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Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome

Craniofacial Abnormalities - Cataracts - Congenital Heart Disease - Sacral Neural Tube Defects - Growth and Developmental Retardation


Presentation

  • […] in our patients are invariably present.[jmg.bmj.com]
  • Cardiac conduction defects, pulmonic stenosis, and hypertrophic cardiomyopathy are often (85%) present. Cognitive defects are present in 30% of patients and some individuals have been described as mentally retarded.[disorders.eyes.arizona.edu]
  • A birth defect in which an opening is present in the diaphragm (the muscle that separates the chest cavity from the abdominal cavity).[stanfordchildrens.org]
  • An extra chromosome, specifically an extra number 21 chromosome, present when the egg is fertilized, leads to a baby with Down syndrome.[science.jrank.org]
  • Congenital: Abnormality or problem present at birth. Includes defects detected prenatally and those not recognized until after the newborn period.[mass.gov]
Multiple Congenital Anomalies
  • congenital anomalies MR, mental retardation Neural tube defects are usually multifactorial.[jmg.bmj.com]
  • At CONCEPTION the ZYGOTE thus ends up with three instead of the normal two copies of chromosome 21, which ultimately produces multiple congenital anomalies.[beltina.org]
  • Fryns Syndrome Fryns syndrome is an autosomal recessive disorder with multiple congenital anomalies (Table III) 15. Table III.[iame.com]
Fishing
  • Chromosomes, FISH for microdeletion 22q11, very long chain fatty acids, urine organic acids and oligosaccharides, mucopolysaccharide screen, and carbohydrate deficient glycoprotein testing have all been normal. Subtelomeric FISH and SKY were normal.[jmg.bmj.com]
  • Environmental Chemicals • Mercury • Fish, seed corn sprayed with mercury containing fungicide • Multiple neurological symptoms • Lead •  abortions • Growth retardation • Neurological disorders 36.[slideshare.net]
Short Arm
  • The child who has this condition will be slow at walking and sitting because of his short arms and legs, and this may be interpreted as mental retardation. However, these individuals have normal intelligence.[science.jrank.org]
  • arm of chromosome 8 (8p23) and many other, less recurrent regions of the genome, as shown by high resolution genome-wide screening ( Array comparative genomic hybridization ). [17] The genes regulating the complex developmental sequence have only been[en.wikipedia.org]
Lordosis
  • A spine x ray at 5 years of age showed multiple compression deformities of the spine resulting in thoracolumbar dextroscoliosis, thoracic kyphosis, and lumbar lordosis.[jmg.bmj.com]
Lacrimation
  • No external lacrimal system anomalies were present.[jmg.bmj.com]

Workup

Delayed Bone Age
  • A spine x ray at 2 years of age showed mild, generalised decreased bone density and borderline delayed bone age.[jmg.bmj.com]
Delayed Bone Age
  • A spine x ray at 2 years of age showed mild, generalised decreased bone density and borderline delayed bone age.[jmg.bmj.com]

Treatment

  • Guidelines 2006 CDC 77 Snells Neuroanatomy 6th Ed 78 Surgical and Mechanical Treatment of Peripheral Nerves by Byron Stookey 79 Tabers Cyclopedic Medical Dictionary 80 Textbook of Biochemistry with Clinical Correlations by Devlin 5th Ed 81 Textbook of[books.google.com]
  • Treatment Treatment Options: Visually significant cataracts may be removed.[disorders.eyes.arizona.edu]
  • Down Syndrome children – symptoms and treatment Rate this post[beltina.org]
  • You are here Home » Rashtriya Bal SwasthyaKaryakram : A Free Health Checkup & Treatment in Schools &Aganwari going Children of Gomati District, Tripura To ensure healthy lives and promote well-being for all at all ages, free of cost health screening is[health.tripura.gov.in]

Prognosis

  • It may be conducted by a geneticist, a doctor with special training or a genetic counselor, who will explain the cause of a disorder, availability of testing, prognosis, medical management and treatment.[childrenshospital.org]
  • Identification of fetal arrhythmias may help identify high-risk pregnancies as transplacental medical therapy can improve the prognosis of some fetal arrhythmias. [7] Finally, identification of congenital heart abnormalities may be associated with reduced[emedicine.medscape.com]
  • The overall prognosis, i.e. normal development to severe disability, appears to be similar with a complete absence of the vermis and inferior vermian agenesis 4,11. The liveborn mortality rate among fetuses with DWM is approximately 40% 4.[iame.com]
  • Risk factors Rubella infection during pregnancy , alcohol or tobacco , parents being closely related, poor nutritional status or obesity in the mother [3] [5] Treatment None, catheter based procedures , heart surgery , heart transplantation [6] [3] Prognosis[en.wikipedia.org]

Etiology

  • It is also suggested that environmental factors might play an important role in etiology of congenital heart defects.[bmcpregnancychildbirth.biomedcentral.com]
  • MGS is the most common syndromic etiology for neural tube defects; accounting for 5% of neural tube defects. Approximately half of families with more than one child affected by MGS may have different manifestations of the syndrome 26.[iame.com]
  • Hearing loss is described as sensorineural in etiology but malformations of the pinnae and external meatus are sometimes present.[disorders.eyes.arizona.edu]

Epidemiology

  • Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009. Am J Med Genet A. 2012; 158a (5): 1151-7[ DOI ][ PubMed ][comprped.com]
  • Some studies found no strong epidemiological evidence to indicate a link between prenatal exposure to estrogen and malformation of male reproductive organs [ 28 ].[bmcpregnancychildbirth.biomedcentral.com]
  • A brief conceptual tutorial on multilevel analysis in social epidemiology: interpreting neighbourhood differences and the effect of neighbourhood characteristics on individual health.[journals.plos.org]
  • Karger AG, Basel References Foster A, Gilbert C, Rahi J: Epidemiology of cataract in childhood: a global perspective. J Cataract Refract Surg 1997;23(suppl 1):601-604.[karger.com]
  • Epidemiology • Congenital anomalies affect an estimated 1 in 33 infants and result in approx 3.2 million birth defect-related disabilities every yr. • About 270 000 newborns die during the first 28 days of life every year from congenital anomalies. •[slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • ENT and speech disorders in children with Down's syndrome: an overview of pathophysiology, clinical features, treatments, and current management. Clin Pediatr (Phila). 2004; 43 (9): 783-91[ PubMed ] 22. Dzurova D, Pikhart H.[comprped.com]

Prevention

  • Microbiology Ananthnarayan 7th Ed 87 Textbook of Microbiology P Chakraborty 1 st Ed 88 Textbook of Medical Parasitology P Chakraborty 1 st Ed 89 Textbook of Medical Physiology Guyton and Hall 11th Ed 90 Textbook of Obstetrics Dutta 6th Ed 91 Textbook of Prevent[books.google.com]
  • However, a variety of treatments can sometimes prevent further damage and help with complications.[chcrr.org]
  • Folic acid supplementation prevents neural tube defects.[aimu.us]
  • Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects.[icdlist.com]
  • […] as obstetricians recommend for preventing NEURAL TUBE DEFECTS, may reduce the risk for Down syndrome.[beltina.org]

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