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Symptoms of Rubella in newborns

Contingent upon while during the pregnancy the embryo is contaminated, it might have no indications or might be stillborn. Babies who endure may have various birth deserts. These birth absconds are alluded to as congenital rubella syndrome (CRS).  The most well-known indications of innate rubella disorder in infants incorporate: Low birth weight  Small head/ Microcephaly   Brain inflammation Cataracts Damage to the retina Hearing loss Heart defects Enlarged liver and spleen Bruises or other skin spots Enlarged lymph nodes
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Down syndrome (trisomy 21)


This the most common autosomal trisomy.

Clinical features are:

  1. General - Hypotonia (floppy babies), small stature, hyperflexible joints
  2. CNS - Developmental delay, Alzheimer disease (later)
  3. Craniofacial - Brachycephaly, mild microcephaly, upslanting palpebral fissures (Mongolian slant to eyes), epicanthic folds, myopia, acquired cataracts, Brushfield spots (speckled irises), small ears, mixed hearing loss, glue ear, small nose, protruding tongue, dental hypoplasia, short neck (rise of atlantoaxial subluxation with anesthesia)
  4. Skin - Loose neck folds (infant), dry skin, folliculitis in adolescents
  5. Hair - soft, fine; straight pubic hair
  6. Hands and feet - Short fingers, 5th finger clinodactyly, single palmar crease(present in 1% of the normal population), the wide gap between 1st and 2nd toes (sandal gap)
  7. Cardiac - CHD (40%): AVSD, VSD, PDA, ASD; value prolapse >20 years
  8. Respiratory - Increased chest infections
  9. Genitalia - Small penis and testicular volume. Infertility common
  10. Blood - Increased incidence of leukemia
  11. Endocrine - Increased incidence of hypothyroidism

There are several mechanisms of trisomy 21:

  1. Non-disjunction (95%). Karyotype: 47, XY +21. This occurs where the two chromosome 21s do not separate at meiosis. The extra chromosome is maternal in 90% of cases, and the incidence increases with maternal age. Non-disjunction is the commonest cause of aneuploidy.
  2. Robertsonian translocation (4%). Common karyotype:46, XY, -14,+t (14q21q). Here a chromosome 21 is translocated onto another chromosome (14,15,21 or 22). This may arise as a new event in the child or occur when one of the parents carries a balanced translocation. The risk of recurrence is : 
    • 10-15% if the mother is a translocation carrier
    • 2.5% if the father is a translocation carrier
    • 100% if a parent has the translocation 21:21
    • <1% if neither parent has a translocation


  3. Mosaicism (1%). These children have some normal cells and some trisomy 21 cells. Karyotype: 47, XY +21/46, XY. This occurs from non-disjunction occurring during mitosis after fertilization.
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