interesting babies - page 2
The CCAM topic prompted me to start this thread. What has been the most interesting baby in your NICU? Examples being syndromes, anomalies, etc..... I'm sure that some of you with many years of... Read More
Mar 7, '03You guys, did they know before delivery that these babies had Halequins? What a blow for everyone if not!
Mar 7, '03With mine they did not. Apparently not diagnosable without an in utero skin biopsy. But there is no reason to biopsy unless you suspect it, which they had no reason to. I'm told it's a little more common in the Middle East, at least partly due to arranged cousin marriages. That's what I was told anyway. We had a nurse that had worked as a traveler in Saudi Arabia and she said they saw it often enough that it was at least as recognized as Down's is here.
Mar 8, '03No, the mom didn't know...she said that the baby was not really active. This was about 6 years ago, before everyone rec'd level 2 ultrasounds...I don't know if it would show up, but they might notice something odd.
I just remember having to put xeroform and telfa dressing over the whole baby so it looked like a mummy and it made these little mewing noises ....it was awful.
The ones we had with scalded skin were awful too...they shed their skin at an amazing rate...we had to consult burns on how to care for them. They both died of overwhelming sepsis.
You're right, it is amazing that people have normal kids, isn't it!
Mar 8, '03I have a really weird facination with birth defects...I actually READ both of my copies of Smith's...with all of the things that *could* go wrong in a pregnancy it makes me grateful for a simple heart defect.
Mar 8, '03OK...that came out in a way that could be taken really wrong...my facination with birth defects is the disruption at a cellular level that leads to the defect.
Mar 8, '03Baby born with triploidy. "She" had 69 chromosomes instead of 46. Lived a few hours. I was surprised how normal she looked.
"Mermaid"- lower exremeties fused and no rectum or urinary outlet.
I call Smith's the "funny baby book" and will read it in my spare time too. Genetics is fascinating and sometimes wonder how any of us end up normal.
Mar 8, '03Originally posted by prmenrs
Had a baby w/Ondine's syndrome once. I think she's a teenager now.
Mar 8, '03What is Smith's? Sounds like something I'd like to read. The most interesting I've seen had to be Cornelia de Lange (sp?) syndrome- fused hands, whole package of defects with that one. Also a baby with Osteogenesis Imperfecta- 53 fractures at birth alone. Had one who had microcephaly and a large portion of the brain extending out though a misshapen eye socket. Saddest thing I ever saw...when they finally covered it with a dressing, the baby looked perfect, cried, ate, etc. Otherwise beautiful baby, just completely incompatible with life (died a few days later). Oh, and one baby who came from parents who were related to each other- looked like a little elf. I kid you not, every picture you've ever seen of a pixie or elf- this is exactly what this baby looked like. Had hypoplastic lungs, no collar bones, pixie-like facies, pointy ears, pointy chin, and these long curly eyelashes and curly hair down to the shoulders. Unreal.
Mar 8, '03Originally posted by KRVRN
Horrible case of harlequin ichthyosis. Very horrible.
Mar 8, '03I like to look in Smith's too...it amazes me that one little glitch in the chromosomes can do so much damage. Makes one think how fragile life really is.
We had a baby with Crouzons....hers was so severe that her eyes were protruding from her head, like Arnold Swartzenegger in that movie where they were on Mars and they fell thru the window and their eyes bugged out. It was really freaky! They were like on stalks and moved...we had to fashion little eye gear for her. She had 3 surgeries and was fine until the 4th one and died from anesthesia complications It was so sad.
I've seen amniotic bands too...those are incredibly sad. I've also seen an open enchalocele...that was really horrible. That baby lived for 2 days. We had one kid with a huge teratoma on her bottom, she had to have an emergency colostomy and then they removed it. It was horribly deep. It was like her back just connected to her legs...they couldn't even salvage enough to make her a butt.
Mar 8, '03The 'Smith's book" is an excellent resource. Smith is one of the authors. It is a book that describes all the genetic diseases and syndromes. They show pictures and usually a one page description of the disease. There are some things in there that will shock you even if you have been in the medical field for a long time. Some of the pictures don't even look human.
I have worked in pediatric neurology as well and we saw some pretty rare things (ex. Cockayne syndrome, triploid-diploid, lissencephaly, holoprocencephaly, encephalocele, and many others that I can't think of at the moment).
Mar 8, '03Smith's Recognizable Patterns of Human Malformation
5th ed, by Kenneth Lyons Jones, MD, 856 pp, with illus, $59, ISBN 0-7216-6115-7, Philadelphia, Pa, WB Saunders Co, 1997.
This may not be latest edition, but has several editions listed.
It includes many chromosomal anomalies and other non-chromosomal syndromes. It also lists a certain abnormality such as micronathia and the common anomalies associated with it.