by Whitney Rinaldi | Oct 19, 2018
What is Microcephaly, its cause and prognosis? Microcephaly by definition is “small head” by measurement of circumference. This can be congenital (someone is born with it, as is the case with CdLS) or acquired (in which the individual’s head size...
by Whitney Rinaldi | Oct 18, 2018
What is the definition of failure to thrive? Is it an appropriate diagnosis for children with CdLS? Failure to thrive occurs in infants and children when the physical growth, especially weight gain, is less than peers (usually below 3rd to 5th percentile on growth...
by Gabbie Nadeau | Oct 18, 2018
We have a 22-month-old daughter who finally passed a swallow study a few months ago and seems to be very eager to eat real food. We were hoping for some more opinions about how to wean her from her G-tube. I know there are differing opinions on what the caloric needs...
by Gabbie Nadeau | Oct 18, 2018
My 13 year old son was just diagnosed with scoliosis. He already has a curve of 39 degrees (top, to the right). His orthopedist is recommending 22/23-hour brace. Is there any treatment protocol for CdLS children with scoliosis? Is there any information on how well our...
by Gabbie Nadeau | Oct 17, 2018
Our 4-year-old son with CdLS weighs approximately 17 pounds. At the age of three weeks he required surgery to remove an inguinal hernia. At that time the surgeon discovered only one testicle in his abdomen; the other testicle could not be detected. He was placed on...
by Whitney Rinaldi | Oct 19, 2018
My adult patient used to have menses however for the past 6 months has not had one. Should one pursue other medical testing to find the underlying cause. And if so, what tests should be prescribed? Menstruation stopping after having been present (secondary amenorrhea)...
by Whitney Rinaldi | Oct 18, 2018
Is premature fusion of the fontanel common in CdLS? What is the recommended treatment? The entity is called craniosynostosis, or premature fusion of the sutures. Normally, the skull is made up of several separate bones that eventually fuse together at the suture...
by Gabbie Nadeau | Oct 18, 2018
My 4 month old daughter is fed through a g-tube that is controlled by a feeding pump. How do I calculate her formula increase as she gains weight? She is currently between 8.5 and 9 pounds and is 20 inches long. For a child under age 2, there are a lot of...
by Whitney Rinaldi | Oct 19, 2018
Our daughter’s periods can be regular, but she can go over 70 days between. This often causes her great stress or pain (we’re not sure) and she has uncontrollable behaviors such as bad self-injury and contortion-like movements. We have Lorazepam for her...
by Whitney Rinaldi | Oct 18, 2018
My son with CdLS, who is 9 months old, weighs 10 pounds – 7 ounces, has a cleft of the soft palate. When is the best time to have surgery? Clefting of the soft palate only (no lip nor hard palate involvement) does not have very much affect upon the dentition....
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