Diagnostic Clinical Features Flashcards by Pavan Rajesh | Brainscape

Q

Abnormal Kinky Hair

A

Menkes Disease

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Absent Tonsils

A

Brutons X linked agammaglobulinemia

SCID

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Antimongoloid slants of eyes

A

Noonan Syndrome

Treacher Collin syndrome

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Arachnodactyly and Tall stature

A

Marfan syndrome

Homocystinuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Ash leaf macules and Shagreen Patches

A

Tuberous Sclerosis

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Bitot’s spots

A

Vitamin A deficiency

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Blue sclera and Recurrent Fractures

A

Osteogenesis Imperfecta

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Bunch of Grapes appearance

A

Rhabdomyosarcoma

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Calf muscle pseudohypertrophy

A

Ducchenne muscular Dystrophy

Becker Muscular Dystrophy

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Casal’s Necklace

A

Pellagra (Niacin def)

Hartnup disorder

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Cherry Red Epiglottitis

A

Acute Epiglottitis

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Cherry Red Spots

A

GM1 Gangliosidosis
Tay Sachs Disease
N

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Cicatrising Skin lesions
&
Limb defects

A

Congenital Varicella syndrome

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Clinodactyly
Sandle Gap
Simian Crease

A

Down Syndrome

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Coarse Facies

A

Mucopolysaccharidoses

GM1 Gangliosidoses

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Darkening of Urine on Standing.

A

Alkaptonuria

Q

Delayed fall of Umblical cord

A

Leucocyte Adhesion Defects

Q

Doll Like Facies

A

Von Giercke Disease

Q

Erythema Marginatum

A

Rheumatic Fever (Major Crieteria)

Q

Flag sign and Flaky paint Dermatosis

A

Kwashiorkor

Q

Gowers sign

A

Duchenne M

Q

Gowers sign

A

Duchenne Muscular Dystrophy

Beckers Muscular Dystrophy

Q

Tonsillar Pseudomembrane

Bull Neck

A

Diphtheria

Q

Triangular Face

A

Russell Silver syndrome

Q

Trident Hand

A

Achondroplasia

Q

Washerman’s Hands

Potter’s Facies

A

Renal Agenesis (Potter’s sequences)

Q

Webbed Neck

Widely spaced Nipples

A

Turner syndrome

Q

Wrist widening

Rachitic Rosary

A

Rickets