Diagnostic Clinical Features Flashcards by Pavan Rajesh

Q

Abnormal Kinky Hair

A

Menkes Disease

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Q

Absent Tonsils

A

Brutons X linked agammaglobulinemia

SCID

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Q

Antimongoloid slants of eyes

A

Noonan Syndrome

Treacher Collin syndrome

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Q

Arachnodactyly and Tall stature

A

Marfan syndrome

Homocystinuria

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Q

Ash leaf macules and Shagreen Patches

A

Tuberous Sclerosis

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Q

Bitot’s spots

A

Vitamin A deficiency

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Q

Blue sclera and Recurrent Fractures

A

Osteogenesis Imperfecta

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Q

Bunch of Grapes appearance

A

Rhabdomyosarcoma

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Q

Calf muscle pseudohypertrophy

A

Ducchenne muscular Dystrophy

Becker Muscular Dystrophy

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Q

Casal’s Necklace

A

Pellagra (Niacin def)

Hartnup disorder

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Q

Cherry Red Epiglottitis

A

Acute Epiglottitis

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Q

Cherry Red Spots

A

GM1 Gangliosidosis
Tay Sachs Disease
N

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Q

Cicatrising Skin lesions
&
Limb defects

A

Congenital Varicella syndrome

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Q

Clinodactyly
Sandle Gap
Simian Crease

A

Down Syndrome

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Q

Coarse Facies

A

Mucopolysaccharidoses

GM1 Gangliosidoses

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Q

Darkening of Urine on Standing.

Study These Flashcards

A

Alkaptonuria

Q

Delayed fall of Umblical cord

Study These Flashcards

A

Leucocyte Adhesion Defects

Q

Doll Like Facies

Study These Flashcards

A

Von Giercke Disease

Q

Erythema Marginatum

Study These Flashcards

A

Rheumatic Fever (Major Crieteria)

Q

Flag sign and Flaky paint Dermatosis

Study These Flashcards

A

Kwashiorkor

Q

Gowers sign

Study These Flashcards

A

Duchenne M

Q

Gowers sign

Study These Flashcards

A

Duchenne Muscular Dystrophy

Beckers Muscular Dystrophy

Q

Tonsillar Pseudomembrane

Bull Neck

Study These Flashcards

A

Diphtheria

Q

Triangular Face

Study These Flashcards

A

Russell Silver syndrome

Trident Hand

Achondroplasia

Washerman's Hands | Potter's Facies

Renal Agenesis (Potter's sequences)

Webbed Neck | Widely spaced Nipples

Turner syndrome

Wrist widening | Rachitic Rosary

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