by Whitney Rinaldi | Oct 18, 2018
Is diaphragmatic hernia common in CdLS? In an issue of the American Journal of Medical Genetics, Cunniff et al report that diaphragmatic hernia may be a relatively common feature in newborns with the Cornelia de Lange syndrome. Twelve newborns are presented from a...
by Gabbie Nadeau | Oct 17, 2018
Regarding 10-month-old male with CdLS. He had a Nissen performed at nine months of age but pediatric surgeon is concerned with lack of weight gain. Recommending placement of g-tube for night feedings. Mom is hesitant. Encouraged mom to seek a consultation with her...
by Whitney Rinaldi | Oct 18, 2018
At my child’s annual eye exam, her doctor found what he thought was a cut that healed as a scar on her right cornea. Her cornea is cloudy. Could this actually be a cataract instead? 1. Cloudiness of the cornea (clear dome shaped covering over the eye) can look very...
by Deirdre Summa | Oct 18, 2018
Is hypertension common in newborns with CdLS? This case seems a little different since it is neonatal. Most of the time, hypertension in newborns is secondary to some systemic problem. The most common causes of neonatal hypertension are renal artery thrombosis (blood...
by Whitney Rinaldi | Oct 18, 2018
What would be a sufficient daily caloric intake for a CdLS child? We have had several nutritionists express their concern regarding our son’s daily caloric intake (approx. 400 calories per day). They have suggested a feeding tube to increase his daily caloric...
by Deirdre Summa | Oct 18, 2018
My child was diagnosed with a hiatal hernia. The doctor is recommending a Nissen Fundoplication. Is this the standard treatment? A hiatal hernia means that part of the stomach is in the chest. This leads to more severe GERD because the muscle at the top of the stomach...
by Whitney Rinaldi | Oct 18, 2018
What are the possible genitourinary issues in CdLS? Genitourinary problems include abnormalities of the male or female reproductive system, kidneys and urinary tract. There are a number of possible genitourinary problems in CdLS, and I will only discuss the most...
by Whitney Rinaldi | Oct 18, 2018
What is a good age and/or weight to have stomach surgery for reflux? Most babies outgrow reflux. Children with CdLS often don’t outgrow it. We do surgery when medical therapy fails. Failure includes: 1. Growth failure from vomiting 2. Respiratory disease from...
by Whitney Rinaldi | Oct 18, 2018
Will my brother, who has mild CdLS, be able to grow up like a boy without CdLS? Each individual with CdLS is different and, as with any child, it is difficult to predict what his life will be like when he grows up. However, there are probably some generalizations that...
Recent Comments