Pathology

Question 1

Van der Woude syndrome:

Answer 1

Lip pits + cleft

Question 2

Melkersson-Rosenthal Syndrome

Answer 2

fissured tongue + granulomatous cheilitis + facial

paralysis

Question 3

Sturge-Weber Syndrome

Answer 3

angiomas of leptomeninges (arachnoid and pia mater) + skin

along the distribution of the trigeminal nerve

Question 4

Peutz-Jeghers Syndrome=

Answer 4

freckles + intestinal polyps

Question 5

Ramsay Hunt Syndrome=

Answer 5

herpes zoster reactivation in geniculate ganglion affecting cranial nerves VII and VIII resulting in facial paralysis, vertigo, deafness

Question 6

Congenital Syphilis=

Answer 6

Hutchinson’s triad (notched incisors

and mulberry molars, deafness, ocular keratitis)

Question 7

Behcet’s Syndrome=

Answer 7

multisystem vasculitis that causes aphthous-type ulcers of oral and genital, and inflammation of eye

Question 8

Plummer-Vinson Syndrome=

Answer 8

mucosal atrophy + dysphagia+ iron deficiency anemia + increased risk of oral cancer

Question 9

Multiple Endocrine Neoplasia (MEN 2B)=

Answer 9

multiple neuromas + medullary thyroid cancer

+ pheochromocytoma of the adrenal gland

Question 10

Neurofibromatosis type I/Von

Recklinghausen’s disease =

Answer 10

multiple
neurofibromas + multiple skin freckles (café au
lait spots) + axillary freckles (Crowe’s sign) +
iris freckles (Lisch spots); neurofibromas can
transform to neurofibrosarcomas here

Question 11

Lofgren’s Syndrome=

Answer 11

erythema nodosum + bilateral hilar

lymphadenopathy + arthritis

Question 12

Heerfordt Syndrome=

Answer 12

anterior uveitis + parotid gland enlargement

+ facial nerve palsy + fever; also called uveoparotid fever

Question 13

Gorlin Syndrome=

Answer 13

multiple KCOTs, multiple BCCs,calcified falx cerebri, fatal, also called nevoid basal cell carcinoma

Question 14

Gardner Syndrome=

Answer 14

multiple odontomas + intestinal

polyps

Question 15

McCune-Albright Syndrome=

Answer 15

polyostotic (more than one bone) fibrous dysplasia + cutaneous
café au lait spots + endocrine abnormalities like
precocious puberty

Question 16

Von Recklinghausen’s disease of bone=

Answer 16

the result of
this condition (not to be confused with von
Recklinghausen’s disease aka neurofibromatosis)

Question 17

Hemifacial microsomia

Answer 17

is the second most common congenital craniofacial condition after cleft lip/palate, occurring in about 1 in every 3500 newborns. Poor vasculature of the first and second pharyngeal arches during the first trimester cause facial deformities consisting most commonly of an underdeveloped ear, mouth, and mandible.

Question 18

Crouzon syndrome

Answer 18

is an autosomal dominant disorder characterized by premature fusion of the coronal and lambdoid sutures. This results in a short and broad skull, bulging eyes, frontal bossing, and midface hypoplasia including a short upper lip. Patients can experience vision and hearing difficulties, but do not have intellectual disabilities

Question 19

Marfan syndrome

Answer 19

is an autosomal dominant connective tissue disorder that results in production of defective fibrillin-1 protein. Elastin is heavily altered because of this, with cardiovascular, musculoskeletal, and ocular effects. Patients can present with aortic aneurysms, long extremities, joint hypermobility (including the TMJ), and subluxation of the lens of the eye.

Question 20

Treacher Collins syndrome

Answer 20

is a genetic condition characterized by malar hypoplasia, downward slanting palpebral fissures, and hypoplastic condylar and coronoid processes.

Question 21

Pierre Robin sequence (PRS) is

Answer 21

a congenital disorder presenting with a classic triad of micrognathia, glossoptosis, and airway obstruction.

Question 22

Apert Syndrome is

Answer 22

an autosomal dominant condition caused by mutations in the FGFR2 gene on chromosome 10. Clinical manifestations include bicoronal synostosis, maxillary hypoplasia, hypertelorism, proptosis, polydactyly, and syndactyly. Affected children may also have intellectual disability.