Syndromes of the Head and Neck Flashcards
In many instances, the ____ manifestation is the earliest symptom of the disease and heralds a
significant condition to follow (i.e. malignancy)
Oral
Short arm of a chromosome is labeled:
“p” for petite
Long arm of a chromosome is labeled:
“q”
What is characterized by:
- defects arising from an excess or deficiency of whole chromosomes
- not familial (very common- 7/1,000 births
- accounts for half of all spontaneous 1st trimester abortions
Chromosome Disorders
Loss of too much autosomal info to permit live birth.
Monosomy
Gain of autosomal info compatible with life, but not without handicapped or shortened life span.
Trisomy
Loss of an X in a female
Turner’s Syndrome (45X)
Loss of an X in a male
Lethal (45Y)
Extra X in female
Superwoman (47XXX)
Extra X in male
Klinefelter’s Syndrome (47XXY)
-traits determined by a multitude of genes, external factors, cluster in families but not “clear-cut”
Multifactorial Genetic Disorders
the frequency or percentage with which an inheritable trait is manifested by individuals carrying the gene for that trait
Penetrance
the extent or degree to which the inheritable traits are manifested by an individual
Expressivity
- Pierre Robin Syndrome
- Parry-Romberg Syndrome
- Crouzon Syndrome
- Apert Syndrome
- Treacher Collins Syndrome
- Cleidocranial Dysplasia
- Gardner Syndrome
- Polyostotic fibrous Dysplasia
- Cherubism
- Nevoid basal cell carcinoma syndrome (Gorlin-Goltz)
Syndromes involving CRANIAL BONES
- Peutz-Jeghers Syndrome
- Marfan Syndrome
- Multiple Endocrine Neoplasia Syndrome IIb
- Neurofibromatosis, Type 1
- Cowden’s Syndrome
- Papillon-Lefevre Syndrome
- Ectodermal Dysplasia
- Ehlers Danlos Syndrome
Syndromes involving the SKIN and SOFT TISSUE
Syndromes associated with orofacial clefts:
- Van der Woude
- Crouzon and Apert
- Treacher Collins
- Cleidocranial Dysplasia
- Ectodermal Dysplasia
- Oro-facial digital
- Pierre Robin
When does a CLEFT LIP develop and how?
- 6th and 7th week of development
- failure of fusion of medial nasal processes of the 1st branchial arches
How does a CLEFT PALATE develop?
-failure of the premaxilla (medial nasal process) and the palatal shelves of the secondary palate
Prevalence of Cleft Lip/Palate:
CL+CP > CP > CL
Racial Prevalence of Cleft Lip +/- Palate
Native North Americans > Asians > Caucasians
MInimal manifestation of a cleft palate
Bifid Uvula
Treatment of Orofacial Clefts
- multudisciplinary
- primary lip closure (first few months of life)
- cleft palate wear appliance and have bone grafts/tissue/orthognathic procedures later
Severe hypoplasia of mandible, glossoptosis (tongue displaced posteriorly), closure of palate blocked–> cleft palate
Pierre Robin Syndrome
- SOX9 gene mutation
- face is bird-like
- large, wide U-shaped cleft palate
- respiratory/feeding problems
- malocclusion w/ missing teeth
- Male = Female
Pierre Robin Syndrome
Treatment/Prognosis for Pierre Robin Syndrome
- CPAP to maintain airway in infants
- feeding tubes until CP is addressed
- mandibular distraction
- Good prognosis if survive infancy
- Uncommon unilateral degeneration and atrophy of one side of the face
- Onset during first two decades
- Disturbance of fat metabolism, trauma, and viral infections have been implicated
Parry Romberg Syndrome
Progressive Hemifacial Atrophy
- Possibly a localized form of scleroderma
- Generally unilateral affecting the facial tissues, including muscles, bones, and skin
- Ocular changes, neurologic disturbances, and seizures reported
- Coup de sabre
Parry Romberg Syndrome
Progressive Hemifacial Atrophy
Oral manifestations include atrophy of half of the lip and tongue, shortening of the body of the mandible and the height of the ramus, retarded tooth eruption, and often malformed tooth roots
Parry Romberg Syndrome
Progressive Hemifacial Atrophy
Treatment for Parry Romberg Syndrome
- Plastic Surgery of soft tissue defects
- Oral surgery and orthodontic therapy after the condition stabilizes
- Unilateral enlargement of one side of the body due to unknown cause (not a hypertrophy)
- Variable involvement, can involve entire side of body, a limb or just a digit
Hemihyperplasia
- Unilateral enlargement of the face
- Unilateral macroglossia with enlarged papillae
- Enlarged crowns of teeth
Hemifacial Hyperplasia
- Asymmetry often noted at birth
- At puberty more accentuated; permanent when growth ceases; bone involved, skin thickened, hypertrichosis
- Females > Males
Hemihyperplasia
-Increased prevalence of abdominal tumors -Prominent telangiectasia's -Often associated with nevus flammeus -Asymmetric jaws with enlargement of the mandibular canal
Hemihyperplasia
Treatment of Hemihyperplasia
- Rule out systemic disease (neurofibromatosis)
- Cosmetic surgery and orthodontic treatment after cessation of growth
- hereditary; autosomal dominant
- manifestations are due to synostosis
- early closure of sutures, especially the coronal suture
- “beaten copper” skull film
Craniofacial Dysostosis
Crouzon Syndrome
“Frog-like” Face:
- midface hypoplasia
- short upper lip
- exophthalmos is a constant feature
- hypertelorism
Craniofacial Dysostosis
Crouzon Syndrome
- protuberant frontal region
- hypoplastic maxilla
- high arched palate-dental malocclusion
- parrot-beak nose
Craniofacial Dysostosis
Crouzon Syndrome
