[IdyGal]

Baby born with Treacher-Collins syndrome. Apgar scores were very poor so I'm guessing this poor soul didn't survive. Something to be grateful for.



Case Presentation

A 35-year-old woman who was gravida 3 para 1 with 0 preterm pregnancies, 1 abortion, and 1 living child presented to labor and delivery in active preterm labor at 35 weeks. Her prenatal course was remarkable for limited care, having only 3 total prenatal visits. Her prenatal laboratory studies were unremarkable, but as a result of the patient's noncompliance, she did not receive serum aneuploidy screening or a detailed anatomy ultrasound. Her pregnancy was dated by a 6-week crown rump length measurement.
History

The patient's medical and surgical histories were unremarkable. Her obstetrical history was significant for 1 full-term uncomplicated spontaneous vaginal delivery and 1 first trimester elective abortion. Her family history was significant for cleft palate in the patient's brother, but no other birth defects were noted. The patient was intermittently incarcerated during this pregnancy and had a history significant for frequent drug use, including crack cocaine, marijuana, and alcohol. At the time of admission, the patient admitted cocaine use immediately preceding her presentation to the labor and delivery unit.

After admission to the hospital, the patient experienced rapid cervical change and subsequently delivered a malformed fetus. The obstetrical team was surprised by the appearance of the infant, as the craniofacial findings were unexpected. Of note, the infant appeared grossly normal from the neck down. The pediatric team was immediately called to the room to evaluate the newborn. At birth, the newborn's heart rate was <60 beats per minute, the infant was pale with absent tone and exhibited minimal gasping. The infant was given supplemental blow-by oxygen without noticeable improvement in heart rate or respiratory effort. Apgar scores were 1 and 1 at 1 and 5 minutes, respectively.

[Lythal]

The best transformation ive seen in a kid thats born deformed/disabled whatever you call it, is juliana wetmore, she has this and has had crazy amounts of surguries but if you watch videos of her you see that she might not look normal outside but she is a very normal kid on the inside
Ive always dreaded something like this happening if/when I decide to have kids later, It would be tough deciding what to do with it by the time you realise its not growing like it should be

[Lion-hearted Girl]

Wow this is incredible. How sad :(

[LadyCPlum]

Fucking hell....this is far worse case than Juliana Wetmore's....

[vagabond]

Poor kid- that mother should be sterilized, while they have her on the table.

[smnewstead]

This is indeed worse than Wetmore. Babies with this precise form of Treacher-Collins die within an hour because they have no mouth or nose, and thus, can't breathe.

[smnewstead]

Originally Posted by vagabond ↗

Poor kid- that mother should be sterilized, while they have her on the table.

It's interesting you mention that, because there is this guy who is CHOOSING to have a Treacher baby, despite having it, himself, to teach "acceptance," or some shit. His is just a messed up face, but most cases aren't so "lucky." Selfish as crap.

[smnewstead]

Here's the guy who wants a Treacher baby.

http://www.zodiakrights.com/Brand/Pr...s-born-like-me

[mintycbo]

Any parent/parent-to-be nightmare...

[hardy-harr]

jesus christ....thats sad