How to Understand Down Syndrome | Baby Development

How to Understand Down Syndrome | Baby Development

Watch more Newborn & Baby Development videos: http://www.howcast.com/videos/506167-How-to-Understand-Down-Syndrome-Baby-Development Down syndrome is also known as trisomy 21. It's a genetic defect in the baby. Parents always want to know what is the prognosis of Down syndrome, and every Down syndrome baby has a different course. There are some common features to Down syndrome. The babies usually have wonderful personalities, and they're very warm as children. Down syndrome babies have typical facial features. They can have epicanthal folds over their eyes. They can have a large tongue. They often have a simian crease along their hands. They can have an extra wide space between their toes. Some Down syndrome babies have clinodactyly, which is a curvature of the fifth digit on each finger, and sometimes on the toes as well. Not all Down syndrome babies have the same findings. More importantly than the physical features are the heart defects. Many Down syndrome babies have congenital heart defects. The most common one is a VSD, ventricular septal defect. And another one that is very common in Down syndrome is an endocardio cushion defect. It is imperative, if you have a baby with Down syndrome, that you have a cardiology visit once a year. Babies with Down syndrome are also at increased risk for leukemias. Your pediatrician will be very well-versed in taking care of a Down syndrome baby and making sure that your baby is kept up to date as far as screenings for leukemia, heart defects, and other problems including low tone and physical therapy that the baby might need throughout their life.

Down Syndrome

Down Syndrome

ABNORMALITIES General. Hypotonia with tendency to keep mouth open and protrude the tongue, diastasis recti, hyperflexibility of joints, relatively small stature with awkward gait, increased weight in adolescence. Central Nervous System. Intellectual disability. Craniofacial. Brachycephaly; mild microcephaly with upslanting palpebral fissures; thin cranium with late closure of fontanels; hypoplasia to aplasia of frontal sinuses, short hard palate; small nose with low nasal bridge and tendency to have inner epicanthal folds. Eyes. Speckling of iris (Brushfield spots) with peripheral hypoplasia of iris; fine lens opacities by slit lamp examination (59%); refractive error, mostly myopia (70%); nystagmus (35%); strabismus (45%); blocked tear duct (20%); acquired cataracts in adults (30% to 60%).Ears. Small; overfolding of angulated upper helix; sometimes prominent; small or absentearlobes; hearing loss (66%) of conductive, mixed, or sensorineural type; fluid accumulation in middle ear (60% to 80%). Dentition. Hypoplasia, irregular placement, fewer caries than usual, periodontal disease. Neck. Short with loose folds of skin. Hands. Relatively short metacarpals and phalanges; hypoplasia of midphalanx of fifth finger (60%) with clinodactyly (50%), a single crease (40%), or both; simian crease (45%); distal position of palmar axial triradius (84%); ulnar loop dermal ridge pattern on all digits (35%). Feet. Wide gap between first and second toes, plantar crease between first and second toes, open field dermal ridge patterning in hallucal area of sole (50%). Pelvis. Hypoplasia with outward lateral flare of iliac wings and shallow acetabular angle. Cardiac. Anomaly in approximately 40%; endocardial cushion defect, ventricular septal defect, patent ductus arteriosus, auricular septal defect, and aberrant subclavian artery, in decreasing order of frequency; mitral valve prolapse with or without tricuspid valve prolapse and aortic regurgitation by 20 years of age; risk for regurgitation after 18 years of age. Skin. Cutis marmorata, especially in extremities (43%); dry, hyperkeratotic skin with time (75%); infections in the perigenital area, buttocks, and thighs that begin as follicular pustules in 50% to 60% of adolescents. Hair. Fine, soft, and often sparse; straight pubic hair at adolescence.Genitalia. Relatively small penis and decreased testicular volume; primary gonadal deficiency is common and progressive from birth to adolescence and is definitely present in adults. Although rare, cases of fertility in females have been reported; no male has reproduced

Live Surgery: Upper Eyelid Reconstruction - Tenzel Flap

Live Surgery: Upper Eyelid Reconstruction - Tenzel Flap

www.MPSurgery.com www.hand411.com This is an example of an upper eyelid reconstruction following cancer resection. The lid is too tight to close primarily which can lead to entropion. The tenzel flap is a method to recruit tissue to the eyelid to complete closure.

DELETION 5P SYNDROME

DELETION 5P SYNDROME

Cat-Like Cry in Infancy, Microcephaly, Downward Slant of the Palpebral Fissures Growth. Pre- and postnatal growth deficiency with respect to length, weight, and head circumference. Performance. Intellectual disability; cat-like cry at birth, throughout the first year of life, and later; timbre of voice (shrill, sometime hoarse) abnormal in most adolescents; hypotonia in infancy, replaced later by hypertonia; hyperactivity. Craniofacial. Round face, metopic ridging, hypertelorism, epicanthal folds, downslanting palpebral fissures, strabismus, downturned corners of mouth, short philtrum, micrognathia, low-set poorly formed ears, facial asymmetry. Cardiac. Most commonly ventricular and atrial septal defects, patent ductus arteriosus. Hands. Simian crease, distal axial triradius, slightly short metacarpals

Epicanthal fold - Medical Definition

Epicanthal fold - Medical Definition

https://word2speech.com/medical/ Epicanthal fold Epicanthal fold: A fold of skin that comes down across the inner angle of the eye. Epicanthal folds appear most frequently in persons with Down syndrome and some other constellations of birth defects. To the untrained eye, an epicanthal fold may look similar to the eye fold found in peoples of Asian origin, but the normal Asian eye fold is actually quite distinct, whereas an epicanthal fold is continuous with the lower edge of the upper eyelid. How to pronounce, definition of, audio dictionary, medical dictionary

The Palpebral Fissure

The Palpebral Fissure

Trisomy 18 syndrome

Trisomy 18 syndrome

General. Feeble fetal activity, weak cry, altered gestational timing; one third premature, one third postmature; polyhydramnios, small placenta, single umbilical artery, growth deficiency; mean birth weight, 2340 g; hypoplasia of skeletal muscle, subcutaneous and adipose tissue; mental deficiency, hypertonicity (after neonatal period); diminished response to sound. Craniofacial. Prominent occiput, narrow bifrontal diameter; low-set, malformed auricles; short palpebral fissures; small oral opening, narrow palatal arch; micrognathia. Hands and Feet. Clenched hand, tendency for overlapping of index finger over third, fifth finger over fourth; absence of distal crease on fifth finger with or without distal creases on third and fourth fingers; low-arch dermal ridge pattern on six or more fingertips; hypoplasia of nails, especially on fifth finger and toes; short hallux, frequently dorsiflexed. Thorax. Short sternum, with reduced number of ossification centers; small nipples. Abdominal Wall. Inguinal or umbilical hernia and/ or diastasis recti. Pelvis and Hips. Small pelvis, limited hip abduction. Genitalia. Male: cryptorchidism.Skin. Redundancy, mild hirsutism of forehead and back, prominent cutis marmorata. Cardiac. Ventricular septal defect, auricular septal defect, patent ductus arteriosus.Craniofacial. Wide fontanels, microcephaly, hypoplasia of orbital ridges; inner epicanthal folds, ptosis of eyelid, corneal opacity, retinal folds, retinal hypopigmentation, dysplasia and areas of hemorrhage and gliosis; cleft lip, cleft palate, or both. Hands and Feet. Ulnar or radial deviation of hand, hypoplastic to absent thumb, simian crease; equinovarus, rocker-bottom feet, syndactyly of second and third toes. Thorax. Relatively broad, with or without widely spaced nipples. Genitalia. Female: hypoplasia of labia majora with prominent clitoris. Anus. Malposed or funnel-shaped anus. Cardiac. Bicuspid aortic and/or pulmonic valves, nodularity of valve leaflets, pulmonic stenosis, coarctation of aorta. Lung. Malsegmentation to absence of right lung. Diaphragm. Muscle hypoplasia with or without eventration. Abdomen. Meckel diverticulum, heterotopic pancreatic and/or splenic tissue, omphalocele. Incomplete rotation of colon. Renal. Horseshoe defect, ectopic kidney, double ureter, hydronephrosis, polycystic kidney.

Down syndrome (trisomy 21) - causes, symptoms, diagnosis, & pathology

Down syndrome (trisomy 21) - causes, symptoms, diagnosis, & pathology

What is Down syndrome (trisomy 21)? Down syndrome is a set of symptoms that arise from a genetic abnormality, in which an individual's cells have an extra copy of chromosome 21. Find more videos at http://osms.it/more. Hundreds of thousands of current & future clinicians learn by Osmosis. We have unparalleled tools and materials to prepare you to succeed in school, on board exams, and as a future clinician. Sign up for a free trial at http://osms.it/more. Subscribe to our Youtube channel at http://osms.it/subscribe. Get early access to our upcoming video releases, practice questions, giveaways, and more when you follow us on social media: Facebook: http://osms.it/facebook Twitter: http://osms.it/twitter Instagram: http://osms.it/instagram Our Vision: Everyone who cares for someone will learn by Osmosis. Our Mission: To empower the world’s clinicians and caregivers with the best learning experience possible. Learn more here: http://osms.it/mission Medical disclaimer: Knowledge Diffusion Inc (DBA Osmosis) does not provide medical advice. Osmosis and the content available on Osmosis's properties (Osmosis.org, YouTube, and other channels) do not provide a diagnosis or other recommendation for treatment and are not a substitute for the professional judgment of a healthcare professional in diagnosis and treatment of any person or animal. The determination of the need for medical services and the types of healthcare to be provided to a patient are decisions that should be made only by a physician or other licensed health care provider. Always seek the advice of a physician or other qualified healthcare provider with any questions you have regarding a medical condition.

Potter sequence (pathogenesis)

Potter sequence (pathogenesis)

► Right Now! You can get access to all my hand-written hematology video notes (the notes that I use on my videos) on Patreon...There is a direct link through which you can view, download, print and enjoy! Go to https://www.patreon.com/medicosis Potter sequence is an terrible disease characterized by renal agenesis which leads to less (or no) urine production, leading to oligohydramnios (becuase amniotic fluid contains urine), and many defects therof due to the loss of the cushion effect of the amniotic fluid. Features include: epicanthal folds, broad nose, micrognathia, limb abnormalities such as; Genu varum, Sirenomelia (mermaid leg) and club foot. (Disclaimer: The medical information contained herein is intended for educational purposes only, and are not intended for diagnosis of any illness. If you think you may be suffering from any medical condition, you should talk to your doctor or seek immediate medical attention.)

Syndrome, Down - Medical Definition and Pronunciation

Syndrome, Down - Medical Definition and Pronunciation

https://www.amazon.com/Mosbys-Medical-Dictionary-Mosby/dp/0323414257?&_encoding=UTF8&tag=maturecolors2-20 Syndrome, Down Syndrome, Down: A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual. Down syndrome causes mental retardation, a characteristic facial appearance, and multiple malformations. It is associated with a major risk for heart malformations, a lesser risk of duodenal atresia (part of the small intestines is not developed), and a minor but still significant risk of acute leukemia. Hypothyroidism (low thyroid hormone levels) and celiac disease (gluten intolerance) are also more common in individuals with Down syndrome The chromosome abnormality that causes Down syndrome is trisomy 21, an extra copy of chromosome number 21. This means that instead of having the normal 2 copies of chromosome number 21, the person with Down syndrome has 3 copies of chromosome number 21. Confirmation of such a condition requires a chromosome study (analysis under the microscope of the chromosomes). A chromosome study is also valuable to rule in or out a translocation (a type of rearrangement) of chromosome 21 that can be heritable in which case it can give rise to more cases of Down syndrome in the family. The evaluation of the Down syndrome baby and the family by a medical geneticist is often useful. In Down syndrome there are certain characteristic features in the appearance which may individually be quite subtle but together permit a clinical diagnosis of Down syndrome to be made at birth. These signs of Down syndrome include slight flattening of the face, minimal squaring off of the top of the ear, a low bridge of the nose (lower than the usually flat nasal bridge of the normal newborn), an epicanthal fold (a fold of skin over top of the inner corner of the eye, which can also be seen less frequently in normal babies), a ring of tiny harmless white spots around the iris, and a little narrowing of the palate. There are many, many more minor malformations in Down syndrome. Down syndrome is also associated with a number of major malformations. For example, approximately a half of Down syndrome children are born with a heart defect, most often a hole between the two sides of the heart. For another example, Hirschsprung's disease (congenital aganglionic megacolon) which can cause intestinal obstruction occurs more frequently in children with Down syndrome than in other children. How to pronounce Syndrome, Down definition of Syndrome, Down audio dictionary How to say Syndrome, Down What is the meaning of Syndrome, Down Pronounce Syndrome, Down Medical dictionary Medical definition of Syndrome, Down

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