ch 6 quick diseases

Down syndrome

Associated with late maternal age
slanted eyes
Gingival & Periodontal disease has been reported in 90% of affected individuals

Trisomy 13

dont live passed 7 months
pretty much everything messed up. extra didgets, genitals messed up

Turner Syndrome

missing or partially missing X chromosome
female phenotype
Short stature, webbing of the neck, sparse body hair

Klinefelter Syndrome

look like woman, not tll puberty
extra copy of the X chromosome
testes smaller & harder

Cri du Chat Syndrome

cat like cry at birth, mental deficit
deletion on the short arm of chromosome 4

Cyclic Neutropenia

cyclic decrease
Kostmann Syndrome
severe ulcerative gingivitis, gingivostomatitis, ulcers on tongue & oral mucosa

Papillon-Lefevre Syndrome

Hyperkeratosis of the palms of the hands & soles
Permanent detention erupts around 8-9 yo
teeth are lost again before age 14

Focal Palmoplantar & Gingival Hyperkeratosis

Hyper keratinization of the palms of hands & soles of feet labial and gingiva

Gingival Fibromatosis

teeth covered withgums
can be isolated or part of a syndrome
very firm tissue

Cherubism

soap bubble
bilateral facial swelling
hypertelorism (greater distance between orbits

Ellis-Van Creveld Syndrome

dwarfism
sidefingernails & toes are hypoplastic & deformed
maxillary gingiva fused to the lip
conical/natal teeth

Cleidocranial Dysplasia

1/2 of the cases are isolated examples caused by mutation
frontenelles
supernumerary teeth

Gardner Syndrome

Characterized by osteomas
obliterate the sinuses

become malignant

Mandibulofacial Dysostosis

appears fish-like & individuals are often deaf due
Palate is high w/ a cleft in ~ 30% of patients

Nevoid Basal Cell Carcinoma Syndrome

Nevi are observed on the skin
bifurcation of the ribs

Osteogenesis Imperfecta

Mutations occur that affect collagen
blue scleras?

all Autosomal Dominant

Torus Mandibularis

Torus Palatinus

Maxillary Exotosis

Hereditary Hemorrhagic Telangiectasia

Telangiectasias which increase the risk of gingival hemorrhage
nose bleeds

Multiple Mucosal Neuroma Syndrome

• Tall patients

  • lid that doesn’t touch eyeball

Neurofibromatosis of Von Recklinhausen

Papules on facial skin, eyelids or anywhere in mouth; Cade au Lait pigmentation

Peutz - Jeghers Syndrome

multiple melanotic macular pigmentations
RARELY malignant

White Sponge Nevus

white, corrugated, soft tissue

Amelogenesis Imperfecta Type 1

Hypoplastic

does not develop normal thickness

pitting occurs

Amelogenesis Imperfecta Type 2

• poorly calcified

• very soft

• moth eaten appearance

Amelogenesis Imperfecta Type 3

Hypomaturation

softer

normal thickness

Amelogenesis Imperfecta Type 4

Hypoplastic / Hypomaturation

taurodontic

Dentin Dysplasia - Autosomal Dominant

Type I - Radicular; teeth have normal crowns & abnormal roots with teeth that are generally exfoliated prematurely

Type II - Coronal

Hypohidrotic Ectodermal Dysplasia

decreased hair, decreased sweating

Hypophosphatasia

• Need bloodwork to diagnosis

• formation of bone & cementum

  • exfoliated prematurely

Taurodontism

genetically heterogeneous condition