Syndromes

Question 1

Plummer vinson Syndrome

Answer 1

Pallor
Atrophic Glossitis
Spoon shaped nails

Question 2

Trotters syndrome

Answer 2

Unilateral deafness
Trigeminal neuralgia
Soft palate defect

Question 3

Vincent Stomatitis

Answer 3

Infection of the mouth and gums with ulceration and swelling from mouth to throat

Question 4

Kindler syndrome

Answer 4

Poikiloderma
Acral atrophy
Photosensitivity
( subtype of epidermyolysis bullosa)

Question 5

Fanconi syndrome

Answer 5

Disorder of kidney tubules in which certain substances are malabsorbed

Question 6

Reye syndrome

Answer 6

Swelling of liver and brain with massive accumulation of fat in several organs

Question 7

Refsum disease

Answer 7

Numbness of hands and feet
Itchy scaly skin
Joint pain
Phytanuc acid decreased

Question 8

Cleidocranial dysplasia

Answer 8

Brachycephalic head
Defects of clavicle
Skull abnormalities

Question 9

Ehlers Danlos Syndrome

Answer 9

Hyperelastic skin
Hyperextensibility of joints
Fragility of skin and blood vessels leading to bruising

Question 10

Gorlin Gotz Syndrome

Answer 10

Multiple OKCs of jaw
Bifid rib
Calcified falx cerebri

Question 11

Peutz jeughers syndrome

Answer 11

Intestinal polyps
Mucocutaneous melanocytic macules

Question 12

Addison’s disease

Answer 12

ACTH levels increased in blood
Induced deposit of melanin in skin and mucosa

Question 13

Mccune Albright Syndrome

Answer 13

Fibrous dysplasia
Cafe au lait spots
Endocrinopathy

Question 14

Cushing syndrome

Answer 14

Rapidly acquired adiposity
Muscular weakness
Vascular hypertension

Question 15

Hunt’s syndrome

Answer 15

Reactivation of varicella zoster virus
Facial paralysis
Hearing deficits
Vesicular eruption in oral cavity

Question 16

Crouzon syndrome

Answer 16

Midface hypoplasia
Hearing defects
Cloverleaf skull
Maxillary hypoplasia

Question 17

Apert syndrome

Answer 17

Fusion of skull, hands and feet bones

Question 18

Most common feature of Hurler’s Syndrome

Answer 18

Corneal Clouding

Question 19

Papillon Lefevre Syndrome

Answer 19

Agressive periodontitis
Keratoderma on soles and palms

Question 20

Which syndrome features port-wine stains?

Answer 20

Sturge-Weber

Question 21

Which syndrome shows risk of perioral freckles with risk of breast cancer and intestinal cancer?

Answer 21

Peutz Jeughers

Question 22

Which syndrome are lip pits associated with?

Answer 22

Van der Woude

Question 23

In which syndrome is there hyperextensibility of tmj?

Answer 23

Ehler Danlos Syndrome

Question 24

In which syndrome is hypolasia of parotid gland seen?

Answer 24

Hemifacial microsomia/Goldenhar

Question 25

James Ramsay Hunt syndrom

Answer 25

Reactivation of VZV
Vertigo, sore throat, facial paralysis

Question 26

Which condition shows hair-on-end appearance in skull ct?

Answer 26

Thalassemia