Post on 18-Oct-2020
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Quelques anomalies
(la plupart vues en reel: sur la rue, a la clinique, a l’ecole, inconnus, patients, camarades, etc.)
Nobody’s perfect: we all carry genetic variants that may cause diseases
1rst Frame: In this first frame, a normal facies is at the middle
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2nd Frame set:ABOVE: Facial features of children with (top to bottom, left to right)
Alagille, Fragile X a second aspect from smaller patient, Williams, Aperts, Crouzon,
Rubenstein , ... syndromes and Trisomy 18 (mild and severe forms). -
Fragile X; http://www.freewebs.com/rogerqualo/FragileX.pdf
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rd
Frame: Fetal alcohol and Williams syndromes (full cheeks; in the foetal
alcohol syndrome there are small palpebral fissure, upturned nose, low nasal
bridge, flat midface, microcephaly, smooth philtrum, railroad [auricle] ears,
underdeveloped jaw. Dans le syndrome alcoolique foetal, les anomalies sont
crees par la mere qui a ete une alcoolique, au cours de la grossese; la face est
anomalement petite et non proportionelle au reste du corps, les yeux
paraisssent petits par suite la fente palpebrale petite; toutes les anomalies
peuvent ne pas etre presentes;
http://www.freewebs.com/rogerqualo/FETAL_ALCOHO.pdf.
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http://www.freewebs.com/rogerqualo/Williams.pdf
4th Frame: Quelques anomalies (vues en reel), pas toutes sur la meme personne
le plus souvent ([lordose] [vu assez souvent]; la lordose conduit a des fesses
anormalement elevees ou pointant en arriere;, genoux bascules en arriere (vu sur
un ami d’enfance) En fait, cette image a des erreurs, car la lordose est
confondue avec le dos en bascule (“sway back”). La suivante est plus correcte:
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5th Frame: Sur cette image, un commentaire incorrect est que la lordose est
appelee lordose lombaire. Cependant, la lordose lombaire n’est pas une
anomalie, mais est une position anatomique normale du squelette axial et du
bassin, chez les humains. De meme, la maladie appelee cyphose n’est pas la
cyphose dorsale qui, elle, est naturelle.
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6th Frame: lordose - dos plat - dos bascule en arriere - posture et position
anatomiques, normales du sexe masculin
7th Frame: La premiere a une lordose pas un “sway back”; certaines femmes se
trouvent joiles et sexuellement attirantes avec cette anomalie, mais cette position
anatomique peut etre tres prononcee et creer la laideur; elle favoriserait la
spondylarthrite ; l’anamaliepeut exister avec d’autres, en particulier du visage
qui enlaidit serieusement l’individu.
8th Frame: Scoliose
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9th Frame: Fragile X syndrome (FXS): Syndrome de l’X Fragile: 200 repeats ;
tres severe - 55 to 200 repeats: moins severe - 45 to 54 repetitions genetiques:
modere - 6 to 44 repetitions: leger. Pour toutes les maladies genetiques , y
compris le mongolisme, c’est une image quasi similaire et j’ai pu le constater,
dans la realite, pour la trisomie 21, pour le syndrome de Marfan [un gene
dominant de chromosomes autonomes] et pour la lordose d’origine genetique.
“Inheriting a disease, condition, or trait depends on the type of chromosome
affected (autosomal or sex chromosome). It also depends on whether the trait is
dominant or recessive. A single abnormal gene on one of the first 22 nonsex
(autosomal) chromosomes from either parent can cause an autosomal
disorder.”
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10th Frame: faces et calvaires normaux (2ieme photo non entierement de face)
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11th Frame: le developpement de la craniosynostose; la presence de la
craniosynostose peut etre diagnostiquee comparatuvement; en fait elle l’est
toujours de cette facon
http://www.freewebs.com/rogerqualo/Trisomy21.pdf
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Autres Causes de la Petite Taille
Anormale http://www.freewebs.com/rogerqualo/Nanisme.pdf
Grande Taille Anormale
MARFAN’s SYNDROME
http://www.freewebs.com/rogerqualo/MARFAN.pdf
Une autre cause de gigantisme est l’hyperpituitarisme ou la croissance
osseuse est symmetrique. Apres la croissance osseuse et l’ossifictaion du
cartilage de croissance l’hyperpituitarisme cause l’acromegalie , une
croissance anormale de certains os. ‘Acromegaly, chronic disease marked
by overgrowth of hands, feet, and lower part of the face, “ (En Carta 98)
http://www.freewebs.com/rogerqualo/GiganAc.pdf
HUNTINGTON’s DISEASE
Huntington’s disease is an orphan disease with an estimated 30,000 patients and 250,000
individuals at risk for inheriting the genetic defect that causes the disorder. HD is largely
unknown to the populace, or even within the medical community. When people do learn about
HD, they are shocked by the way this genetic brain disorder robs its victims of their humanity,
leaving them twitching nervously, emaciated, and unable to walk, talk, and eat. The possible
genotypes for a parent of a person affected by Huntington's Disease could be Hh
or HH. Huntington's disease is autosomal dominant so only one copy of the defective
gene is necessary to inflict the offspring with Huntington's Disease.
In 2009, James’ 47-year-old brother John was diagnosed with HD after experiencing
symptoms first thought to be Parkinson’s and/or the results of a stroke. Soon thereafter,
James, who turns 40 this July, also tested positive for HD. He now had an explanation for his
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own health problems, which stretched back at least five years: shaking legs and occasional
twitching in his right arm.
Combating discrimination
HYPOTHYROIDISME ET CRANIOSYNOSTOSE
Maternal Thyroid Disease During Pregnancy or Its Treatment:
Possible Risk Factor for Craniosynostosis in the child
“Excess thyroid hormone might lead to premature cranial suture fusion, but the
results are preliminary. Congenital hypothyroidism is associated with delayed
closure of the fontanelles. In addition, thyroid hormone is known to play a key
role in normal bone metabolism, acting on both osteoblasts and osteoclasts. This
information suggests that excess thyroid hormone might lead to premature
cranial suture fusion,”
“Three hypothyroid children with premature craniosynostosis are presented... “
Is there a relation between craniosynostosis and unbalanced B12?
Craniofacial Syndromes [Craniofacial.htm]
What are craniofacial syndrome?
Illnesses that cause craniofacial syndromes:
Crouzon, Apert, Pfeiffer, Saethre-Chotzen, Carpenter, Pierre Robin
Syndrome, Hemifacial Deformity
http://www.freewebs.com/rogerqualo/Crouzon.pdf
Congenital Syphilis
http://www.freewebs.com/rogerqualo/SyphilisPH.htm
Normal & abnormal ear anatomies:
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14th Frame
Prader Willi syndrome
http://www.freewebs.com/rogerqualo/Prader_Willi.pdf
ALBINISME: http://www.freewebs.com/rogerqualo/Albininism.pdf
PHENYLKETONURIA: http://www.freewebs.com/rogerqualo/PHENYLKETONU.pdf
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