Head and neck syndromes Flashcards
What is a cleft lip?
Defective fusion of medial nasal process and maxillary process
What is a cleft palate?
Defective fusion of the palatal shelves
What are the causes of orofacial clefts?
Over 400 syndromes, maternal cigarette smoking, anticonvulsant therapy, maternal alcohol consumption, folic acid deficiency
What is Pierre Robin Sequence?
Cleft palate, mandibular micrognathia, glossoptosis
What syndromes are associated with Pierre Robin Sequence?
Stickler Syndrome, Velocardiofacial syndrome
What is carcinoma is associated with Gardner Syndrome?
Potential for adenocarcinoma of the colon
What are the clinical features of Gardner Syndrome?
Osteomas, epidermoid cysts, multiple odontomas and impacted supernumerary teeth
What is the treatment for Gardner Syndrome?
Prophylactic Colectomy
What is the prognosis for Gardner Syndrome without treatment?
50% with colorectal carcinoma by 30, 100% colorectal carcinoma by the 5th decade of life
What is Hemihyperplasia?
Unilateral enlargement of unknown cause
What are the associations with Hemihyperplasia?
Isolated or associated with syndrome
What are the clinical features of Hemihyperplasia?
Unilateral macroglossia with enlarged tooth crowns
What are tumor location associated with Hemihyperplasia?
Increased prevalence of abdominal tumors (Wilms tumor, adrenal cortical carcinoma, hepatoblastoma)
What is the treatment for Hemihyperplasia?
Rule out disease/conditions/syndromes, periodic ultrasound to monitor abdominal tumor development, cosmetic surgery and orthodontics after growth cessation
What is Progressive Hemifacial Atrophy?
Unilateral degeneration and atrophy
When does Progressive Hemifacial Atrophy typically onset?
During first two decades
What is the progression of Hemifacial Atrophy?
Begins as atrophy of skin and subcutaneous structures, osseous hypoplasia in the first decade
What is the treatment for Progressive Hemifacial Atrophy?
Atrophy slows over 2-20 years and stabilizes, managed with methotrexate and corticosteroids, surgery and ortho after condition stabilizes
What is Crouzon Syndrome (Craniofacial Dysostosis) and mutation?
Autosomal dominant, premature closure of cranial sutures, mutation in FGFR2
What are the clinical features of Crouzon Syndrome?
Cranial malformation, midfacial hypoplasia with ocular proptosis, beaten metal skull radiograph, normal or near normal intelligence
What is the treatment for Crouzon Syndrome?
Craniectomy for pressure relief, plastic surgery, orthognathic surgery
What is Apert Syndrome and mutation?
Autosomal dominant, premature closure of cranial sutures, mutation of FGFR2
What are the clinical features of Apert Syndrome?
Cranial malformation, midfacial hypoplasia with ocular proptosis, syndactyly, intellectual disability, soft palate cleft or bifid uvula
What is the treatment for Apert Syndrome?
Early surgical intervention to allow brain growth, increase intellect, and social development
What is Treacher Collins Syndrome (Mandibulofacial Dysostosis) and mutation and branchial arch association?
Autosomal dominant, mutation of TCOF1 gene, defect of 1st and 2nd branchial arch
What are the clinical features of Treacher Collins Syndrome?
Hypoplasia of zygomatic process, downward slanting palprebral fissures, coloboma, malformed ears, underdeveloped mandible, normal intelligence
What is the treatment for Treacher Collins Syndrome?
Facial reconstruction
What is Amelogenesis Imperfecta?
Alteration in enamel structure
What is Witkop’s classification of Amelogenesis Imperfecta?
Hypoplastic, Hypomaturation, Hypocalcification
What is Hypoplastic Amelogenesis Imperfecta features?
Inadequate deposition of enamel matrix
What is Hypomaturation Amelogenesis Imperfecta features?
Defective maturation of enamel crystal structure, discolored soft enamel that chips, radiodensity similar to dentin, Snow capped
What is Hypocalcification Amelogenesis Imperfecta features?
No significant mineralization of enamel matrix, enamel is soft and easily lost
What is the treatment for Amelogenesis Imperfecta?
Primarily esthetic unless loss of OVD
What disease is similar to Dentinogenesis Imperfecta?
Similar to osteogenesis imperfecta
What are the clinical features of Dentinogenesis Imperfecta?
Opalescent teeth in permanent and deciduous dentition, blue brown discoloration, enamel separates easily, bulbous crowns, cervical constriction, short/thin roots, obliterated pulp, shell teeth/enlarged pulps are rare, frequent PA lesions
What is the treatment for Dentinogenesis Imperfecta?
Dentures or implants
What dentin is affected Dentin Dysplasia Type 1?
Radicular dentin
What are the characteristics of Dentin Dysplasia Type 1?
Crescent shaped pulp chambers, short roots, no canal, stream flowing around boulders
What dentin is affected in Dentin Dysplasia Type 2 and feature?
Coronal dentin, similar to dentinogenesis imperfecta, normal clinical appearance, thistle tube
What bacteria and gene mutation causes is Papillon-Lefevre Syndrome?
Primary pathogen is A. Actinomycetemcomitans, mutation of cathepsin C gene, affects skin, myeloid and lymphoid cells
What are the clinical features of Papillon-Lefevre Syndrome?
Palmer/plantar keratosis, rapid, progressive periodontitis, floating teeth
How is Papillon-Lefevre Syndrome diagnosed?
Biopsy to rule out other pathology
What is the treatment for Papillon-Lefevre Syndrome?
Antibiotics, plaque control, CHX rinse
What is Sturge-Weber Angiomatosis (Encephalotrigeminal Angiomatosis)?
Vascular proliferation of skin and brain
What are the clinical features of Sturge-Weber Angiomatosis?
Nevus flammeus, intellectual disability, hemiplegia, convulsions, leptomeningeal angiomas, gyriform ‘tram line’ calcifications
