be introduced. [pubs.rsna.org]

Other postulated pathophysiology suggests that the cause of the chronic conjunctivitis is poor apposition of the lax upper eyelid to the globe with inadequate spreading of the tear film. [eyewiki.aao.org]

Cutaneous Radiation Injury (CRI) Clinical continuum of pathophysiological reactions of the skin and skin appendages to significant levels of ionizing radiation Differences between CRS and CRI CRI need not occur in the context of ARS. [remm.hhs.gov]

Regardless, these subtle changes in quantitative ADC maps indicate that the pathophysiology of this phenomenon may be more global than previously thought. [ajnr.org]

Prevention of Middle East Respiratory Syndrome (MERS) for Properties Management Public Functions Guidelines on Prevention of Middle East Respiratory Syndrome for Participants of Public Functions Guideline on Prevention of Middle East Respiratory Syndrome [chp.gov.hk]

Surgery to correct deficiencies can not only help your child achieve a more normal appearance, but can also prevent an unusual closing of the skull that could hamper brain development. [craniofacial.net]

Prevention Prevention or reduction of the vision problems associated with CVS or digital eyestrain involves taking steps to control lighting and glare on the device screen, establishing proper working distances and posture for screen viewing and assuring [aoa.org]

Can Charles Bonnet syndrome be prevented? It’s not certain why some people experience phantom images but others don’t. [healthdirect.gov.au]

Infants who receive a heart transplant will need to take medicines for the rest of their lives to prevent their body from rejecting the new heart. References Mai CT, Isenburg JL, Canfield MA, et al. for the National Birth Defects Prevention Network. [cdc.gov]