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DUBOWITZ DAY II
Notes from Question & Answer Sessions with Dr. John Opitz
University of Utah -- August 6, 1999
Discussed risks to be aware of:
LATEX ALLERGIES -- This can be very serious from the first occasion
someone has a reaction, despite prior contact with latex. Please try to
avoid medical gloves and balloons that are made of latex.
APLASTIC ANEMIA –- This means having deficient red blood cell production. Red blood cells carry hemoglobin (oxygen and iron) through the body. There is a small risk of this condition in kids with Dubowitz Syndrome, perhaps greater than the general population risk. This can be monitored by semi-annual blood tests (see below).
SOLID TUMORS -- This means an uncontrolled overgrowth of a type of cell such as blood-forming cells (leukemia), skeletal muscle (rhabdomyosarcoma), or nerves (neuroblastoma). The risk for these cancers is quite small, but believed to be increased compared to the general population. We would encourage monitoring by semi-annual blood tests (see below) to promote early detection and treatment.
Reviewed the recommended screening tests:
CBC (complete blood count) -- twice a year
URINALYSIS -- 2-3 times per year
PHYSICAL EXAM -- 2 times per year
Be sure to palpate (feel) the abdomen and check blood pressure.
BONE AGE FILM -- once as a "baseline" with another at the onset of puberty, unless a child decelerates dramatically in growth at which time another x-ray should be done.
Note:
After puberty a child does not need to be followed with these screening procedures.
The individual will be beyond the age of concern.
Questioned the inheritance pattern of the condition:
"When the Dubowitz syndrome was originally described the best guess was that it was inherited as an "autosomal recessive" condition in which case both parents are carriers with a 25% chance in each pregnancy to have an affected child. As you know, recently one of the original patients had a niece born affected. We now recognize that there is evidence of familial cases of Dubowitz syndrome in 30/200 known cases worldwide. We need to look carefully at each of these families, but we now must doubt the original hypothesis. This is another priority for research into the Dubowitz syndrome, particularly because of the implications for counseling recurrence risks for your family."
"It was brought to our attention that you, the parents, have noticed subtle signs of the condition in yourselves. We would be highly interested in a tally of these findings, as they may suggest a solution to our present genetic dilemma."
We were also reminded to pursue avenues of inquiry regarding family history such as more distant relatives whom you suspect were affected or had subtle signs, an ethnic background that many of you share in common, or a possible reason for a selective advantage for carriers (i.e., protection against small pox).
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Updated: January 22, 2000
Dubowitz Syndrome Information & Parent Support