Smith-Lemli-Opitz Syndrome - CRASH! Medical Review Series

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Пікірлер: 22

@alicedube8025 5 жыл бұрын

My cousin had this syndrome from the day she was born. She was not expected to live for an hour. She made it to 10 and passed away yesterday. She was never able to talk or walk and was a 10-year-old inside of a toddlers body. I am heart broken that we lost her, I can't stop crying. Raise awareness for SLOS so others don't have to go through what she did.

@kayserirollionteam8947 5 жыл бұрын

My son was born with this syndrome . he's 6 now. im in a huge effort to keep him in a supportive care. i say HI!! to all heroes around the world with SLOS!

@floydstreet162 4 жыл бұрын

My son was born with this. I was told he was not going to live passed the age of 2 & he's now 27 he's very small like the size of a four year old.he's my everything, & he's stable thank God.

@Paulaqi 6 жыл бұрын

My Granddaughter was diagnose Severe SLOS with 9 defects. Born in South Africa ,only 4 cases known in this country . She passed after being 10 months old. We miss our Little Angel Chandri Vermaak. 11 July 2014 - 08 May 2015

@terriehem135 2 жыл бұрын

Lost my daughter to this 27 years ago. Back when i had Lauren i was told this was a very rare syndrome. Lauren lived for less than 2 days. Lauren was my firstborn, i had a son after i lost Lauren and he has difficulties, he has ADHD, Dyspraxia, Autistic spectrum, and Tourettes.

@simonan4044 2 жыл бұрын

My Son is 17 Years old and has this Syndrome. Life for Him is so much different and for Us . I wish that the World we live in find out a Medicine or a Therapy what can help to remove this Syndrome this Genetic defect that will be a Really Help for Our Children. In a time where the medicine developed so far it must be for All genetically Defects finally a Miracle. I wish no pain and to have the Health for Real . To all parents that have Children with a severe SLO ( because depends ) wish Them to have support for raising their Children I know how hard it is . God Bless You 🙏

@mnbvmnbv54 4 жыл бұрын

I'm unsure if i have this condition.. I'm a 27 year old Male, an aspiring physician about to take the board examinations in a few days. Physical features present in me are my upturned nose, slightly drooping eyelids, low set ears. I've been diagnosed with CRBBB, but i'm generally asymptomatic in that regards. I'm still able to hike and dive. My right thumb used to be fixed at a flexed position, but as i grew older, it eventually normalized. As for my toes, both my pinkies are small, more or less, and with an underdeveloped nails. My IQ i believe isn't affected... Although I do have a weak immediate memory recall.. wishing to have myself assessed for this soon. This is really rather surprising. I thought i was just unusual person with a lot of defects, buuut apparently, syndromes and defects just have a plethora of forms.

@kw5839 9 жыл бұрын

Very informative. Never heard of this condition before. I'm an R.N. and I've always been fascinated by genetic conditions.

@rebekahkane983 Жыл бұрын

My grandson was born with this. He died shortly after birth. My question is, my son has three daughters. Can this condition go undetected? My five year old granddaughter has some of the facial features and is being tested for autism. Whereas her brother was severely effected, is it possible to be less severely effected?

@meeronda6595 7 жыл бұрын

My son has Smith Magenis Syndrome, chromosome 17 deletion/mutation. Syndactyly on 2nd & 3rd toes- both feet. Seems to be VERY similar to this disorder 🤔

@ahmadsiyarsarwari2183 9 жыл бұрын

Dr you have been doing a great Job ,thanks for sharing ,please make some videos on gynecology and Obstetrics .

@bertbayou139 9 жыл бұрын

Thank you. This is very informative.

@lifesimmercanada5401 2 жыл бұрын

My son has the "marker" for this but they tell me not to worry?!?

@AngelaMoses123 5 жыл бұрын

Don't forget duplicate inheritance from one parent, we have inherited 3 of our four mutations from compound genes inherited from one parent. No one seems to remember these.