ER: A Shift in the Night

each post gonna contain a bunch of cases i visited on ER or Clinic a week before

Saturday, October 11, 2008

Edwards syndrome (Trisomy 18)

unfortunately the patient was dead at the arrival
bout the x-ray graphy, the crack is only an artifact
in addition to head anomalies and undescended testicles, the patient had a wide perineum, so the anus was located in the sacrum


Here is some about Edwards syndrome:

Physical malformations associated with Edwards syndrome include: a small head (microcephaly) accompanied by a prominent back portion of the head (occiput), low-set, malformed ears, abnormally small jaw (micrognathia), cleft lip/cleft palate, upturned nose, narrow eyelid folds (palpebral fissures), widely-spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), a short breast bone, clenched hands, underdeveloped thumbs and or nails, absent radius, webbing of the second and third toes, clubfoot or Rocker bottom feet, and undescended testicles in males.

In utero, the most common characteristic is cardiac anomalies, followed by central nervous system anomalies such as head shape abnormalities. The most common head shape anomaly is the presence of choroid plexus cysts, which is a pocket of fluid on the brain that is not problematic in itself but may be a marker for Trisomy 18. Sometimes excess amniotic fluid or polyhydramnios is exhibited

The survival rate of Edwards Syndrome is very low. About 95% die in utero. Of liveborn infants, only 50% live to 2 months, and only 5–10% will survive their first year of life. Major causes of death include apnea and heart abnormalities


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