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 number of centers in the United States and Germany. Children with a diaphragmatic hernia were more likely to be of low birth weight and to have major upper limb malformations. Of special importance was the finding of ectrodactyly (lobster claw hand abnormality) in four of the twelve children reported.
Diaphragmatic hernia has been reported in association with a number of chromosomal, genetic and non-genetic conditions. It appears that, to the long list of conditions associated with diaphragmatic hernia, the Cornelia de Lange syndrome should be included. Children with Cornelia de Lange syndrome and congenital diaphragmatic hernia have poor survival, with only one of the twelve reported neonates surviving the newborn period. The mortality for all children with congenital diaphragmatic hernia is approximately 50%, despite advances in surgical treatment. In several cases, the diaphragmatic hernia was noted prior to birth. In at least one case, the hand abnormalities were also noted, as was growth retardation.
These data suggest that, when a fetus with a diaphragmatic hernia is identified, prenatal diagnosticians should consider that the fetus may have the Cornelia de Lange syndrome and should search for monographic evidence of the other features of this condition, including intrauterine growth on and upper limb abnormalities. It is not thought, however, that the majority of newborns with Cornelia de Lange syndrome will be detected prenatally, as diagnosis of this condition rests on the demonstration of a characteristic pattern of minor abnormalities in development.
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