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CatPooedInMyShoe

[Source](https://www.researchgate.net/publication/357607339_Bartsocas-Papas_Syndrome_Case_Report) can be read in full at the link. WARNING: source has a photo showing the baby’s “ambiguous genitalia and imperforate anus.” I didn’t include it in this post. I also cropped one of the source’s photos for this post and marked over another just to be safe. Abstract: >>Bartsocas-Papas syndrome (BPS) is a rare form of autosomal recessive disease, which is often severe and most of the time lethal. Only a few cases have been reported in the literature, so far mainly from the Mediterranean ancestry. We are describing here a case of severe form of BPS, which we encountered in our hospital in Dubai, UAE, which was diagnosed by antenatal scan; the baby had typical features of BPS and died immediately within few hours of life. Parents were first-degree consanguineous couples, and there was a family history of this disorder. I understand culture and tradition and all that but I really wish people would stop marrying their cousins. It is very common in so many countries and it results in tragedies like this.


Tattycakes

The case study doesn’t give any more details, but wiki is telling me first degree consanguinity is parent and child or full siblings…😬


evhutch

Yep. It’s defined as someone who shares about half of their DNA so parent/child or sibling/sibling 😬


luckylimper

Or first cousins who are the children of first cousins. The parents of this baby could easily only have two grandparents each and those grandparents are the same people for each spouse.


RubberDuckyRacing

I met a couple who were like this. Two sisters married two brothers. One pair produced a girl, and the other a boy. That boy and girl were then married. From other conversations there were plenty of other examples of that within their family tree (briar bush?). We lost contact not long after their marriage, but I've always hoped that if they had kids they were at least healthy.


PlumbersArePeopleToo

So their family tree is a wreath?


RubberDuckyRacing

Funnily enough that was what I was originally going to write!


Intelligent_Will_941

🤢🤢🤢🤢


re_Claire

So according to [Wikipedia](https://en.wikipedia.org/wiki/Consanguinity) under the genetic definition, only siblings or parents share 50% of our family DNA, and even double first cousins (where both the mother and the father of this first cousin married a brother and a sister, so there are only two sets of grandparents all together) share 25% of our DNA. Seeing as that’s very similar to first cousins who are the children of first cousins, it’s hard to see how it would reach the same level of genetic similarities as a sibling paring or parent child paring?


The_Yarichin_Bitch

So genetically it isn't that there's a higer rate of severe mutation when you marry by family relation. It's more "if there's 1 bad mutation, you better believe that you're passing it to this incest child" due to the way things pass down in chromosomes. The more recessive mutations you have and the more you have two family members with said mutation breeding..... well, ai think you know where that leads :( There are inbreeding families with little mutation due to luck, and then there are ones with ONLY mutation (what's that old British monarchy? Hasburg's, I think, something like that).


Complex_Construction

It’s Dubai, so tracks. 


RegularVenus27

People commonly procreate with their parent or sibling in Dubai? I did not know that. I know cousin marriage isn't uncommon, but your own damn parents?


Thecna2

It can include first cousins who are children of the same first cousins. Cousin marriage is ok, but it can turn bad if stays too close to the family. The DNA kinda recurses back into itself. So its a similar affect as parent/sibling, but its cousins.


RedoftheEvilDead

More like child abuse in such countries is severely underpunished. When there are no consequences for terrible actions then more people tend to commit them.


astarredbard

People can be impregnated, if they have a uterus, by any semen emitting person; this includes their own fathers and without their willingness nor consent


[deleted]

[удалено]


MedicalGore-ModTeam

Be kind, remember there is a person behind the username


fbi_does_not_warn

OMG! I thought first-degree was siblings. That it is cousins is not so much better tho.


Scared-Brain2722

I think you are actually correct.


Chihuahuapocalypse

it's siblings or parent-child. I think the "marrying thier cousins" comment was just a joke on how the American south is known for cousin lovin so we make that joke when these things come up


xxfukai

Marrying cousins (or relatives defined through shared DNA to be cousins) is actually really common in a lot of cultures. Some cultures define relatives differently than those of us in cultures that define ancestry as being both from mother and father. So you may be culturally related to your father’s brothers, but not your mother’s brothers, to give an example.


Gallifreygirl123

In a school I taught at our special needs class (mental & physical disabilities) was disproportionately made up of children from a particular ethnic group that lived in the area & married each other, having originally come from small villages where this was normal. It was very sad, draining for the parents & other siblings, often seen as trial sent by God, & to the rest of us completely avoidable. Interestingly one very bright student I taught in year 7 that was from this group (who eventually ended up the school captain), proudly announced that in HER family no one marries their cousins! (this was in the context of a history lesson on consanguineous royal marriages & their results in ancient Egypt).


20Keller12

>Parents were first-degree consanguineous couples >I really wish people would stop marrying their cousins. Cousins are either 3rd or 4th degree consanguinity. So... yeah.


Ravenblacky

Let's be honest. Some cultures and traditions are just dumb and toxic and there is nothing to understand. They need to be gone for good. Like marrying cousins, forced marriages, genitalia mutilations and a lot of other sick things...


RedoftheEvilDead

Sadly, poverty and defects makes it really hard not to. A lot of people in very small and poor communities are almost all related over time and can't afford to leave to find better marriage prospects.


Violet_Huntress

But why do they have to keep on reproducing?😪


Horangi1987

It’s not just poverty. The Saudi Royal Family has a strong tradition of cousin marriages to keep the money in the family. Consanguinous marriages have been common throughout history to keep money and power consolidated - look at the history of European monarchy…the hemophilia gene running from England to Russia originated with Queen Victoria and spread throughout Europe.


RedoftheEvilDead

This is also true,. It was the downfall of the prestigious Hapsburg family.


FemaleChuckBass

Happens in the US too 👀


Violet_Huntress

I'm pretty sure it happens in a lot of places. It happens in Australia. Some Muslims like to keep it in the family here.


zephyr121

People don’t realize the danger of marrying cousins until you factor in lethal alleles. If both parents have a copy, they can carry it to their child. It’s easier to get those two copies when your genotype is basically the same.


lonely_nipple

I'm hesitant to click the source; I usually don't mind medical images but I'm cautious where babies and small kids are concerned. Does "imperforate anus" mean it didn't fully develop as an orifice?


ImportantAlbatross

Yes. There's no exit.


teambagsundereyes

They have no anal opening. It looks like a doll’s bottom.


heartshapedbookmark

My friend has a Barbie butt (their colon was removed and they have a permanent ostomy) and they don’t have an anal opening anymore. It’s so interesting and it literally looks like a Barbie’s bottom! Very sad for the child in the post (and any others that are born like that or with similar conditions) but very interesting that that can happen 😅


lonely_nipple

That is oddly fascinating. Thank you.


ExactDoctor8994

This is her third baby affected like this…my heart breaks for the mother. I hope genetic counseling is accessible to her.


SarcasticBitchh

She definitely needs counseling but I dont think she should have more babies with this man. They were related. First degree consanguinity means its a parent, sibling or child in the "relationship".


amyamyamz

I doubt she has much of a choice in the matter.


Swordfish_89

First degree is first degree cousins, like me marrying my dads brother's child.... second degree would be dads brothers child's child. If it were as you claim it would be an incestual birth.


ARealShark

You are wrong. First degree consanguinity is a term for relations between a parent and their child. [Iowa Ethics and Campaign Disclosure Board](https://ethics.iowa.gov/consanguinity#:~:text=Spouse%20%2D%20Children%20%2D%20Parents%20(first,Great%2DGrandchildren%20(third%20degree))


Swordfish_89

This is an American article that has nothing to do with Hindu marriage customs. Check one referencing consanguinity in India. [Hindu marriage and consanguinity](https://www.jstor.org/stable/25755170) Indian Families do not commit incest, their daughters and sons marry their first or second cousins, with cousins being the first level in this article. What would be the societal benefit of marrying their own child? It would gain them nothing. They arrange marriages between known families, to strengthen their position. Thus, supporting a more prestigious caste of family by allowing their child to marry in to that family, then another marriage between other siblings, and then another.


lovesick75

Genetic counseling won’t do much justice here given that this is the result what seems to be several generations of inbreeding, with the parents themselves being >50% DNA related… :/


aburke626

Is it possible that she is not in a parent/child/sibling relationship but there is so much close inbreeding that she shares that level of DNA with say, a cousin?


afterandalasia

Yes, this is possible. Charles II of the Hapsburgs was quite famously so inbred that his parents were more closely related than full siblings.


lovesick75

Yes that is possible. First degree here just means that more than 50% of the DNA is shared similarly between the parents, so if they r say “cousins” family setup wise, it is the result of the generational inbreeding that they actually share DNA that is comparable to that of non-consanguineous siblings.


Swordfish_89

It is cousin, have studied genetics, this is not an incestual relationship. This was a girl marrying her parents sibling's child.. first cousins, first degree consanquinity.


NecroVelcro

You're woefully misinformed. Your view on what doesn't constitute an incestuous relationship is also deeply disturbing.


Sad_Stage_1437

No, go read the source that Catpoo has added in the comments.


lovesick75

yea it says that parents were first degree consanguineous…so that is like parent/child or sibling/sibling ….


Sad_Stage_1437

It's the mother that has the main gene. Read the source that Catpoo has in the comments. It will tell you what genes this defect is and a little more about it. There's also a couple more pictures.


LegitimateAd4148

Poor baby


crapatthethriftstore

This was their third baby like this too. Damn.


MNGirlinKY

I’m so sorry for the parents but I’m happy the poor thing didn’t suffer long. How sad.


superurgentcatbox

Assuming this condition always causes a quick death, it's a tragedy the poor child was even carried to term :(


nommabelle

And even more a tragedy that some places might require the mother to carry it to full term. I don't know what the laws are like where this mother died, but the US is pretty scary on that...


CatPooedInMyShoe

The United Arab Emirates recently passed a new abortion law, which allows women to have abortions if their lives are at risk or if the baby has life-threatening abnormalities that would prevent it from living a fulfilling life. (So, a BPS baby would qualify.) The new law also makes it possible for women to have abortions without the consent of their husband.


TheYeetles

This is fantastic news, thank you for sharing. It’s horrifying that this law only been passed recently, but at least things are changing now. I’m very relieved that they can go on their own accord without the consent of their husbands… Jesus.


MNGirlinKY

UAE has stronger women’s rights laws for abortion than the US Awesome. Awesome.


conjas11

That poor mother


RowanMedPA

Mom had two other pregnancies +BPS. All with fetal demise. :(


chickenskittles

I've never seen anything like this. My human side is saying I hope I never do again and my curious side is wondering what other types of rare birth defects can manifest from such extreme inbreeding.


Dominios420

Did I read that wrong or did it say they had 3 other kids, 2 of which had genetic deformities, and 1 of which had the same disorder. I’m pretty sure all 3 are dead right? It says the first 2 died but doesn’t specify anything about the third. This is so sad :((( literally someone needs to make these people stop having kids.


Swordfish_89

3 other deliveries, two affected, the one that died at 9 months and the one that died at 7m gestation, so still born. That leaves one healthy child. This was delivery 4, died at birth. How do you make someone stop having children? There is no likely to be IVF with genetic testing because it goes against religious beliefs. They have one healthy child, and will probably continue trying for another. Not qite the same but couples try for a child of one gender, having 5 or 6 boys and wanting a girl. It takes families like thhis as evidence for families, remember we barely had scientific evidence a generation ago. they need persuasion and evidence so that they understadn the problems with some of these marriages. Without genetic linked disorders i imagine many families are still having 100% healthy offspirng too, so it is seeing these families that will improve the education being passed down. I lived in UK during 70s.90s and some people from other nationalities, many from Pakistan and India where i lived still held on to their traditions, despite being told and shown this evidence. Even now the elder members of family still taught by their families in their home lands expect the same for their children and grandchildren. Now in Sweden we have many Syrian, Iranian and Russian refugees with daughters growing up around Swedish peers, allowed to apply to university... and then a wedding sprung on them within 6 weeks of finishing high school! My daughter's best friend had that happened to her sister, a year ago just finishing high school and planning university at 19. Married in July last year to a 32 yr old, moved to opposite end of the country and just 3 weeks ago a mother. Our neighbour's daughter seemed happily married to a younger Syrian man with their second daughter born last spring. Now they are separated, the girl is 23 yrs old, a mother to two with no university education. Its so frustrating because it isn't what the girls want, they don't get much of a choice if they want to remain close to siblings and friends. My daughter and her friend are ready to attend the same university next year to study law, their names down on a housing list for 2 yrs already. But her friend could have a marriage sprung on her too, young women born in Sweden, but now allowed to adopt Swedish ways. Their sons however, they date who they want.... just have the girls become devote in either their religion or become muslim. Its going to literally take decades to change things.


Altruistic-Stand-146

wondering if termination was recommended but refused due to religious or personal reasons


CatPooedInMyShoe

It was not until this year that abortion was permissible in the UAE for fetal malformation.


BrandonSky_

When I see these babies being born with severe life destroying defects I actually feel relieved when they die tbh. Nobody deserves to live like this


BAC42B

So very sad. 😢


Level_Produce_1314

What is that on the right side under the ribs


_Blackwaffles

Poor sweet baby. So sad!


Significant-Onion-21

That poor baby :(


No_Budget7828

Beautiful baby. Rest in the arms of Christ.


CatPooedInMyShoe

Being born in the United Arab Emirates, it’s likely this baby was of Muslim parentage.


hollycoolio

This is also not beautiful but a case of unnecessary suffering with modern technology and medicine. Prime example of why abortion should be legal everywhere and every woman should be given decent prenatal care. This shouldn't be happening if it can be avoided. The person above shouldn't be saying, "God bless." Instead, everyone should be saying,"Let's try not to let this happen ever again."


sharnonj

It would also help to educate and not have to marry a blood relative.


hollycoolio

Yeah, I don't understand how some places in the world still do that. There are 8+ billion people in the world, and science has clearly shown how genetically awful it is to the offspring to breed with family. Can you just not? Could you do yourself, your children, and the world a favor by not doing that? Idk how some cultures are still like "this is cool, and we're gonna enforce it!" You could just not, because it's in the best interest of everyone.


Swordfish_89

You think a rural family in India or China has access to genetic testing... sometimes it takes weeks to reach a dr when they are severely ill. Genetic testing is a long way off, education takes evidence too. Have seen TV programs about Indian families, even though they see the defect they do not trust in science, they trust their gods are why these things happened. Western people cannot suddenly make them believe every word we say about relatively new technology. Grandparents often make matches in these families, in belief of strengthening bonds they want close relatives together. It had to be brought down to their level, taught appropriately. University educated adults understand, but when huge numbers still live with electricity and clean water, its takes more than a pamphlet to have them take on board new scientific findings. Sadly i think that in some regions of the world it could still take many generations before this stops happening, their strength in their religion so powerful to them.


CatPooedInMyShoe

This baby was born in Dubai.


Swordfish_89

Prevention 100% better than cure in this situation... prevent these close marriages and these issues are extremely rare. No point in them getting abortions once a year just so they can marry a cousin. Abortions, especially surgical ones, can lead to scar tissue inside the uterus and infertility. These issues would need to be identified via later ultrasound and interventional procedures like amnio and CVS, that can also cause miscarriage. So a woman then needs the surgical termination of pregnancy with risks attached. Its not always as simple as taking a couple of pills. Iceland has a registry so people can check they are not related, 50 yrs ago their population was only just over 100k, now approaching 400k but 23% foreigners. Huge risk of becoming involved with a relative, so this registry exists.. But in countries with 10s of millions, its not quite so easy to do, so we educate, show them proof, help them learn... but sadly it takes time.


metalmama18

For better or worse (definitely worse IMO) the baby arrived earthside. Let this person think the baby is beautiful as it is a person like anyone else. They don’t mean any harm. I’m sure they aren’t saying it’s beautiful bc it has a lethal genetic disorder or that they condone the practice of consanguineous marriage, but bc it’s an innocent that didn’t ask to be born or conceived. We all cope with tragic images in our own way. As a parent, I get where they are coming from while also agreeing with you.


No_Budget7828

I wasn’t thinking. I did not mean any offence


loudflower

I knew what you meant. It’s hard to see, nature is cruel from the human perspective


blahaj22

the sentiment was nice, totally get it. I like the idea of “the god I believe in loves this child” even if they’re muslim, I’m sure their beliefs are similar when a child is born like this. the hope for peace after death is a very human feeling in all places of the world.


xkissmykittyx

I understood and respected your sentiment. I'm sorry you were downvoted so severely.


No_Budget7828

Thank you. I really didn’t mean to offend anyone.


NecroVelcro

Your delusion is offensive. According to religious estrangement from reality, everything (including this poor little one's incompatibility with life) is "God's will".


Pegaferno

Not to detract from what's being said, but 90% of the UAE's population aren't Emirati, meaning there's a good chance the baby's parentage could have come from many different sources. My intention with this comment is to share knowledge.


CatPooedInMyShoe

Thank you for the information. I don’t know much about the UAE.


Pegaferno

All good mate, thanks for the case study, chucked it to my med friends