Page 1 of 1: Library: Juicy bits about Turners & Inheritance disorders

King75 · Credits: 3084 My Scrapbook

Some useful bits i thought i will share it with the rest of the RXPGians regarding inheritance dsorders in Bone/connective tissue. and Turners syndrome.

Firstly, Turners Syndrome.:

CLOWNS (sorry guys, no hard feelings! just a word to remember the features)

C _ Cardiac

*Coarctation of aorta
*Aortic stenosis
*Aortic dissection (Cystic medial Necrosis)
*Bicuspid aortic valve

L_ Lymphedema - poor lymphatic drainage

O_osteoporosis, streak Ovary, Others - hypogonadism, horseshoe kidney .

W _ Webbed Neck, Wide spaced pages

N _ Normal IQ

S_Short stature

secondly,

Inheritance disorders in Bone/Connective Tissue:

AchAMe(X) COME

Achondroplasia
Amyloidosis
Menkers Syndrome
Crouzons Syndrome
Osteogenesis Imperfecta
Marfan's Syndrome
Ehlers Danlos Syndrome

all the above except Menkers Syndrome marked in the mnemonic with (x) is Autosomal Dominant (AD)
and Menkers is X linked.

Any food for Thoughts

Thank u

P.S. Dear RxPG I have tried posting mnemonics for Turners I never got it thru . Thats why i thought i will share it here in this post.

sd04 · Credits: 4337 My Scrapbook My Reading List 9 Books

Turner Syndrome
45 X
*normal intelligence
*menstrual failure, low estrogen, high gonadotrophins
*Short Stature
Klienfelter Syndrome
[/u]47 XXX
*low intelligence,
*tall stature,
*Normal Fertility
Down's Synd
*Trisomy 21, Autosomal dominant
*Meiotic non-dysjunction during osteogenesis
*ASVD commonest cardiac abnormality
Edward's Syndrome
*Trisomy 18, AD
Patau Syndrome
*Trisomy 13

King75 · Credits: 3084 My Scrapbook

ALL THE FOLLOWING BELONG TO AUTOSOMMAL RECESSIVE

* ATAXIA TELANGIECTASIA
* FRIEDRICH';S ATAXIA
* PENDRED'S DEAFNESS
* HURLERS SYNDROME
* CONGENITAL ADRENAL HYPERPLASIA
* GLYCOGEN STORAGE DISORDERS
* TAY-SACHS DISEASE
* GAUCHER'S DISEASE
* MUCOPLOYSACCHARIDOSIS
* PHENYLKETONURIA
* NIEMMAN-PICK'S DISEASE
* ALPHA & BETA - THALESSAEMIAS
* SICKLE CELL ANEMIAS
* FAMILIAL MEDITTERANEAN FEVER
* FANCONI'S SYNDROME
* CYSTIC FIBROSIS
* ALPHA1-ANTITRYPSIN DEFICIENCY
* CRIGGLER-NAJJAR SYNDROME TYPE 1
* DUBIN JOHNSON'S SYNDROME
* GALACTOSEMIA
* WILSONS DISEASE
* ROTORS SYNDROME

Note : Most of the diseases in AR involves with enzyme deficiencies.

King75 · Credits: 3084 My Scrapbook

all the following are X-linked dominant

* Vitamin D resistant Rickets
* Fabry's disease
* Orofacial digital syndrome

Only Y-linked

Hairy ear
Male to Female sex reversal

King75 · Credits: 3084 My Scrapbook

Dear RxPGians,
Please give your valuable inputs regarding any inheritance disorders.

Thank u

King75 · Credits: 3084 My Scrapbook

AUTOSOMMAL DOMINANT

Hereditary nonpolyposis colon carcinoma
Familial adenomatous polyposis
Familial breast ca
Familial malignant melanoma
Basal cell naevus
Retinoblastoma
MEN I & II
Huntington’s disease
Neurofibromatosis
Familial parkinsons
Tuberous sclerosis
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease
Von Willebrand disease
Spherocytosis
Antithrombin III deficiency
Acute intermittent porphyria
Long QT syndrome
Hypertrophic obstructive cardiomyopathy
Achondroplasia
Amyloidosis
Marfan’s syndrome
Ehler Danlos syndrome
Crouzon syndrome
Osteogenesis imperfeta
Polycystic Kidney disease
Peutz Jegher’s Syndrome
Criggler- Najjar syndrome Type II
Gilberts syndrome
Maturity Onset Diabetes of young
Neurohypophyseasl DI
Nonan syndrome
[/b]

King75 · Credits: 3084 My Scrapbook

X-Linked Recessive

Occular Albinism
Color blindness
Christmas disease
Duchenne’s Muscular dystrophy
Nephrogenic diabetes Insipidus
G6PD deficiency
Hemophilia
Hunter’s syndrome
Lesch Nyhan’s syndrome
Menke Disease

dr_prashant108 · Credits: 2466 My Scrapbook My Reading List 2 Books

disease transmitted through maternal mitochondria

Leber's optic neuritis

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