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Prenatal and Postnatal Signs of Dwarfism
Dwarfism is usually diagnosed during a prenatal ultrasound when arm, leg, and head measurements are taken and compared against gestational size guidelines. The amount of amniotic fluid will also be measured. If dwarfism is suspected, chorionic villus sampling (CVS) will be done at 11-13 weeks, or amniocentesis after 15 weeks. (1)
Birth is usually done via cesarean section to protect against the chance of excessive maternal bleeding due to the larger-than-usual head, and to reduce the chances of spinal cord and brain stem compression in the baby. (2)
What to Expect in the Early Years
After birth, a series of CT scans and MRIs will be done to confirm the diagnosis. Head circumference, body length, and body weight will be measured and the numbers plotted on a growth chart. Chest circumference will also be measured to monitor for respiratory distress. (3)
In some cases, the foramen magnum opening (the opening at the base of the skull through which spinal cord connects with the brain) is too narrow, compressing nerves, spinal cord, and blood vessels.
This condition is associated with loss of breathing control that results in the death of 2 to 5 percent of all achondroplasia babies. Surgery may be indicated to enlarge the opening in severe cases. (2, 3)
Infant seats/carriers will need to have a firm back that supports the neck, and should sit rear-facing for as long as possible. Use of mechanical swings, carrying slings, umbrella strollers, and Jolly Jumpers should be limited or avoided altogether. (1, 4)
Recurrent or ongoing middle ear dysfunction is common in many infants, and eventually results language and speech development delays if left untreated, and, ultimately, hearing loss.
Ventilating tubes are usually placed to equalize the pressure. (2) Hearing tests are done “at 9-12 months of age and every 9-12 months throughout early childhood.” (3)
If there is water on the brain (hydrocephaly), a draining shunt may be placed. (2)
Because of the risk and/or presence of kyphosis (hunching of the upper back), the child will need to be supported when he/she sits until 12-14 months. Parents will need to emphasize good back support, prone position activities, and limit tummy activities.
Parents will also be taught stretching and strengthening exercises for hips and lower abdominal muscles to prevent or manage hyperlordosis. (3)
Coping with Dwarfism
Since there isn’t a cure for dwarfism, most efforts are to help a little person adapt to his/her surroundings. Many accommodations may be necessary to help little people participate and cope with everyday activities and the world around them.
The Little People of America is a great resource for families, caregivers and teachers.
Sources:
1. “Health Supervision for Children with Achondroplasia” by Tracy L. Trotter, MD; Judith G. Hall, OC, MD; and the Committee on Genetics. American Academy of Pediatrics. Web. Mar 19, 2012.
http://data.memberclicks.com/site/lpa/Health%20Supervision%20for%20Children%20With%20Achondroplasia.pdf
2. “Achrondroplasia” by Melissa Conrad Stöppler, MD. MedicineNet.com. Web. Mar 19, 2012.
http://www.medicinenet.com/achondroplasia/article.htm
3. “Achondroplasia: Natural History in the Infant and Young Child” by Richard M. Pauli, M.D., Ph.D., Midwest Regional Bone Dysplasia Clinics. Web. Mar 19, 2012.
http://data.memberclicks.com/site/lpa/NH%20achondroplasia.pdf
4. Dwarfism: Symptoms. Mayo Clinic. Web. Mar 29, 2012.
http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION=symptoms
Reviewed August 29, 2012
by MIchele Blacksberg RN
Edited by Jody Smith
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