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Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

Game-Friedman-Paradice Syndrome


Presentation

  • Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome.[cags.org.ae]
  • What chromosomal disorder(s) can present with delayed or failed sexual maturation? 2. This syndrome presents with a prominent occiput, clenched fists and "rocker bottom feet". What are 2 complications that can cause death in these children? 3.[hawaii.edu]
  • These large calluses may also be present in flat bones [ 55 ].[bmcpediatr.biomedcentral.com]
  • About 10% of individuals with Fryns syndrome also present with genital and urinary abnormalities.[rarediseases.org]
  • Systemic Features: Prominent foreheads are present at birth along with full cheeks and a prominent forehead.[disorders.eyes.arizona.edu]
Physician
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • The physician also must acknowledge that patients often take medications that were not prescribed specifically for them.[pedsinreview.aappublications.org]
  • Your physician may detect Dandy-Walker malformation in your baby with a fetal high-resolution (level II) ultrasound during the second or third trimester.[childrensnational.org]
  • Years Published 1993, 2000, 2002, 2003, 2017 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.[rarediseases.org]
Epilepsy
  • […] such as Asperger’s syndrome; traumatic brain injury (including congenital injuries, such as those that cause cerebral palsy); communication, speech and language disorders; genetic disorders, such as fragile-X syndrome, Down syndrome and Rett syndrome; epilepsy[oregon.providence.org]
  • Synonyms: chromosome 4p deletion syndrome, 4p- syndrome, monosomy 4p syndrome Wolf-Hirschhorn syndrome (WHS) is characterised by learning difficulties, epilepsy, growth delay and craniofacial dysgenesis. [ 1 ] Epidemiology The incidence is estimated at[patient.info]
  • […] syndrome Gemss syndrome Gen-Ger Genée-Wiedemann syndrome Generalized malformations in neuronal migration Generalized resistance to thyroid hormone Generalized seizure Generalized torsion dystonia Genes syndrome Genetic Diseases, Inborn Genetic reflex epilepsy[wikidoc.org]
  • The presence of epilepsy is often reported and concerns 10 to 40% of patients. Immune dysfunctions are also common.[omicsonline.org]

Treatment

  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 1995; 6:368-71 9. Hadi HA, Strickland RT.[books.google.de]
  • Treatments for Dandy-Walker Malformation The main course of treatment for Dandy-Walker malformation is to manage any complications that may arise.[childrensnational.org]
  • Treatment is supportive, but parents may elect to focus on comfort care rather than proceed with extensive treatment and resuscitative measures in a severely affected infant.[hawaii.edu]
  • Exogenous human surfactant for treatment of severe respiratory distress syndrome: a randomized prospective clinical trial. ‎[books.google.es]

Prognosis

  • Prognosis Frequently results in stillbirth or death within the first year. If patients survive beyond infancy, they have slow but constant progress in terms of development.[patient.info]
  • Since there is a wide variety of signs and symptoms, treatment and prognosis for the condition vary greatly from person to person.[rarediseases.org]
  • The management adapted to each case is needed to improve the course and prognosis of these patients.[omicsonline.org]
  • Epidemiology and prognosis of congenital diaphragmatic hernia: a population-based cohort study in Utah. Birth Defects Res. 2017; 109 :1451–9. [ PubMed : 28925604 ] Skari H, Bjornland K, Haugen G, Egeland T, Emblem R.[ncbi.nlm.nih.gov]

Etiology

  • The etiology is an extra X chromosome. The most common chromosomal pattern is 47,XXY, but other variants can occur including 48,XXYY, 48,XXXY, and 49,XXXXY.[hawaii.edu]
  • Prenatal testing is possible where one parent is known to be a carrier of the condition. [ 6 ] Bergemann AD, Cole F, Hirschhorn K ; The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005 Mar21(3):188-95.[patient.info]

Epidemiology

  • Our knowledge of potential risks to the fetus and newborn, therefore, is based on case reports, epidemiologic surveys of exposed individuals, and animal studies.[pedsinreview.aappublications.org]
  • Synonyms: chromosome 4p deletion syndrome, 4p- syndrome, monosomy 4p syndrome Wolf-Hirschhorn syndrome (WHS) is characterised by learning difficulties, epilepsy, growth delay and craniofacial dysgenesis. [ 1 ] Epidemiology The incidence is estimated at[patient.info]
  • Epidemiology and outcome of congenital diaphragmatic hernia: a 9-year experience. Paediatr Perinat Epidemiol. 2011; 25 :144–9. [ PubMed : 21281327 ] Wung JT, Sahni R, Moffitt ST, Lipsitz E, Stolar CJ.[ncbi.nlm.nih.gov]
  • You can help by adding to it. ( October 2017 ) Epidemiology [ edit ] In France, Aymé, et al. (1989) estimated the prevalence of Fryns syndrome to be 0.7 per 10,000 births based on the diagnosis of 6 cases in a series of 112,276 consecutive births ( live[en.wikipedia.org]
  • EPIDEMIOLOGY Noonan syndrome is characterized by marked variable expressivity, which makes it difficult to identify mildly affected individuals. The overall incidence is believed to be between 1/1000 and 1/2500 live births.[flipper.diff.org]
Sex distribution
Age distribution

Prevention

  • When the organs from the abdomen prevent the lungs from growing, the poor lung growth is called pulmonary hypoplasia. Healthy lungs have millions of small air sacs (alveoli), each of which resembles a balloon filled with air.[childrenshospital.org]
  • Prevention Genetic counselling will assess the risk to family members, based on the mechanism of origin of the deletion.[patient.info]
  • These can include omphalocele, where intestines, liver, and other organs develop outside of the abdominal wall, anal malformations, and intestinal malrotation, when intestines are twisted preventing passage of food.[rarediseases.org]

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