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Fast Fact
Trisomy 13 (also called Patau Syndrome) occurs in up to 1 out of 5,000 newborns (Smith's Recognizable Patterns of Human Malformation, Saunders 1988).
The 13th chromosome contains blueprints that direct a baby's development in the early weeks following conception. When a child has an extra 13th chromosome (three copies, instead of two), as is the case in trisomy 13, the genetic messages are confused and contradictory. This results in multiple significant defects in major organ systems.
The brain is often the most severely affected. Most children with trisomy 13 also have some kind of heart defect. It's not unusual for these children to be born blind, deaf, and with no sense of smell. Children with trisomy 13 may also have abnormalities in the shape of their lips, eyes, ears, fingers, toes, and bones.
Trisomy 13 was first described in 1657, but four hundred fifty years of medical knowledge have not improved the outlook for children born with this syndrome.
Most babies who are conceived with trisomy 13 die early in gestation. Of the babies who live to be born, about 44 % die within the first month and 69% die by six months. Only 18 percent reach their first birthdays -- and these children tend to have severe mental defects and seizures (Smith's Recognizable Patterns of Human Malformation, Saunders 1988).
A blood test, called the AFP (alphafetoprotein) or triple screen, may help a pregnant woman find out her baby’s risk of several diseases, including Trisomy 21 (Down Syndrome) and Trisomy 13, though it can not give a definite answer.
Trisomy 13 is often detectable on ultrasound as early as 10 weeks. Chorionic villous sampling can detect trisomy 13 by 12 weeks. Amniocentesis, usually performed after 16 weeks gestation, can give a definite answer if any question still remains.
A trisomy 13 translocation is not associated with mom's age, but is a hereditary chromosome problem. The risk of recurrence in some types of (balanced) translocations can be quite high.
When you first meet your baby, there may be tiny bumps on his or her face. These may catch your attention or you might look right past them and not even notice at first.
What is milia?
Milia are little plugs of keratin in the glands of the skin of the face. The resulting bumps are a common feature of newborns’ faces.
The tiny bumps of milia are no larger than a millimeter or two. They are most common on the tip of the nose or chin, and are frequently seen on the cheeks and forehead. Less commonly, they will be found on the upper trunk or limbs –and even on the penis. When found in the middle of a baby’s palate, they are called Epstein’s pearls.
These bumps are yellow or white (unlike the red bumps of baby acne).
Is milia contagious?
No
How long does milia last?
Most milia disappear within the first few weeks of life. Sometimes they last for the first 3 months.
How is milia diagnosed?
Milia are recognized by their appearance and location.
How is milia treated?
Treatment is unnecessary. If the bumps last longer than 3 months or are very extensive, other diagnoses should be considered. In adults or older children (with secondary Milia), the bumps may be a sign of other skin conditions.
The addition of a new baby throws the family rhythm into a tailspin! Moms, dads, and siblings often feel their needs aren't being met. A new baby requires most of everyone's time and attention. Click here for Dr. Greene’s tips for scheduling breaks from the hubbub.
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