Learning to use

Cohen syndrome

A 29 August 2011 Washington Post article describes a girl with problems that stumped her doctors for 5 years:

Right away the obstetrician knew that something was very wrong.

MM weighed just over five pounds and had a head that was abnormally long and narrow. Her muscle tone was worrisomely floppy, and her cry unusually weak. Doctors at Frederick Memorial Hospital let LM hold her newborn briefly before whisking her off to the neonatal intensive care unit.

“I didn’t see her much for a few days,” recalled McElhinney of the period immediately following the birth of her fourth child, in June 2002. After nearly a week in the hospital the baby was sent home, although no one could say what was wrong. Initial tests found no obvious cause, such as a metabolic disorder.

More than five years would elapse before McElhinney and her husband, Brad, learned the reason for their daughter’s problems.

At 7 months, when she had not rolled over, which some babies do when they are a few weeks old, Morgan began early intervention therapy under the auspices of a state program.

Around the same time, McElhinney’s hopes were briefly buoyed. Doctors discovered that Morgan was severely nearsighted. “Vision is so important to development, so we hoped once she got glasses that would help,” McElhinney said. But seeing better didn’t seem to make much difference.

The description in the article is sparse, but using the information present by 7 months of age the diagnosis of Cohen syndrome is #1:

Diagnose screen with differential diagnosis and phenotype

Other diseases are possibilities, but could have been excluded by “pertinent negative” findings on physical examination or simple tests.

Subscribers to the software can load the findings in this case by opening the software and then clicking the share icon at the right of the toolbar and adding the following patient string: