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Recording: Genetics Teaching



Join Ash in an on-demand teaching session focused on pediatric genetic conditions. Despite seeming like a niche subject, questions based on pediatric genetics frequently crop up in exams and catch many medical professionals off guard. This session will explore a few common genetic conditions seen in pediatrics, discuss their management, and reveal signs to look out for. The presentation will touch upon chromosomal abnormalities such as Down Syndrome, single gene diseases, X-linked conditions, and multifactorial diseases like spina bifida. The presentation will also cover prenatal detection methods for these conditions, including chorionic villus sampling, amniocentesis, and new non-invasive prenatal testing methods. Furthermore, the session will delve deep into Down Syndrome, discussing everything from its appearance to the associated complications, age-related risk, and its management. This engaging session is worth joining if you want a comprehensive overview of pediatric genetic conditions.
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Learning objectives

1. Understand and demonstrate a working knowledge of common genetic conditions within pediatrics and how they present in early stages. 2. Identify the signs to look out for when diagnosing genetic conditions in pediatrics, including those related to chromosomal abnormalities, single gene diseases, x-linked conditions, and multifactorial diseases. 3. Discuss how to effectively use prenatal testing methods such as chorionic villus sampling and amniocentesis to diagnose genetic conditions, and evaluate the benefits of noninvasive prenatal testing. 4. Understand the relevance and interpretation of karyotypes; specifically, in diagnosing Down Syndrome and describe the physical presentation and dysmorphic features of Down Syndrome patients. 5. Demonstrate awareness of the multidisciplinary approach to managing genetic conditions such as Down Syndrome, including key follow-up investigations, interventions, and specialist involvement with cardiac, ENT, and pediatric colleagues.
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Computer generated transcript

The following transcript was generated automatically from the content and has not been checked or corrected manually.

Just let me know you want to change dates. Yeah, that's fine. Hi, everyone. Uh, my name is Ash and today I'm gonna be presenting on pediatric genetic conditions. Uh Thank you so much for joining us today. Um, and on behalf of uh, we're gonna get started. Now, if you have any questions, just post them in the chat box and a feedback form will be sent at the end of the session for you to fill ba fill out as well. Uh Next slide, please. Ok. So we're gonna explore a range of genetic conditions. So, um in pediatrics, this topic can be, can sound a bit niche but um these questions can appear quite, uh, they have appeared quite a few times in exams and um, they've caught everyone off guard, uh because no one was expecting questions based on pediatric genetics. So I'm gonna explore a few common uh genetic conditions that we read about in pediatrics and see in clinical scenarios as well. Um And just talk a bit about management and what signs to see or look out for and how they present uh in the early stages as well. Uh Next slide, please Yeah. So there are a range of disorders that um we commonly see in clinics. Uh so they can range from chromosomal abnormalities which are um any disturbances with the chromosomes. So that sometimes they can be um uh most commonly being Trisomy 21 which is Down Syndrome where they have three copies of tri uh chromosome 21. Um then they can be single gene diseases which are inherited. So like um autosomal dominant conditions, autosomal recessive conditions, depending on what the mother and father, what genes they have. Uh And they can be x linked as well. And sometimes it can be multifactorial diseases such as spina bifida where uh it's not a single gene that causes uh the problem, but it's more likely a combination with the environment and the genetic factors as well. Um And sometimes uh during uh pregnancy, the mother can be exposed to a lot of teratogens. Um uh ranging from alcohol to um the smoking, which can basically um cause these genetic conditions to um to present as well in the offspring. Um Next slide, please. Yeah. So there are a range of uh ways in which these genetic conditions can be diagnosed. Um And obviously the basics for any um uh diagnosis would be in history and examination. Um But uh usually these gender conditions can be detected prenatally. So, um we usually rely on something called as chorionic bullous sampling or amniocentesis if we are suspecting if there's high suspicion of um of these genetic conditions. Um Then we rely on these methods. Um So chorionic villus sampling uh is something that's done mostly in the early stages of pregnancy, lesser than 14 weeks, I suppose. And it's basically testing the placental tissue and we do a chromosomal analysis and get a karyotype um of uh of the offspring which I'll show you on in the latest slides, what a karyotype is and amniocentesis is done in the latest stages of pregnancy. So, when there's uh enough ade or adequate uh amniotic fluid that forms um in the amniotic sac, then we test the amniotic fluid to and again, just get a karyotype as well. And nowadays, um there's a new uh noninvasive uh prenatal testing as well. That's come out where it's a very, no, it's in the name itself, it's noninvasive. So basically, we're testing the mo mother's blood which has uh it's a simple blood test that you get from the mother and it the, the mom's blood contains these DNA fragments of the offspring and contains like placental tissue, which can be more representative of the fetal DNA. And then these can be analyzed for any um genetic conditions like Down Syndrome as well. Yeah, next slide please. Yeah. So, so talking about the first condition in Down Syndrome, uh more commonly known as Trisomy 21. Um So this is what I meant by a karyotype. So you can see how um as you might already know in gammat cells which um in gamut cells, we basically have 23 chromosomes uh and not 23 pairs of chromosomes, but 23 chromosomes which are basically attached uh with the centromere in the center. And you can see that uh from 1 to 23 there is uh two strands, but in the case of chromosome 21 you can see the presence of three strands. Um And that's typically how the karyotype of Down Syndrome patient presents. Like um next slide, please. Yeah. So a bit about how um I'm not gonna go much in detail about the miosis process. Um but um miosis is basically how um these gamuts form, form in the sex cells. And um and it's, it's not saying that um and any other chromosome won't split this way. So what happens is uh there's 23 pairs of chromosomes that basically line up in the center of the cell and they have to divide by the process of miosis and each daughter cell from, from the process of meiosis has to contain 23 individual chromosomes. And again, uh to reiterate not 23 pairs of chromosomes, but 23 individual chromosomes. And sometimes in this process, what happens is uh in what happens in Down Syndrome is that there's a non disjunction of these chromosomes. So what happens is they don't split equally and most commonly uh it happens um and it usually presents with chromosome 21 not saying that it doesn't happen in a any other chromosome number. But chromosome 21 if it occurs in chromosome 21 this non disjunction, these um gammas are more likely to be fertilized and um uh grew up into offspring. And uh but if it happens in o any other chromosome, like chromosome one, perhaps a chromosome, uh 22 they might not survive or implant or reach survival stage. So, chromosome 21 is one of the most common common ones that does this and um that presents as Down Syndrome and offspring. Uh next slide, please. So, um so Down Syndrome, as you can see in this picture here, there's kind of some visi visible dysmorphic features that you can see in a patient with Down Syndrome. Um The the first thing that you can um see in these pictures is the baby appears really floppy, the floppy, uh floppy position of the hands, they just be quite flopped out. And if you compare that to someone who doesn't have Down Syndrome, you can, you can kind of see the difference there, but there's very reduced muscle tone. And um in considering the head to body surface uh ratio as well, the it had the babies with Down Syndrome have a very small head um and a very short neck as well as you can see in these pictures. Um They're very prominent epicanthic fols. So what are IC FOLS are the folds of the skin that cover that medial portion of the eye and eyelid, um and upward slant sloping, like palpable fissures as well, which are basically gaps between the low and upper eyelid. Um And these are kind of features that they can, they can give out in like an exam question and you might have to identify that it's a Down Syndrome um that the answer is Down Syndrome. And in this ha the hand picture here as well, you can see that it is like a singular palmar crease uh which is very typical of patients with Down Syndrome. So, these, these dysmorphic features are quite recognizable and usually uh we can make a diagnosis based on this itself next to these. Yeah. So um now we'll talk about a few complications associated conditions that you can have alongside Down Syndrome. So, usually Down Syndrome patients, they usually have like learning disabilities. Um and they, they are more prone to um ear infections and mo more in particularly recurrent otitis media. Um and they can have visual problems like myopia strabismus cataracts in later stages of life. Uh They more typically present with um hypothyroidism and uh they usually ha can have uh cardiac uh problems as well. So, atrial septal defects, um A PDA or tetra tetrology of fall as well. And um usually these patients, they have something called as atlantoaxial instability. Um And what this means is that um the cervical spine is quite um it's not as rigid as you would find in someone who doesn't have Down Syndrome. And um this can come up in other parts such as anesthetics where they say um the Down Syndrome patient, it's you need to be extra cautious when you're pos pos positioning them for intubation because of this instability that exists. And um a few other conditions are more common in Down Syndrome. So, leukemias are quite common in Down Syndrome patients. Uh and more commonly a A ML and uh dementia as well. They're more likely to develop dementia uh in the later stages of life. Next slide, please. Ok. So, um so there's age related risk when it comes to Down Syndrome. Um and um the risk starts off, um there's the lowest risk at 30 but then as you, as you age, as the mom ages, uh there, there seems to be a higher and higher risk and surprisingly one question uh turned up in our exams where it said, what was the, what was the age related risk? Um approximately a percentage risk of a mom having a Down Syndrome baby at the age of 40. And um this table kind of summarizes it really well, I know it's kind of a niche question but it's very easy if you know your way of remembering this. So if you think about it at 30 years, it's quite, if you start off with one or 900 risk of um mom having a Down syndrome baby. And then as uh, as you go to 35 years, um, that reduces to one on 350. So, if you remember that is the denominator being 35 times 10. So that's 1/3 50. And every year after that, you can subtract 50 in the denominator until, until the age of 40. So by the time you're 40 years old, the risk is 1, 100 then uh three or four years after that, your risk of the, the denominator basically decreases by 20. So uh that's one on 80 at 41 1 on 60 at 42. So it goes like that and it's easy to remember if you have like a kind of pattern recognition. Um It's a niche, niche question they can ask but um it's always good to just remember it in case they, it comes up in your exams. Yeah, uh neck like this. So management uh in terms of down syndrome management. So it's very important to remember that in any a case scenario when they ask management of any condition. Um in terms of genetics, especially, uh it's always a multidisciplinary team that's involved and that's the safest answer you can give. So that includes a wide um a wide team basically. So occupational therapists, physiotherapists can be dieticians, ent uh ent specialist because they're more prone to like glue ear and like ear infections in general. Uh pediatricians basically, because they, they they can present as Children, uh, with Down Syndrome instead of, uh, as adults. And, um, then they basically, they have a lot of heart conditions as well. They're more prone to having, uh, developing heart conditions. So, cardiology team, um, and a few, there are few routine follow up investigations that can be done for Down Syndrome patients. So, because of the, uh, because of their hypothyroid issues, they can have regular thyroid checks, uh most probably like every two years. Um and then an echo as well. Um uh to diagnose any cardiac de defects early on in when, when they're born. Uh And then just to test for any hearing impairment, um regular audiometry as well can be done. Um But it's always safe if you're not able to remember what exactly is the management to, to say that it would, the management would involve members of a multidisciplinary team. Uh Next slide, please. Ok. So, um another common um non disjunction that happens is can be in chromosome 18 and that gives rise to three copies of uh the chromosome number 18 and that gives rise to Edward Syndrome. And uh it probably affects males, uh female, sorry, uh more than males. Um And they have kind of like some characteristic features and one of the most common things that comes up with any question would be like rocker bottom feet, uh which you can commonly see in Edward Syndrome. Uh And you can see a picture of this here as well. Um And they have very low set ears. Again, they have some learning disabilities, a small jaw, uh again, a small head as you would see in Down Syndrome patients as well. Um And again, they're more prone to ha developing heart conditions, uh kidney problems. Um, and uh they can have a cleft lip or hole as well in the iris. So these are common features, but most likely you would get uh like they would identify with the terms like rocker bottom feet. And that can help narrow down your differentials to to these conditions. Next slide, please. Yeah. So again, uh known disjunction can also occur in tri zone in chromosone number 13. Um And what happens in these, compared to Edward Syndrome or Down Syndrome patients is these babies don't usually survive. Um And sometimes even if they do survive, they, they don't live for very long after birth. Um And they've more kind of like severe features as well. Um So where the eyes are really close together or sometimes the cerebral hemispheres fail to develop properly. Uh again, they can present with some heart conditions um and heart defects. Um and um it can be addition, additional fingers present uh a cleft lip, again, decreased muscle tone, uh they can have, they can be born um with excessive seizures or they can have skeletal abnormalities. But these because of the severity of these dym dysmorphic features. Um and the associated conditions, they don't usually survive as compared to um the prognosis is not as good as compared to wards and downs next slide, please. So, um as I said before, um there's uh some diagnostic modalities. So there's something called antenatal screening and versus antenatal testing. So, um the difference between them is if um if for whatever reason a mom wants to get tested for these gender conditions. Um uh Basically, they go through the screening process first. If they had an increased risk of basically having offspring with these gender conditions, they undergo screening first. And um and then if the screening shows something they go on to testing, they offered a diagnostic test and that can be in the form. What I mentioned as in like chorionic villi sampling or amniocentesis where actually um actually sampling some amniotic fluid or your the placental tissue to get like uh karyotype or get the what's actually going wrong. But a screening basically tells you if you at increased risk or not. Ok. So, um the combined test is basically the first line and it's one of the most accurate first choices for antenatal screening. It's usually done between the uh uh gestational age of 11 to 14 weeks. And um you, it's a combination of like ultrasounds and maternal fetal uh maternal blood tests. Um So, uh as you can see in this picture here, there's something called a knuckle translucency. Um And in, in particularly in Down syndrome babies. This um uh this kind of uh thickness that you can see in this picture here uh of the back of the neck of the fetus is is is usually over like six millimeters and that can increase your suspicions of um um baby having Down Syndrome. Uh And then you can go on to have these diagnosed uh diagnostic tests. Basically, a few blood tests as well can be done as part of these combined tests. So, there is something called as beta HCG that you can test. So a higher, higher result, basically um uh is indicative of a higher risk of Down Syndrome and also something called as uh PAP A which is pregnancy associated plasma protein A and a lower level of this uh indicates a greater risk of Down Syndrome. Next slide. So, uh this is quite like a common question that pops up in exams, especially in relation to Down Syndrome where they want to know what exactly how are the levels of beta HCG or um PAP A affected uh with uh in, in terms of Down Syndrome. But I've put in Edwards and Trisomy 13 as well. In this. Uh there's something called triple and quadruple tests. Uh and these tests um as opposed to combined tests uh which um happened between 11 to 14 weeks. This happens later in pregnancy around 14 to 20 weeks where the triple test is a combination of AF ps uh unconjugated estriol and heat CG and quadruple test is a combination of a FP, unconjugated estriol, heat CG and Inhibin A in terms of Down syndrome is the most common one to remember in the beta HCG and Inhibin are high. Uh and the A FP and serum estriol are low. And in terms of trisomy 13 and 18, everything will be low. Um I would suggest that it's something that you just have to remember. There's probably not an easy way to remember it, but in case of Trisomy 13 and 18, if you just remember everything is low. And in Down syndrome, the beta H A and Inhibin are the only ones that are high. Um Then uh you can probably uh remember it for your exams, but it's something quite uh relevant for your exams, I would say next slide, please. OK. So um so Klinefelter syndrome, uh So this is another gender condition and it occurs when a male has an additional X chromosome. So making them 47 X XY. So usually they are uh there's an additional like chromosome and because of that, there's more like feminine features. Uh that's the easier way to remember it. So because they are more feminine features, um uh offspring with Klinefelter syndrome, they usually um have gynecomastia in their doin um hypogonadism. So um they, the males, they basically have very small testes. So basically more feminine features and the uh the the most common presentation can be, they would be quite infertile. Um which is explained again by the small testes, the reduced testosterone levels because of that additional X chromosome present and again, learning difficulties, um uh wider hips, uh weaker muscles, reduced libido and uh management of this then. So because you have more feminine features, you want um testosterone injections that can help raise those testosterone levels because the testes are very small, they're not able to produce enough um in terms to allow fertility then. So because they're not probably not able to produce enough sperm as well. So IVF techniques uh allow fertility and sometimes breast reduction surgery. So these are more cosmetic uh because Cosme cosmetic surgeries to help uh manage this. Uh But again, I would say if they ask for management and os case scenario, highly unlikely this syndrome will come up. But if they do ask, and you say multidisciplinary team of occupational therapists, Asian language therapists, physiotherapists, um that could give you a nice answer. And when they ask about management, next slide, please. Yeah. So Turner syndrome then. So this um this as opposed to Klinefelter's is uh it occurs when a female has a single X chromosome instead of two X chromosomes. So usually it's 46 xx uh but this one would be 45 xo. And um so it finally affects females. Um and the most common um kind of features would be like a short stature, a webbed neck and broad chest with widely spaced nipples. These are kind of like uh terms that give away that it should, it can be Turner Syndrome. Um There's something called Cubitus valgus, which is quite um quite evident in Turner Syndrome where you can see that the there's an kind of like an abnormal angulation. If you see this picture here, there's kind of like an abnormal outward angulation of the forearm and it causes that arm to deviate away from that uh away from the body. So it's quite typical in Turner Syndrome, most women are infertile. Um and there are some associated conditions with it. So, recurrent ear infections, recurrent uti s, the most common heart condition that you might have to remember for Turner syndrome that comes up in MS quite often is coact of the AORTA. Um They can also have hypothyroidism, hypertension, obesity, diabetes in the later stages of their life. Um in terms of management, uh a multidisciplinary team approach um and growth hormone therapy. So that's for the short stature. Um You can give them estrogen and progesterone uh replacement as well to help establish those female secondary sexual characteristics because they only have a single X chromosome. So they're not able to develop in that way. Um And that will also help regulate their menstrual cycle. Um And again, some fertility treatments can be offered to females in terms of IVF. Um Yeah. Next slide please. Yeah. So this is just a picture showing uh Klinefelter Syndrome and Turner syndrome uh side by side. So, as you can see um in Klinefelter's, they're more like um have fem feminine features of enlarged um so gynecomastia or they have wider hips. Um and in terms, and very small testes as well, in terms of Turner Syndrome, then they've more like masculine features. So uh a very broad chest with widely spaced nipples um or the webbing of the neck. And so uh just it's easier to remember the uh features when you look at this picture. Uh next slide, please. Yeah. So um not a genetic condition, uh Pravella Vella syndrome. Uh it's it's caused by a loss of the functional genes um in the proximal arm of chromosome 15, um which is uh usually inherited from the father. So sometimes uh it can be due to a deletion of this portion of chromosome or when both of these uh chro this part of the chromosome 15 are both inherited from the mother and they don't inherit from the father, then you can present with this syndrome. Um It equally affects males and females. Um and they kind of have um features uh in they can uh have reduced movement. It's very nonspecific obviously. Um but uh at birth, uh they can present with feeding difficulties again, uh reduced stone and in infancy, they can um have uh appeared to be really sleepy or some spine scoliosis as well in childhood. Uh they tend to have excessive weight gain and that's because of um their habit of eating excessively. And that's kind of a feature that can differentiate this from other syndromes. Uh when you can identify the muse, where the child presents with excessive uh eating habits and where they can't control the eating. And they have a very um specific features of central fat uh around the abdomen and narrow foreheads, um and delayed motor development. Um and it's, it's kind of these features that point towards this syndrome. Uh And um in terms of management, uh apart from the um uh multidisciplinary team, input, uh growth hormones are kind of indicated by nice as a treatment for the syndrome. And it basically helps to develop those muscles and helps in building up that body composition as well. Next slide please. So, um Angelman syndrome, uh it's kind of like the opposite of Prader Willi Syndrome where it's uh again, agentic condition, it's caused by a loss of function of this particular gene that's mentioned on the side. Um And specifically the copy that's inherited from the mother is not inherited from the mother. So it's either uh a mutation or both the genes are basically contributed at this part of the chromosome. Both of them are uh contributed by the father rather than the mother. So it's kind of opposite of pra where both are inherited from the mother with a, a deletion. And uh one of the specific features of this is where the um offspring, they a appear really fascinated with water. Uh and they have a very happy, happy demeanor and widely spaced teeth. So these three features can help um point uh point out the syndrome in exams. Uh Again, they have learning disabilities, uh coordination and balance issues. Um They have associated ADHD perhaps epilepsy. Um And uh yeah, so these are very nonspecific features. But when they, when it does come up in exams where uh the offspring uh has very unusual fascination with water, a very happy demeanor, a widely spaced teeth. Um then it can help and they can give clues about how the inheritance pattern was only from the the father. Then you can think about the syndrome next slide. This so um the next condition I'm gonna talk about is Noonan syndrome. Uh and this is most commonly um kind of like an opposite uh condition to male turner syndrome, one might say uh because it has kind of similar features, it's an autosomal dominant disorder and it can affect both males and females. Um And there are a few dissors, dysmorphic features that are associated with the syndrome. So, uh again, a short stature, uh a broad forehead, um there's a wide space between the eyes, uh the prominent nasolabial fos uh web neck and widely spaced nipples as well. A few associated conditions then. So um they can present with pulmonary valve stenosis, a SDS. Um sometimes uh the offspring can have undescended testes that can lead to infertility, learning disabilities, um then increased risk of leukemias as well. And most patients usually for these heart conditions, they might need uh corrective heart surgery or in the early stages of life. Next slide please. So Williams syndrome then uh it's basically caused by a deletion on one copy of chromosome seven. and very typical features would be starburst appearance of the eyes um and especially a star like appearance on the iris. Um More about these, no, I'm not gonna talk about these nonspecific features, but they do uh these kids with Williams syndrome, they typically have a very sociable personality and then the Starburst eyes can help differentiate, uh can help point out uh this syndrome as well again with a wide mouth and a very big smile, uh the associated conditions. So, uh this um like supravalvular aortic stenosis and hypercalcemia, some of the two key points that you need to remember as associations with Williams syndrome. And in terms of monitoring this then, so they have echocardiograms and BP monitoring at uh regular intervals um and a low calcium diet because they're more prone to hypercalcemia. So, uh it's recommended that the Children with Williams syndrome or um uh have to follow a low calcium diet next slide. So, fra Fragile X Syndrome, uh it's uh basically associated with an expansion of the C GG trinucleotide repeat. Um and it's inherited in an excellent dominant fashion. Uh and again, uh in Fragile X Syndrome, it results in a spectrum of intellectual disabilities. Um they can uh present with an elongated face as you can see in this picture here. Um they can have a very broad forehead, uh crossed eyes, highly arched palate. Um and then, uh again, the tone can be, they have, they can have very low muscle tone as well. Um and they uh a lot of behavioral characteristics um and stereotypic movements like hand flapping. Uh that can uh that kids with fragile x syndrome can present with uh next slide, please. Ok. So uh we're coming to the last few gender conditions. Uh So the George syndrome or Digeorge syndrome is a 22 Q 11 syndrome. So what that means is just touching up on basic sense. So, as you can see here, the chromosomes here on the right hand side, they are attached by the centrum here in the center where 22 refers to the chromosome number. So 1 to 23. So 22 would be the 22nd chromosome uh Q. Uh So there's P and Q arm. So the P is the short arm of the chromosome Q being the long uh the bottom half of this chromosome, which is the longer end. So that basically locates it to the lower end of the chromosome and 11.2. Uh most specifically 11 is a basically a specific location within the Q arm which is affected. Uh in the George Syndrome. Uh and um this syndrome can be associated with a number of cardiac abnormalities like uh tetralogy of follow. Uh um and uh but as you know, it, tetralogy of follow, it presents with four a combination of four things. So, pulmonary stenosis, an overriding aorta ventricle septal defect and a right ventricle hypertrophy as well. Uh They can have uh dysmorphic facial features uh and uh cleft palate and they can present with hypocalcemia. So, as opposed to Williams syndrome, where they're more prone to hypocalcemia syndrome is more for hypocalcemia, hypo parathyroidism. So it's basically a deficiency of also even a thymic aplasia. So they have t cell deficiencies. Uh So that's more typical of the George syndrome. Basically. Next slide, please. So, uh Marfan syndrome then. So Marfan syndrome is an autosomal dominant condition and it's caused by mutations in the FBN one gene on chromosome 15, which is something you don't have to remember. But um more basically, you have to uh kind of remember that it's a misfolding of the fibril in one which is responsible for the elastic fibers in connective tissues. So, bec because there's a mutation in this gene that codes for the fibri. Then um there is disorders with connect this connective tissue disorder. Basically. So, dissors, dysmorphic features are all related to the mutation in this misfolding of the fibrillin. Uh They can have a very tall stature, long neck, long limbs, long fingers, um uh they have very hypermobile joints. Um And so if you see in this picture here, one of the most common tests that you can identify if a patient has Marfan syndrome. Um So if, if they fold their thumb into a closed fist and the, the thumb protrudes out or extends across the palm of their hand, um then it's test positive for Marfans. Um And if, uh if gripping the wrist, uh gripping one of your wrists with an opposite hand, and if the thumb and fifth finger of the hand overlap with each other, then it's again, a positive sign. Again, it doesn't completely indicate uh Marfans, but it's more suggestive that this patient um might have it. So some associated conditions then, so uh they can have lens dis dislocation in the eye, uh joint dislocations because of the very um hypomobile and lax joints. Um they're more prone to pneumothorax, um gastroesophageal reflux because the sphincters are not strong enough. Um And uh uh and they can have associated uh cardiac issues as well. So um more commonly uh aortic regurge, they can present with prolapses of the mitral valve and the aortic valve which can present with regurge. Um So, in any case, if they hit hypermobile and they have a murmur which is more suggestive of aortic or mitral regurg, then that points towards Marfan Syndrome. Uh Next slide, please. Yeah. So management, then in terms of management, um the greatest risk uh of patients. Uh the greatest risk is from this associated cardiac issues such as the uh regurg issues and mainly it can be only corrected by surgical intervention. Um but in terms of prophylaxis, so it's kind of a a prophylactic measure to help minimize BP and heart rate because they're more prone to aneurysms. And because if the BP is too high and these aneurysms can burst. And um so basically it prevents uh dissections or um, yeah, in general, just they're more prone to dissection. So, to control that BP and heart rate and minimize that stress in the heart. Um, and kind of uh in later stages of their life to give them medications like beta blockers or Arbs that can help, um, bring down the BP. And um, it's very important, um, patients with uh who want to consider pregnancy, um, they carry a significant risk of developing aortic aneurysms and it's more like BP issue where they can, which can result in dissections. Uh So trying to care, careful concentration of those. Um, and uh these Children are kind of uh followed up on a yearly basis with regular echocardiograms and followed up by the ophth ophthalmologist as well because of their high risk of like lens dislocation and uh problems or issues with their eyesight. Yeah. Next slide. Thank you. Uh So, um, achondroplasia. So, uh many of you might have heard this already. So this is a mutation in uh something called as fibroblast, uh growth factor receptor three, which is an autosomal dominant condition where you can have um a very large and prominent forehead um and uh normal size torso. Um So, uh it's basically uh um another term for like dwarfism uh where you can have shortening of the proximal limbs, uh short ribs, short fingers, a large head with a very prominent uh forehead. Um They can have issues with their spine um and they can have various leg deformities as well. Um And they're more prone as well to ear infections and uh more prone to obstructive sleep apnea and hydrocephalus as well. Next. Yeah. So, um the last condition that I'm gonna talk about is osteogenesis, imperfecta. Um And this is a group of disorders which basically affect the uh gene coding for collagen. Uh most commonly type one collagen. And um and the most common one which is the type one collagen there is, it presents as an autosomal dominant way. So the the most typical features would be a blue appearance to the sclera. And this can typically uh you can get it in exams where they say um uh patient uh has had a fracture, they're more prone to uh having multiple admissions because of their fractures and they have blue, blue tinting of the sclera as well. So, uh that typically points towards this condition and uh you, the main uh thing here is also they have bones um wormian bones, which is basically um extra bone pieces that can occur within like the, the suture joint in the skull. And um the treatment for this uh alongside a multidisciplinary team approach, it would be treatment with bisphosphonates uh to help reduce the fracture rates. And um uh the fractures uh require splinting to prevent like joint deformities in the later stages of life. Um A most severe form would be a mutation um in the uh type two collagen with which can present with multiple uh fractures uh before birth itself and they're highly uh unlikely to survive. Um And it's inherited again, I should have said in the start itself, it's inherited in an autosomal dominant fashion. Um Yeah, so that's the end of the presentation. Um um Well, thank you very much for doing the presentation today. Um If I just stop the Yes. Um Yeah, I'll put it up as like an on demand content so that people can join and watch um tender recordings on their own time. Yeah. Um I'm sorry about the attendant today. Um No, it's OK. I don't know what happened there, but um yeah. Um I will do, I'll upload the recordings and the slides so that, you know, people can do that on their own time. So hopefully the numbers and our feedback forms will go up for a bit and um yeah, thank you very much for doing the talk today. Yeah. Thank you. Thank you. Bye.