Many diagnoses are possible by just looking at the patient's face. Some examples are given below— 1. Myxedematous or Torpid Facies—Patient have expressionless face & apathetic look.Face is puffy with periorbital swelling, boggy eyelids and loss of outer 1/3 rd of the eyebrows. Xanthelasmas may be present. Skin is cool & dry. There may be malar flush. 2. Thyrotoxic face or Graves’ disease— Patient appears anxious, restless and fidgety. Unilateral or bilateral proptosis. Thyroid gland may be diffusely enlarged. 3. Cretinism—Congenital Hypothyroidism. Mental retardation results in idiotic look on face. Coarse skin with thick lips, large ears. 4. Cushingoid face— Rounded, plethoric face giving rise to moon face appearance. There may be hirsutism and acne. 5. Acromegalic face— Coarse facial features with prominent supraorbital ridges. Increased wrinkling of the forehead. Jaw is protruded forward (Prognathism). Nose, lips and ears are large. 6. Dermatomyositis - Heliotrope rash which is a purplish color or lilac rash, but may also be red. It can occur around the eyes along with swelling but also occurs on the upper chest or back what is called the "shawl" (around the neck) or "V-sign" above the breasts and may also occur on the face, upper arms, thighs, or hands. 7. Systemic Lupus Erythematosus - Photosensitive rash over both cheeks and bridge of the nose, popularly known as ‘Butterfly Rash’. 8. Systemic Sclerosis - kin is smooth, shiny & tight with hypopigmented and hyperpigmented areas. Nose is pinched up and tapered (beaking of nose, bird beak). Loss of wrinkling of forehead. Lips are thin, pursed with puckered skin around mouth. Mouth orifice is small (microstomia). 9. Thalassemic Facies - Expanded globular maxillae, due to bone marrow hyperexpansion into facial bones, combined with prominent epicanthal folds & frontal bossing. This facies is also called ‘Chipmunk Facies’. 10. Parkinsonian Facies - Mask like, expressionless face with absent/reduced blinking of eyes, staring & vacant look, and dribbling of saliva. Weakness of upward gaze, seborrhoea and sweatiness. 11. Myopathic Facies - Frontal baldness. Bilateral ptosis. Long, lean, triangular (Hatchet facies), sad and expressionless face with wasting of temporalis and masseter. 12. Myasthenic facies - Snarling facies’ in Myasthenia gravis is due to ptosis (usually bilateral) & drooping of corners of the mouth, and weakness of the facial muscles. There is usually frontalis overactivity to compensate for ptosis. 13. Down’s syndrome— Flat appearing face, small head, flat bridge of the nose, smaller than normal, low-set nose, small mouth which causes the tongue to stick out and to appear overly large, upward slanting eyes, epicanthal fold, rounded cheeks, small misshapen ears. 14. Turner Syndrome - Short and webbed neck, low hairline and redundant skinfold on the back of neck. Small lower jaw (micrognathia), small and fish-like mouth with low set, deformed ears. 15. Marfanoid face - Face is long, lean, elongated and narrow with small jaw leading to crowding of teeth, and high arched palate. 16. Mitral facies - Malar flush is Rosy, flushed cheeks and dilated capillaries. 17. Nephrotic face - Puffy face with periorbital swelling. 18. Sarcoidosis - Lupus pernio is found in sarcoidosis. It is a chronic raised indurated (hardened) lesion of the skin, often purplish in color. It is seen on the nose, ears, cheeks, lips, and forehead. 19. Bell's palsy - Rolling up of eye on affected side when try to close eye is the Bell’s sign. Moreover, there is loss of wrinkling on forehead, nasolabial fold on effected side. 20. Leonine face - Seen in Lepromatous leprae. Skin of the face and forehead is thick and corrugated. Multiple nodules of variable sizes and shapes involving ear lobule, face and nose. 21. Achondroplasia—Short stature. Skull appears enlarged. ................................................................... Please Visit & Subscribe Our Channel for Latest Videos: https://www.youtube.com/lastsecondmedicine Visit us on Facebook: https://www.facebook.com/lastsecondmedicine Follow us on Twitter: https://twitter.com/Last_Second_Med Support us on Patreon: https://www.patreon.com/lastsecondmedicine Please Leave you valued suggestion in Comments. Background Music Courtesy: TITLE: Colourful spots ARTIST: Nicolai Heidlas
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. Subscribe - https://goo.gl/w5aaaV. More videos - https://goo.gl/UhOKiM. Support us on Patreon - https://goo.gl/ZGHEk4. This video covers the three main mechanisms leading to trisomy 21—nondisjunction, Robertsonian translocation, and mocaicism, as well as the more common complications and physical characteristics. Subscribe - http://www.youtube.com/channel/UCNI0qOojpkhsUtaQ4_2NUhQ?sub_confirmation=1 This video is brought to you by Osmosis. Along with providing open-access videos, Osmosis offers a comprehensive e-learning platform that connects med students with thousands of flashcards and quiz questions, depending on each student's needs. Ever wish information would just diffuse into your brain? Well, Osmosis helps make that possible—don't learn it, osmose it! https://www.osmosis.org/ Support us on Patreon! - https://goo.gl/izRx2z We also have free practice questions for the USMLE and NCLEX-RN exams here: https://goo.gl/3oGOEi Also, we're social: Facebook - https://www.facebook.com/OsmoseIt/ Twitter - https://twitter.com/osmoseit Got feedback? We'd love to hear it! http://goo.gl/forms/T6de48NVzR This video is licensed under a Creative Commons CC-BY-SA 4.0 international license, which means that you're free to share and adapt it so long as you follow the Attribution and ShareAlike terms and conditions! Resources: Robbins Basic Pathology (text) First Aid (text) Biology—the dynamic science (text) http://www.uptodate.com/contents/down-syndrome-clinical-features-and-diagnosis?source=search_result&search=down+syndrome&selectedTitle=1~150 http://emedicine.medscape.com/article/943216-overview#a5 https://en.wikipedia.org/wiki/Down_syndrome https://en.wikipedia.org/wiki/Nondisjunction https://en.wikipedia.org/wiki/Robertsonian_translocation Credits: Script/audio/visuals: Tanner Marshall, MS Reviewer: Rishi Desai, MD, MPH Attributions: Blood squirt sound effect by Mike Koenig - http://soundbible.com/828-Blood-Squirt.html
Note the cross eyed appearance of right eye in top image that corrects with elimination prominent epicanthal fold 14 oct 2015 pseudoesotropia is a condition which alignment eyes straight (also known as orthotropic); However, they appear to be crossed 30 sep 2014. Pseudostrabismus diagnosis, treatment and preventiondefinition of pseudoesotropia by medical dictionarypseudo esotropia is the false impression that eyes are crossed. Pseudostrabismus san antonio eye center. Googleusercontent search. When the eyes are actually crossed or not completely aligned with one another it is called in pseudoesotropia, appear to be but straight. This illusion of crossing is caused by the infant's facial appearance where folds skin while less common than pseudoesotropia, it also often due to structures. This is a common condition in infants and young children generally due to their pseudostrabismus the false appearance of crossed eyes. Pseudoesotropia, pseudostrabismus atlas of ophthalmology. Pseudostrabismus refers to a false appearance of strabismus caused by pseudo esotropia is the impression that eyes are crossed. Pseudoesotropia background, pathophysiology, epidemiologypseudoesotropia clinical presentation history, physical, causespseudostrabismus in children & infants what is pseudostrabismus? Eye vision sharecare. Children with widely set eyes can appear as if their are drifting out diagnosis pseudoesotropia, pseudostrabismus. The light reflext are symmetrically centered in both pupils 1 nov 2008 the child has pseudostrabismus (pseudoesotropia) false appearance of strabismus when, fact, eyes orthotropic pseudoexotropia like pseudoesotropia, certain morphological features face can result a to be drifted outwards simple cover test each eye separately will elicit no movement uncovered eye, confirming diagnosis pseudoesotropia related epicanthal folds is where appears turning inwards and may due wide bridge nose or small distance between. Pseudoesotropia background, pathophysiology, epidemiology pseudoesotropia epidemiology emedicine. Comment to photo patient is referred for esotropia. Medscape article 1199610 overview url? Q webcache. This common condition in infants and young children is generally due to facial 2 nov 2002 because there more white space visible on the outside half of eyes, eyes appear turn inward (pseudoesotropia). This illusion of crossing is caused by the infant's facial appearance where folds skin [pdf] pseudostrabismus san antonio eye center. 14 oct 2015 pseudoesotropia is a condition in which the alignment of the eyes is straight (also known as orthotropic); However, they appear to be crossed. Pseudostrabismus (pseudoesotropia) pseudostrabismus medigoo health medical tests and online common types of strabismus ncbi nih. However, light a vertical fold of skin on either side the nose, sometimes covering inner canthus; A normal characteristic in persons certain races, but anomalous what is pseudostrabismus? Strabismus medical term for any
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
(Visit: http://www.uctv.tv/) Cathleen Small, MA. Medical Outreach Alliance Coordinator and Legislative Advocate, Down Syndrome Connection of the Bay Area. Series: "Developmental Disabilities 2017 Update" [Show ID: 32204]
What is PSUEDOSTRABISMUS? What does PSEUDOSTRABISMUS mean? PSEUDOSTRABISMUS meaning - PSEUDOSTRABISMUS definition - PSEUDOSTRABISMUS explanation. Source: Wikipedia.org article, adapted under https://creativecommons.org/licenses/by-sa/3.0/ license. SUBSCRIBE to our Google Earth flights channel - https://www.youtube.com/channel/UC6UuCPh7GrXznZi0Hz2YQnQ Pseudostrabismus is the false appearance of crossed eyes. When the eyes are actually crossed or not completely aligned with one another it is called strabismus. Pseudostrabimus generally occurs in infants and toddlers whose facial features are not fully developed. The bridge of their nose is wide and flat, creating telecanthus (increased distance between medial canthus of both eyes). With age, the bridge will narrow and the epicanthic folds in the corner of the eyes will go away. This will cause the eyes to appear wider, and thus not have the appearance of strabismus. To detect the difference between strabismus and pseudostrabismus use a flashlight to shine into the child's eyes. When the child is looking at the light a reflection can be seen on the front surface of the pupil. If the eyes are aligned with one another then the reflection from the light will be in the same spot of each eye. If strabismus is present then the reflection from the light will not be in the same spot of each eye. Rakel's Textbook of Family Medicine states, "A common misconception is that children with crossed eyes outgrow the condition, but this is generally not the case. This belief stems from the confusion between true strabismus and pseudostrabismus. When a child's eyes are truly crossed, it is always a serious condition and requires the care of an ophthalmologist." Pseudostrabismus is more likely to be observed in Native American or East Asian infants due to the presence of epicanthic fold obscuring the medial aspect of the eye.
http://www.stomponstep1.com/trinucleotide-repeat-expansion-trisomy-21-translocations/ Down Syndrome (Trisomy 21) is a common cause of mental retardation. It is caused by nondisjunction during meiosis that leads to an extra chromosome 21 being present. Instead of having 46 chromosomes they have 47. Prenatal screening shows increased nuchal ridge on ultrasound (increased nuchal translucency) as well as decreased alpha feta protein (AFP) and increased human chorionic growth hormone (hCG) in the blood of the mother. Down Syndrome is associated with: • Acute Lymphoblastic Leukemia (ALL) • Alzheimer's • Atrial Septal Defects • Simian crease (horizontal crease across palm) • Facial abnormalities (Flat facial features & prominent & prominent epicanthal folds) • Duodenal Atresia Chromosomal Translocation is when non-homologous chromosomes "swap" sections. It is the abnormal form of crossover during mitosis or meiosis. Genetic material can be added or lost during this process. When genes are moved to a new area they may also be regulated by a new set of control mechanisms (like a new promoter) which will affect how much of the resulting protein is created. Here are some high yield examples which will be covered in the organ system sections: • t(8:14) = Burkitts Lymphoma • t(11:14) = Mantle Cell Lymphoma • t(14:18) = Follicular Lymphoma • t(8:21) = AML • t(9:22) = CML • t(15:17) = APL Trinucleotide Repeat Expansion is where abnormal DNA replication causes a repetitive section of DNA to be enlarged. For example, a gene may have a certain 3 nucleotide code repeated a dozen times normally, but be repeated hundreds of times in a trinucleotide repeat disorder. It is as if the DNA replication machinery gets "stuck" on a certain section and repeats it too many times. The severity and age of onset of these diseases can be predicted by the number of repeats present (more repeats is worse). The highest yield disorders of this type are Huntington's Disease (CAG repeats) and Fragile X Syndrome (a form of mental retardation with facial abnormalities). Anticipation is when genetic disorders have an earlier onset in each subsequent generation. Anticipation is seen primarily in trinucleotide repeat expansion disorders and is due to the number of repeats increasing in later generations. This phenonmenon is observed because the presence of a high number of trinucleotide repeats increases the likelihood of errors during replication. In other words the mutation itself causes further mutation. Now that you have finished the Genetics section you should check out the next section which covers Vitamins (http://www.stomponstep1.com/vitamins/)
What is Potter sequence? Potter sequence, or sometimes oligohydramnios sequence, is a neonatal condition in which too little amniotic fluid causes developmental complications. Subscribe - https://goo.gl/w5aaaV. More videos - https://goo.gl/UhOKiM. Support us on Patreon - https://goo.gl/ZGHEk4. This video is brought to you by Osmosis. Along with providing open-access videos, Osmosis offers a comprehensive e-learning platform that connects med students with thousands of flashcards and quiz questions, depending on each student's needs. Ever wish information would just diffuse into your brain? Well, Osmosis helps make that possible—don't learn it, osmose it! https://www.osmosis.org/ We also have free practice questions for the USMLE and NCLEX-RN exams here: https://goo.gl/3oGOEi Also, we're social: Facebook - https://www.facebook.com/OsmoseIt/ Twitter - https://twitter.com/osmoseit Instagram - @osmosismed Got feedback? We'd love to hear it! http://goo.gl/forms/T6de48NVzR This video is licensed under a Creative Commons CC-BY-SA 4.0 international license, which means that you're free to share and adapt it so long as you follow the Attribution and ShareAlike terms and conditions! Our supporters: Omar Berrios Alex Wright
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
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.