CH6 Genetic Disorders Flashcards
Characteristic facial clinical findings include:
Bilateral cleft lip and palate
Microphthalmia or anophthalmia
Trisomy 13
Trisomy 13:__% die within the first _ months of life
70%, 7 months
Short stature
Webbing of the neck
Edema of the hands and feet
Low hairline on nape of neck
Broad chest with wide-spaced nipples
Abnormal aorta
Sparse body hair
Infantile external genitals
Primary amenorrhea
Turner Syndrome
Not detected clinically until puberty
Taller than normal
Wide hips
Female pubic hair distribution
Development of female breasts
Intelligence levels may be lower than normal
Testes are smaller and harder
The maxilla is slightly hypoplastic
Klinefelter Syndrome
Catlike cry at birth, mentally delayed
Cri du chat syndrome
Cleft palate and IQ under 30
Wolf-Hirschhorn syndrome
Inherited disorders affecting the gingiva and periodontium
Inherited disorders affecting the jawbones and facies
Inherited disorders affecting the oral mucosa
Inherited disorders affecting the teeth
Molecular Chromosomal Abnormalities
Characterized by a cyclic decrease in the number of circulating neutrophils
Systemic manifestations include : Fever, malaise, sore throat, and occasional cutaneous infections
Kostmann syndrome or chronic neutropenia
Severe ulcerative gingivitis
Gingivostomatitis
Ulcerations on tongue and oral mucosa
Repeated episodes lead to severe periodontal disease
Cyclic Neutropenia
Peripheral blood neutrophils are depressed, and the theory is that chemotaxis is depressed
Hyperkeratosis of the palms of the hands and soles of the feet
At about 1½ or 2 years of age, a gingivoperiodontal inflammatory process develops: Edema, bleeding, alveolar bone resorption, mobility of teeth
Both primary and permanent dentition are lost prematurely
Papillon-Lefèvre Syndrome
Hyperkeratinization of the palms and soles and marked hyperkeratinization of labial and lingual gingiva
Focal Palmoplantar and Gingival Hyperkeratosis
A component of several inherited syndromes
Composed of very firm tissue with a granular corrugated surface
Gingival Fibromatosis
Gingival fibromatosis
Dysplastic or absent nails
Malformed nose and ears
Hepatosplenomegaly
Hypoplasia of terminal phalanges of fingers and toes
Gingival fibromatosis with multiple hyaline fibromas
Progressive bilateral facial swelling that first appears when the patient is 1½ to 4 years of age
Ocular hypertelorism
Microscopically, bone lesions resemble central giant cell granuloma
Radiographs of the jaws reveal a characteristic “soap bubble” or multilocular appearance
Cherubism
Dwarfism
Hands show polydactyly (extra digits) on the ulnar side
Fingernails and toes are hypoplastic and deformed
Fusion of the anterior portion of the maxillary gingiva to the lip from canine to canine
Missing central incisors
Presence of one centrally located abnormal tooth
Teeth have conical shape
Enamel hypoplasia
Presence of natal teeth
Ellis–van Creveld Syndrome (Chondroectodermal Dysplasia)
The fontanelles remain open and the cranium develops a mushroom shape
The neck is long and narrow as a result of unilateral or bilateral hypoplasia of clavicles
The premaxilla is generally underdeveloped, resulting in pseudoprognathism
Patients have many supernumerary teeth, which are crowded in the jaws and do not erupt
Multiple cysts can develop in association with impacted teeth
Cleidocranial Dysplasia
Characterized by osteomas in various bones
Osteomas of the facial skeleton will obliterate the sinuses and cause facial asymmetry
Multiple odontomas can occur in jawbones
Intestinal polyps occur that will become malignant at age 30 or later
Gardner Syndrome (Familial Colorectal Polyposis)
Downward sloping of palpebral fissures
Hypoplastic nose & Hypoplastic malar bones with hypoplasia or absence of the zygomatic process
Abnormal and misplaced ears
Receding chin; Mouth appears fishlike
Patients are deaf because of a lack of otic ossicles (ear bones)
These patients have a hypoplastic mandible with flattened condyles, coronoid processes, and an obtuse mandibular angle
Teeth are malposed
Malocclusion with anterior open bite
Palate is high with a cleft in about 30% of patients
Mandibulofacial Dysostosis (Treacher-Collins Syndrome)
Mutations occur that affect collagen, resulting in abnormally formed bones that fracture easily
Some individuals may only show blue sclera (that portion of the eye that is usually white)
Dentinogenesis imperfecta–like condition
Microdontia
Teeth appear opalescent or translucent but darken with age
Enamel is lost because of abnormal dentin
Osteogenesis Imperfecta
Occur on the buccal aspect of the maxilla
May be single, multiple, unilateral, or bilateral
Maxillary Exostosis
Cleft Lip-Palate and Congenital Lip Pits
(Van der Woude Syndrome)
Multiple capillary dilations of skin and mucous membranes called telangiectasias
Lesions in mucosa of the nasal cavities may cause epistaxis
Risk of gingival hemorrhage
Hereditary Hemorrhagic Telangiectasia (Osler-Rendu Weber Syndrome)
Papules and growths on facial skin, eyelids
Café au lait pigmentation
Aggravated by puberty
Mental disability
Multiple skeletal anomalies
Malignant transformation
Neurofibromatosis of von Recklinghausen
White, corrugated, soft, folding buccal oral mucosa
Thick layer of keratin that desquamates and leaves a raw mucosal surface
Free gingiva is not affected
White Sponge Nevus (Familial White Folded Mucosal Dysplasia)
The tooth enamel does not develop to a normal thickness
Type I: Hypoplastic amelogenesis imperfecta
