Diaphragmatic Hernia

Diaphragmatic Hernia

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...
Diaphragmatic Hernia

Teeth (extracting)

Two bottom teeth erupted first followed by her molars, eye teeth, and now, her top tooth on the right is coming in. The other hasn’t come through. Is age a factor? She will be two years old soon. This situation is a common one. Children with CdLS usually find...
Diaphragmatic Hernia

Weight Gain (slow)

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...
Diaphragmatic Hernia

Cornea (cloudiness of)

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...
Diaphragmatic Hernia

Hypertension (Neonatal)

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...
Diaphragmatic Hernia

Caloric Intake

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...
Diaphragmatic Hernia

Hiatal Hernia Treatment

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...
Diaphragmatic Hernia

Genitourinary Issues

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...
Diaphragmatic Hernia

Fundoplication (timing of)

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...
Diaphragmatic Hernia

Development Issues

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...