Syndromes/Genetics

Question 7

Gorlin’s syndrome

Answer 7

Aka Nevoid Basal Cell Syndrome

BCC, odontogenic keratocysts, falx calcifications

Question 11

Genovese syndrome

Answer 11

bystander effect

Question 17

CHARGE association

Answer 17

C-coloboma H-heart defect A-atresia of choana R-retarded growth G-genital abnormalities E-ear deformities

Short, wide, ear with little or no lobe, prominent antihelix, triangular concha, decreased cartilage, asymmetric (>50%)

Choanal atresia in 50-60%

Mutation in 8q11

CN anomalies: hyposmia/anosmia in 90-100%, swallowing difficulties in 70-90%, facial nerve paralysis in 40%

Question 18

MEN 1

Answer 18

pancreas, parathyroid, pituitary

Question 19

MEN 2

Answer 19

medullary carcinoma, parathyroid, pheochromocytoma

Question 20

MEN 3

Answer 20

medullary carcinoma, pheochromocytoma, mucosal neuromas

Question 21

What is a sequence?

Answer 21

a pattern of multiple anomalies derived from a single prior anomaly or mechanical factor.

Question 22

Whast is a syndrome?

Answer 22

a set of symptoms occurring together; the sum of signs of any morbid state; a symptom complex.

Question 23

What is an association?

Answer 23

the occurrence together of two or more phenotypic characteristics more often than would be expected by chance.

Question 24

Pierre Robin sequence

Answer 24

micrognathia, glossoptosis, and cleft palate (50%)

there is posterior and superior positioning of the tongue

U-shaped cleft palate involving soft palate and posterior hard palate

Error in 1st branchial arch structures

Question 25

GILLS

Answer 25

Pierre Robin Sequence management:

May help identify infants who will fail surgical management

GERD

Intubation preoperatively

Late operation (>2 weeks)

Low birth weight

Syndromic diagnosis

Question 26

Stickler Syndrome

Answer 26

Collagenopathy, types II and XI

Typically AD, phenotype varies

PRS with or without CP, ocular abnormalities including retinal detachment, cataracts, high myopia, and glaucoma

Question 27

Van der Woude syndrome

Answer 27

autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both

most common syndrome associated with cleft lip or cleft palate.

Question 28

Velocardiofacial syndrome (VCFS)

Answer 28

DiGeorge - CATCH22 (22q11.2)

Cardiac Abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate (overt or submucosal cleft)
Hypocalcemia/Hypoparathyroidism.

Question 29

Treacher-Collins syndrome

Answer 29

Defect of 1st and 2nd arch development; TCOF1 gene locus implicated in inherited forms

40% have an affected parent

Midface hypoplasia, micrognathia, lower lid coloboma, microtia, CDHL, vision defets, downward sloping palpebral fissures

Question 30

Oculauriculovertebral (OAV) syndrome

Answer 30

also known as Goldenhar’s syndrome, hemifacial microsomia, craniofacial microsomia, and 1st and 2nd branchial arch syndrome

Usually unilateral, right sided

Both AD and AR types described

triad of craniofacial microsomia, ocular dermoid cysts, vertebral anomalies

Question 31

Mutation in Marfans syndrome?

Answer 31

• dominant trait
• carried by the gene FBN1, which encodes the connective protein fibrillin-1

Question 32

Mutation in Cystic Fibrosis?

Answer 32

• autosomal recessive
• CFTR gene
• error of q31.2 locus of chromosome 7

Question 33

What is Pendred Syndrome?

Answer 33

A genetic disorder leading to congenital bilateral SNHL and goiter and occasional hypothyroidism

Autosomal recessive inheritence

Mutations in the PDS gene, which codes pendrin protein (chromosome 7q31)

Same gene mutation also causes enlarged vestibular aqueducy syndrome (EVAS)

Effects iodide/chloride transport in thyroid, cochlea, kidneys

No specific treatment, just hormone replacement and hearing aids

Question 34

What is Jervell and Lange-Nielsen syndrome?

Answer 34

• Type of long QT syndrome, causes the cardiac muscle to take longer than usual to recharge between beats.
• The disorder also contributes to hearing loss.
• Autosomal recessive
• Affects an estimated 1.6 to 6 in 1 million children
• Responsible for less than 10 percent of all cases of long QT syndrome.
• Mutations in the KCNE1 and KCNQ1 genes
• Proteins produced by these two genes work together to form a potassium channel that transports positively charged potassium ions out of cells.
• The movement of potassium ions through these channels is critical for maintaining the normal functions of the inner ear and cardiac muscle.

Treatment

• Beta-blocker like propranolol if the patients is asymptomatic or there is no documented syncope. Beta-blocker + dual mode/dual chamber/dual sensing pacemaker if the patient is symptomatic or there is documented syncope.

Question 35

What is osteogenesis imperfecta?

Answer 35

aka brittle bone disease, or “Lobstein syndrome”

• born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen
• autosomal dominant
• mutations in the COL1A1 and COL1A2 gene
• Type I: the mildest and most common type—usually inherited
• Type II: the most severe type—frequently life-threatening and die young
• Type III: severe type—usually no family history
• Type IV: moderate type—often traced through family lines

Question 36

What is Langer-Giedion Syndrome?

Answer 36

• aka Trichorhinophalangeal syndrome type II (TRPS2) or LGCR (Langer-Giedion Chromosome Region)
• Autosomal dominant
• Mild to Moderate learning difficulties
• Short stature
• Unique facial features
• Small head and skeletal abnormalities including bony growths projecting from the surfaces of bones
• Fine scalp hair, ears that may be large or prominent, broad eyebrows, deep-set eyes, a bulbous nose, long narrow upper lip, and missing teeth.

Question 37

What is Melkersson-Rosenthal Syndrome?

Answer 37

Pathophysiology

unknown etiology

Symptoms

chronic or recurrent edema of the face (defining feature), recurrent unilateral or bilateral facial motor dysfunction, fissured tongue, cheilitis granulomatosa

• facial swelling and facial paralysis begin in childhood and early adolescence

Diagnosis

clinical history and exam, lip biopsy reveals dilated lymphatics and granulomatous changes with giant cells, may have elevated ACE levels during attacks

Treatment

empiric management with corticosteroids, may consider surgical decompression (controversial)

Question 38

What is Eagles Syndrome?

Answer 38

Pathophysiology

elongated styloid process or ossified stylohyoid
ligament causes mechanical irritation of surrounding nerves

Symptoms

odynophagia, unilateral tonsilar pain, pain behind mandibular angle, referred otalgia, palpation at site reproduces pain

Diagnosis

radiography

Treatment

excision from intraoral or external approach

Question 39

Pheochromocytoma: rule of 10%’s

Answer 39

Pheochromocytoma: rule of 10%’s
malignant
bilateral
extra-adrenal
calcified
children
familia

Question 40

What is Madelung’s disease?

Answer 40

Benign symmetric lipomatosis

a cutaneous condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area

strong correlation with alcohol abuse as abstinence from alcohol prevents progression of the disease

Question 41

What are Phakomatosis?

Answer 41

Neurocutaneous syndroms

• disorders of central nervous system that additionally result in lesions on the skin and the eye
• ectodermal origin

Examples:
Neurofibromatosis
Tuberous sclerosis
Ataxia telangiectasia
Sturge-Weber syndrome
von Hippel-Lindau disease
Incontinentia pigmenti
Nevoid basal cell carcinoma syndrome
Wyburn-Mason Syndrome