Medical constellations sample

MEDICALCONSTELLATIONS

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MEDICAL CONSTELLATIONS

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1ContentsCHROMOSOMES ................................................................................................................................................................................................................................................. 2CIRCLES .................................................................................................................................................................................................................................................................6NAMED DISEASES ............................................................................................................................................................................................................................................. 7LAWS ................................................................................................................................................................................................................................................................... 12MANEUVRER .................................................................................................................................................................................................................................................... 15LOCATION OF RECEPTORS......................................................................................................................................................................................................................... 17SIGNS ................................................................................................................................................................................................................................................................... 20SYNDROMES ..................................................................................................................................................................................................................................................... 28TESTS................................................................................................................................................................................................................................................................... 54TRIADS AND PENTADS ................................................................................................................................................................................................................................ 67TRIANGLES........................................................................................................................................................................................................................................................ 75VERTEBRAL LEVELS ..................................................................................................................................................................................................................................... 80

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2CHROMOSOMESCHROMOSOMESCHROMOSOME 1

Alzheimer’s Disease (Presenilin 2, PS 2)

Steroid Resistant Nephrotic Syndrome NPHS2 (Podocin)

Neuroblastoma(1p Deletion)

Rh antigen

CHROMOSOME 2

Unipolar Depression

CHROMOSOME 3

Renal Cell Carcinoma

Clear Cell Carcinoma 3p deletion

CHROMOSOME 4

Huntington Chorea (Huntingtin)

CHROMOSOME 5

Familial Adenomatous Polyposis (APC Gene 5q)

MC Cytogenetic change in Myelodysplastic Syndrome – Deletion of 5q

CHROMOSOME 6

Major Histocompatibility Complex

Myelodysplastic Syndrome in Adults 6q Deletion

CHROMOSOME 7

Pendred Syndrome 7q

Cystic fibrosis (CFTR gene)

Myelodysplastic Syndrome in children (Monosomy 7)

Familial Renal Papillary Carcinoma (Trisomy 7)

CHROMOSOME 9



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3CHROMOSOMESSUPERFICIAL PAPILLARY BLADDER CANCER(9p DELETION)

CHROMOSOME 11

WAGR Syndrome (11p13 Deletion)

Beckwidth Wiedmann Syndrome (11p15 Deletion)

Ataxia Telangiectasia Gene AT

Gene For β-Chain of Hemoglobin

CHROMOSOME 13

Wilson’s Disease (ATP7B)

Retinoblastoma (13q14 deletion)

Osteosarcoma

Patau Syndrome

Friedrich’s Ataxia (Frataxin)

Multiple Myeloma 13q Deletion

BRCA 2

CHROMOSOME 14

Alzemier’s Disease (Presenilin 1,PS 1)

Chromosome affected in Ataxia Telangiectasia (Breaks)

Multiple Myeloma (14q Translocation)

CHROMOSOME 15

Development of Diaphragm 15q

Prader Will Syndrome (15q deletion)

Angelmann syndrome

Marfan’s syndrome

CHROMOSOME 16



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4CHROMOSOMESGene For α-Chain of Hemoglobin

Adult Polycystic Kidney disease APKD gene

CHROMOSOME 17

BRCA 1

P53

NF1

Medulloblastoma 17q Duplication

Invasive Bladder Cancer(17p Deletion)

CHROMOSOME 18

Bipolar Disorder 18q

Edward Syndrome

CHROMOSOME 19

Alzheimer’s Disease (apo E4)

Nephrotic Syndrome (Finnish) NPHS 1(Nephrin)

CHROMOSOME 21

Alzheimer’s Disease (APP-Amyloid Precursor Protein)

Down’s syndrome

Folate Cofactor Biosynthesis

CHROMOSOME 22



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5CHROMOSOMESDIGEORGE SYNDROME (22q11 deletion)

Bipolar Disorder 22q

NF2

Cat’s eye Syndrome

Meningioma 22q12 deletion (MC)

CHROMOSOME X

Androgen Receptors (Long arm)

CHROMOSOME Y

SRY GENE (SHORT ARM)



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6CIRCLESCIRCLESCIRCLE OF PAIN (CORONA MORTIS)

Vascular ring formed by Common Iliac artery, External Iliac artery, Obturator artery, Aberrant Obturator artery,Inferior Epigastric Artery

CIRCLE OF WILLIS

ANTERIOR CEREBRAL ARTERY

ANTERIR COMMUNICATING ARTERY

INTERNAL CAROTID ARTERY

POSTERIOR CEREBRAL ARTERY

POSTERIOR COMMUNICATING ARTERY

CIRCLE OF HEBRA

ANATOMICAL CIRCLE ENCOMPASSING AXIAL,ELBOW FLEXURES,WRISTS,HANDS,GENITAL REGION

SITE OF PREDILECTION FOR SCABIES

CIRCLE OF IRIS

GREATER ARTERIAL CIRCLE OF IRIS – ROOT OF IRIS

LESSER ARTERIAL CIRCLE OF IRIS – PUPILLARY MARGIN OF IRIS



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7

NAMED DISEASESHartnup disease

Defect in Membrane transpot mechanism of aminoacids like tryptophan

Leiner’s disease

Deficiency of Biotin

Burning foot disease

Deficiency of Pantothenic acid

Keshan disease

Endemic Cardiomyopathy

Deficiency of Selenium

Kaschinbeck disease

Endemic Degenerative Osteoarthropathy

Selenium Deficiency

Vagabond Disease

Pediculosis Corporis

Treatment of choice

Disinfection of clothes with 1% GBHC

DOC – 1-5% Permethrin/0.5% Malathion



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8NAMED DISEASESDowling dego’s disease

Asymptomatic post pubertal symmetric progressive reticular pigmentation involving flexural areas with scatteredcomedone like lesion (dark dot follicles)

Coat’s disease

Retinal telangiectasia

Exudative RD

Boys, unilateral

Eales disease

Perivasculitis of retina

Donot cause optic neuritis

Idiopathic inflammation of peripheral retinal vein

Bilateral

Young males

Recurrent vitreous hemorrhage

Sudden appearance of floaters

Still’s disease

Systemic juvenile chronic arthritis

Juvenile rheumatoid arthritis

Blount disease (tibia vara)

Varus

Internal Rotation of Tibia

Genu recurvatum (Backward Bending)



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9NAMED DISEASESCaffey’s Disease

Infantile Cortical Hyperostosis

Periosteal New Bone Formation

Cotical Thickening of Underlying bone

MC site Mandible

Before 5 months of age

Jod Basedow Disease

Iodine Induced Hyperthyroidism

Wolman Disease

Lipid Storage disorder

Failure to Thrive

Vomiting, Diarrhoea, Hepatomegaly, Adrenal Calcification

Shone Complex

Coarctation of aorta

Left Sided Heart Lesions

Canavan Disease

Associated with Macrocephaly

Milroy disease

Familial version of congenital lymphedema

Meige’s disease

Familial version of precox primary lymphedema (1-35 years)



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10NAMED DISEASES

Mondor’s disease

Thrombophlebitis of superficial veins of anterior chest wall and breast

Cord like appearance of subcutaneous veins

Marion’s disease

Muscular hypertrophy of internal sphincter of urinary bladder

Peyronie’s disease

Penile fibromatosis

Fibrous plaques in corpora cavernosa

Pain & curvature of penis

Associated with palmar & plantar fibromatosis

Van buchem disease

Progressive osteosclerosis in skull & mandible

Facial distorsions

Compression of cranial nerves

Lou Gehrig disease

Amyotrophic lateral sclerosis

Atrophic weakness of hands & forearm

Slight spasticity of legs

Hyperreflexia

Normal sensory system


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