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Friday, December 13, 2013
Newborn and Infant Care
Additional Large Head Circumference Info.....
Further to my original question answered by Mary M. Gottesman,(thank you for your information) there are other things going on with my 18 month old. Along with her small height and large head that is off the charts (has been measured correctly and re-done to make sure the measurements were true) she also has frontal bossing, wide apart eyes, flared ribs, an unusual small lump in each fold in front of her armpits (identical on both sides), developmental delay, lack of speech, uneven leg creases, the list is quite long. She has also had an ultrasound done at 4 months for Hydrocephalus which was clear. We have been seen by a Geneticist who read her info and measured her head and diagnosed her with Brachycephaly. Do any of these other symptoms give you an idea of the bigger picture? Appreciate all your feedback thank you.
This must be such a difficult time for you! With such a large number of physical abnormalities and mental retardation, the chances are strong that your daughter has a genetic disorder. There is a wide variety of possible diagnoses that include are consistent with the features you have mentioned. These include achondroplasia, craniofrontalnasal dysplasia, Sly Syndrome or mucopolysccharoidosis, as well as acrodysoslosis.
Sometimes parents have a defective gene and sometimes it is simply a spontaneous gene mutation or change for which there is no known cause. Most all of these problems are quite rare, occurring as once per 40,000 births or more. Have chromosomal or genetic studies been performed yet? If not, this would be the most likely way to find out exactly what the problem is.
Knowing a specific diagnosis is helpful because it will impact your decisions about future pregnancies but, most importantly, it will alert your daughter's doctors to common problems which they can then work to prevent or minimize. Even if a cure is not possible, therapies can still help her be as healthy and able as possible. It would also make financial aid more likely for your child's care.
Once you have a diagnosis, there are many wonderful parent support groups for families whose children have a rare condition. Other parents are a wealth of information and support as well as sources of information about helpful resources. Early intervention services are also critically important in limiting problems with her ability to learn, speak, and move.
I wish you well in your journey to find the diagnosis that is right for your daughter and especially in your efforts to provide her with loving, knowledgeable care.
Mary M Gottesman, PhD, RN, CPNP, FAAN
Professor of Clinical Nursing
College of Nursing
The Ohio State University