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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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