Syndromes

Question 1

MEN 2B (5)

Answer 1

C cell HP Medullary Carc Pheo Ganglioneuroma Mucosal neuroma

Question 2

MEN 1 (4)

Answer 2

PTH HP Pituitary adenoma PanET Adrenocortical tumor

Question 3

MEN 2A (3)

Answer 3

PTH HP Medullary Carc Pheo

Question 4

Gorlin (4)

Answer 4

BCCs EICs Ovarian fibroma Odontogenic keratocyst

Question 5

Cowden (3)

Answer 5

PTEN mutation Hemangioma Nodular goiter Lichenoid, papular, and papillomatous skin/mucosa lzs

Question 6

Muir-Torre Syndrome

Answer 6

Sebaceoma MSI (MSL1, MSH2, MSH6)

MSH2 is most common cause (IHC will be MSH2 MSH6 negative)

Question 7

Williams-Campbell Syndrome

Answer 7

Deficiency of distal bronchial cartilage

Question 8

Larsen Syndrome

Answer 8

1. Filamin B - cytoplasmic scaffold protein that regulates cytoskeletal structure, expressed in human growth plate chondrocytes
2. Collagen Type VII - LAR1 gene on chromosome 3p21.1-14.1, autosomal dominant; more common cause of Larsen syndrome

Question 9

Pfeiffer syndrome

Answer 9

Premature fusion of skull bones (craniosynostosis)

Fibroblast growth factor receptor (FGFR) 1 and 2

Subtypes

• Type 1 - classic form; normal life
• Type 2 - severe; limited brain growth
  
  • Cloverleaf-shaped head
• Type 3 - severe; limited brain growth

Clinical Presentation

• Proptosis
• Wide-set eyes (hypertelorism)
• Underdeveloped jaw
• Beaked nose
• Broad thumbs and toes
  
  • Brachydactyly
  • Syndactyly

Question 10

Pierre-Robin

Question 11

Marshall-Smith

Question 12

cri du cat

Question 13

Freemon-Sheldon

Question 14

Mohr syndrome

Question 15

VACTERL

Question 16

Frasier syndrome

Question 17

G syndrome

Question 18

Crouzon syndrome

Question 19

Alagille syndrome