Open Question: Help DX a possible genetic disorder on newborn?
I am looking for a specific name/chromosomal disorder to help diagnosis a newborn I helped take care of today. Prenatally, an ultrasound found a two vessel umbillical cord on the fetus, but no further issues. The infant has had little to no suck/swallowing ability and is an extremely poor feeder. It (for privacy) takes maybe 3-6ml of milk and usually spits out a good majority of it soon after. It has low set ears, and dimples on the ears as well as a fat pad on the neck.
The head is oddly shaped, almost small in the front and narrow and long going to the back of the head, however, the baby was a c-section due to breech presentation. It’s fontanelles seem to be sunk in, which I attribute more to dehydration due to poor feedings.
At about 18 hours old the infant was noted to be breathing rapidly 70-90 breaths a minute (which has calmed down to a less rapid rate) and a heart murmur was noted, the infant also has significant to pitting edema in the lower extremities, which is getting progressively worse in the left leg.
The infant also cries almost all the time and only seems to be soothed when held upright, head on someone’s shoulder.
I suspect some sort of undiagnosed genetic disorder with cardiac involvement…anyone have any insights??

Sat, 19 Jun 2010 02:58:10 GMT

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