Chapter 6

Genetics

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 Outline
Chromosomes
Normal Cell Division
Lyon Hypothesis
Molecular Composition of Chromosomes
Genes and Chromosomes

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 Genetics
(pg. 198)
The inheritance and expression of
inherited traits
Some alterations may be found as part of a
syndrome, or may occur independently.
Cleft lip and palate would be an example.
Syndrome
A distinctive association of signs and symptoms
occurring together
Some syndromes are inherited and others are not.

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 Genetics (cont.)
(pg. 199)
Genotype
The genetic composition
Phenotype
The observable appearance
Refers to the physical, biochemical, and
physiologic traits of an individual

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 Chromosomes
(pg. 199)
Genes
The hereditary units transmitted from one
generation to another
Genes are found on chromosomes, which are
located in the nucleus of a cell.
Chromosomes contain DNA, which directs the
production of amino acids, polypeptides, and
proteins by the cell.
DNA has the ability to duplicate itself.

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Chromosomes (cont.)

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 Normal Cell Division
Mitosis
Stages of mitosis
Meiosis

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 Mitosis
(pg. 199)
Somatic cells
All cells of the body, with exception of ova and
spermatozoa
Mitosis
The process of cellular division in a somatic
cell during a part of the cells life span called
the mitotic cycle.

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 Mitotic Cycle
(pgs. 199-200)
After each cell division is complete, the cell
enters the gap 1 (G1) phase.
This is followed by the S phase, where
replication of DNA takes place.
The gap 2 (G2) phase follows the S phase
and ends when mitotic division takes place.

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 Stages of Mitosis
(pgs. 199-200)
Four stages
Prophase
The chromosomes are lining up toward metaphase.
Metaphase
Chromosomes at the equatorial plane of the cell
Long and short arms are joined at the centromere.
Each identical half is called a chromatid.
Anaphase
The chromatids are in the process of splitting.
Telophase
Cytokinesis occurs.

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Stages of Mitosis (cont.)

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 Meiosis
(pgs. 200-201)
Meiosis (reduction division)
A two-step process of cell division
The primitive germ cells reduce their
chromosome number by half and become
mature germ cells.
Primitive germ cells have two chromosomes for each
pair and are called diploid.
Mature germ cells have half the number of germ
cells and are called haploid.
This process maintains the normal number of
human chromosomes at 46.

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 First Meiosis
(pgs. 200-201)
The members of each pair of
chromosomes line up and exchange
segments at contacts known as
chiasmata.
The chromosomes separate, but no splitting of
the centromere occurs.
Each member of the pair migrates to one of the
new cells, each of which contains 23
chromosomes but twice the final amount of
DNA.

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First Meiosis (cont.)

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 First Meiosis (cont.)
(pg. 201)
Nondisjunction
Occasionally, both chromosomes that were
crossing over do not separate, and both
migrate to the same cell.
Down syndrome (trisomy 21)
An example of this type of abnormality in which three
of chromosome 21 are found.
In a female, oogenesis (ovum development) occurs
around the third month of prenatal life.
The older the woman, the greater is the chance of a
trisomic ovum.

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 Second Meiosis
(pg. 201)
Essentially a mitotic division
Each chromosome splits longitudinally.
No replication of DNA occurs before the
second meiosis.

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Second Meiosis (cont.)

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 Lyon Hypothesis
(pgs. 201-202)
During the early period of embryonic
development, the genetic activity of one of
the X chromosomes in each cell of a
female embryo is inactivated.
The inactivated chromosome forms a
contracted structure known as a Barr body.
It appears as a dark dot at the periphery of the
nucleus.

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Lyon Hypothesis (cont.)

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 Molecular Composition of
Chromosomes
Deoxyribonucleic acid (DNA)
Ribonucleic acid (RNA)
Types of ribonucleic acid

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 Deoxyribonucleic Acid (DNA)
(pgs. 202-203)
Chromosomes contain DNA.
DNA contains the basic code or template that
carries all genetic information.
Nucleotide
The basic unit of DNA
Four bases are found in DNA.
Adenine, guanine, thymine, cytosine
A/T and G/C

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Deoxyribonucleic Acid (DNA)
(cont.)

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 Deoxyribonucleic Acid (DNA)
(cont.)
The bases form chains that are coiled to
form the double helix.
A sequence of three bases is called a
codon.
It codes for an amino acid.
Several amino acids form a polypeptide,
and one or more polypeptides form a
protein.
Mitochondrial DNA is maternally inherited.
It is passed from mother to offspring regardless
of sex.
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 Ribonucleic Acid (RNA)
(pg. 203)
The genetic code contained in DNA is
transcribed into RNA.
It is a single strand .
Its sugar is a ribose rather than the
deoxyribose of DNA.
The base uracil replaces thymine in DNA.

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 Types of Ribonucleic Acid
(pg. 203)
There are four types of RNA.
Messenger (mRNA)
Carries the message for the DNA to ribosomes in the
cytoplasm
Transfer (tRNA)
Transfers amino acids from the cytoplasm to the
mRNA
Ribosomal (rRNA)
Combines with several polypeptides to form
ribosomes
Heterogeneous (hnRNA)
The precursor to mRNA, found within the nucleus
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 Types of Ribonucleic Acid
(pg. 203)
To produce a protein
mRNA carries genetic code for the formation of
that protein to the ribosomes.
tRNA brings amino acids to the ribosomes from
the cellular cytoplasm.
The amino acid sequence forms proteins
according to the genetic code.
Proteins exit the ribosomes as they are
formed.

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Types of Ribonucleic Acid (cont.)

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 Genes and Chromosomes
Chromosomal Abnormalities
Gross Chromosomal Abnormalities
Patterns of Inheritance

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Genes and Chromosomes (cont.)
(pg. 203)
Alleles
The genes that are located at the same level
(locus) in homologous chromosomes and that
dictate the same functions or characteristics
When allelic genes are identical, the person is
homozygous for that gene.
When genes are different, the person is
heterozygous for that gene.

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Genes and Chromosomes (cont.)
(pg. 203)
If a gene can express its effect clinically
with a single dose as in combination, it is
dominant.
If a gene requires a double dose to be
expressed, the resulting characteristic or
function is recessive.

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 Chromosomal Abnormalities
(pgs. 204-205)
Can be divided into
Molecular abnormalities
Occur at the DNA level
Not detectable microscopically
Most inherited disorders are at the level of one or
both allelic genes.
Gross abnormalities
Can be observed in a karotype
A photographic representation of a persons
chromosomal constitution

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Chromosomal Abnormalities
(cont.)

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Gross Chromosomal Abnormalities
Alterations in Number and Structure of
Chromosomes
Clinical Syndromes Resulting from Gross
Chromosomal Abnormalities

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 Alterations in Number and
Structure of Chromosomes
(pg. 204)
Caused by either alterations in
chromosome number or alterations in
structure
Alterations in number
Euploid
A complete second set of chromosomes
Polyploid
Three or four complete sets of chromosomes
Aneuploid
Any extra number of chromosomes that do not
represent an exact multiple of the total

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 Alterations in Number and
Structure of Chromosomes (cont.)
(pg. 204)
Alterations in structure
Deletion
Loss of part of a chromosome
Translocation
A portion of a chromosome attached to another
chromosome
Inversion
A portion of a chromosome is upside-down
Duplication
A chromosome is larger than normal; the extra
segment is identical to a segment of a normal
chromosome

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Clinical Syndromes Resulting from
Gross Chromosomal Abnormalities
Trisomy 21
Trisomy 13
Turner Syndrome
Klinefelter Syndrome
Cri du Chat Syndrome and Wolf-
Hirschhorn Syndrome

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 Trisomy 21
(pg. 204)
Down syndrome
The most frequent trisomy
The facies are characterized by slanted eyes.
More than 30% have heart abnormalities.
Fissured tongue is frequently seen.
Gingival and periodontal disease has been
reported in 90% of affected individuals.
Hypodontia, abnormally shaped teeth,
anomalies in eruption with malposition and
crowding of teeth are common.

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 Trisomy 13
(pgs. 204, 206)
Characterized by multiple abnormalities in
various organs
70% die within the first 7 months of life.
Characteristic facial clinical findings include
bilateral cleft lip and palate, and
microphthalmia or anophthalmia.

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 Trisomy 13 (cont.)

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 Turner Syndrome
(pgs. 204, 206)
Female karyotype
Usually only one X chromosome
Clinically of short stature with a webbing of the
neck and edema of the hands and feet
Smears have a lack of Barr bodies.

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Turner Syndrome (cont.)

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 Klinefelter Syndrome
(pg. 206)
Most are from nondisjunction of the X
chromosome.
Male phenotype
The maxilla is slightly hypoplastic
(underdeveloped).
May be XXXY or XXXXY
The greater the number of X chromosomes, the
more pronounced are the clinical manifestations.

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Cri du Chat (Cat Cry) Syndrome and
Wolf-Hirschhorn Syndrome
(pg. 206)
Abnormalities caused by deletions
Cri du chat syndrome
A deletion on the short arm of chromosome 5
Cat-like cry at birth, mentally retarded
Wolf-Hirschhorn syndrome
A deletion on the short arm of chromosome 4
Cleft palate and IQ < 30

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 Patterns of Inheritance
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-Linked Inheritance
Lyon hypothesis and X-linked recessive traits
Genetic Heterogeneity
Examples of Molecular Chromosomal
Abnormalities

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 Autosomal Dominant Inheritance
(pg. 207)
Transmitted vertically from one generation
to the next
Males and females are equally affected.
Lack of penetrance may occur if an individual
carries a gene without presenting any clinical
manifestation.
Penetrance refers to the number of individuals
affected.
Expressivity pertains to the degree to which an
individual is affected.

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Autosomal Recessive Inheritance
(pg. 207)
Individuals exhibiting an autosomal
recessive trait must be homozygous for
the gene.
Risk is a mathematical estimate of the
probability of an event occurring.
The chance of having deleterious genes in
common increases among close relatives.
Consanguinity
A familial relationship

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 X-Linked Inheritance
(pg. 207)
Women have two X chromosomes.
They may be either heterozygous or homozygous for a
gene that is located on the X chromosome.
Men have only one X and one Y chromosome.
If a deleterious gene occurs on the X chromosome in a
male, the condition or trait will be seen clinically
regardless of the dominant or recessive behavior of the
same gene in women.

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 Lyon Hypothesis and X-linked
Recessive Traits
(pgs. 207-208)
One of the X chromosomes in the female
is genetically cancelled at an early stage of
embryonic development.
This cancellation affects X chromosomes from
both maternal and paternal lines.

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 Genetic Heterogeneity
(pg. 208)
Used when a condition has more than one
inheritance pattern as well as differences
in the degree of clinical manifestations for
each of the inherited varieties
Recessive the person must be homozygous
for the trait to be seen
Oligogenic inheritance characteristics or
traits that are inherited by the participation of
several genes

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 Examples of Molecular
Chromosomal Abnormalities
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

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 Inherited Disorders Affecting the
Gingiva and Periodontium
Cyclic Neutropenia
Papillon-Lefvre Syndrome
Focal Palmoplantar and Gingival
Hyperkeratosis
Gingival Fibromatosis
Laband Syndrome
Gingival Fibromatosis with Hypertrichosis
Epilepsy, and Mental Retardation
Syndrome
Gingival Fibromatosis with Multiple Hyaline
Fibromas
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 Inherited Disorders Affecting the
Gingiva and Periodontium (cont.)
(pg. 208)
Most of these disorders are rare.
They exhibit severe gingival and/or periodontal
alterations.

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 Cyclic Neutropenia
(pgs. 208-209)
An autosomal dominant condition
Characterized by a cyclic decrease in the
number of circulating neutrophils
Systemic manifestations include fever,
malaise, sore throat, and occasional
cutaneous infections.
Oral manifestations include a severe ulcerative
gingivitis.
Repeated episodes lead to severe periodontal
disease.

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Cyclic Neutropenia (cont.)

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 Papillon-Lefvre Syndrome
(pgs. 209-210)
An autosomal recessive
Composed of destruction of periodontal tissues
and hyperkeratosis of the palms of the hands
and soles of the feet
At about 1.5 or 2 years of age, a
gingivoperiodontal inflammatory process
develops.
Teeth are lost and the process is repeated in the
adult dentition.
Peripheral blood neutrophils are depressed,
and the theory is that chemotaxis is depressed.
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Papillon-Lefvre Syndrome (cont.)

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 Focal Palmoplantar and Gingival
Hyperkeratosis
(pgs. 210-211)
An autosomal dominant inheritance
pattern
Characterized by hyperkeratinization of the
palms and soles and marked
hyperkeratinization of labial and lingual gingiva

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Focal Palmoplantar and Gingival
Hyperkeratosis (cont.)

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 Gingival Fibromatosis
(pgs. 210-211)
A component of several inherited
syndromes
Gingival hypertrophy generally develops early
in life; within a few years the teeth are covered
The fibromatosis is composed of very firm
tissue with a granular corrugated surface.

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Gingival Fibromatosis (cont.)

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 Gingival Fibromatosis (cont.)
Gingival fibromatosis may be isolated, or a
component of several syndromes.
Laband syndrome
Gingival fibromatosis with hypertrichosis,
epilepsy, and mental retardation syndrome
Gingival fibromatosis with multiple hyaline
fibromas

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 Laband Syndrome
(pg. 210)
An autosomal dominant inheritance
Characterized by gingival fibromatosis,
dysplastic or absent nails, malformed nose and
ears, hepatosplenomegaly, and hypoplasia of
terminal phalanges of fingers and toes

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 Gingival Fibromatosis with Hypertrichosis
Epilepsy, and Mental Retardation Syndrome
(pg. 210)
An autosomal dominant inheritance
Characterized by hypertrichosis, especially of
the eyebrows, extremities, genitals, and sacral
region
Epilepsy and mental retardation are
inconsistent features of this syndrome.

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Gingival Fibromatosis with Multiple
Hyaline Fibromas
(pg. 210)
An autosomal dominant inheritance
pattern
Also known as Murray-Puretic Drescher
syndrome
Characterized by hypertrophy of the nail beds
and multiple hyaline fibrous tumors developing
on the nose, chin, head, back, fingers, thighs,
and legs

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 Inherited Disorders Affecting the
Jawbones and Facies
Cherubism
Ellis-Van Creveld Syndrome
Cleidocranial Dysplasia
Gardner Syndrome
Mandibulofacial Dysostosis
Nevoid Basal Cell Carcinoma Syndrome
Osteogenesis Imperfecta
Torus Mandibularis
Torus Palatinus
Maxillary exostosis
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 Cherubism
(pgs. 210-211)
An autosomal dominant with marked
penetrance in males and variable
expressivity and incomplete penetrance in
females
Clinical manifestation is a progressive bilateral
facial swelling that first appears when the
patient is 1.5 to 4 years of age.
Radiographs of the jaws reveal a characteristic
soap bubble or multilocular appearance
The areas are occupied by fibrous connective tissue
with multinucleated giant cells.
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 Cherubism (cont.)

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 Cherubism (cont.)
Most patients have pseudoanodontia.
Eventually, the bone acquires a more
normal appearance.
The facial deformity remains for life.

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 Ellis-Van Creveld Syndrome
(Chondroectodermal Dysplasia)
(pg. 212)
An autosomal recessive inheritance
pattern
Affected individuals are dwarfs.
Hands show polydactyly (extra digits) on the
ulnar side and fingernails and toes are
hypoplastic and deformed.
Oral manifestations include fusion of the
anterior portion of the maxillary gingiva to the
lip from canine to canine.

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 Ellis-Van Creveld Syndrome
(Chondroectodermal Dysplasia) (cont.)

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 Ellis-Van Creveld Syndrome
(Chondroectodermal Dysplasia) (cont.)
They will have a V-shaped notch in the
upper lip.
Central incisors are generally lacking and are
replaced by an abnormal, centrally located
tooth.
Most of the teeth have a conical shape with
enamel hypoplasia.

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 Cleidocranial Dysplasia
(pgs. 212-213)
Autosomal dominant, but about one half
the cases are isolated examples caused
by spontaneous mutation or a gene with
poor penetrance
The fontanelles remain open and the cranium
develops a mushroom shape.
The neck is long and narrow due to unilateral
or bilateral hypoplasia of clavicles.

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Cleidocranial Dysplasia (cont.)

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 Cleidocranial Dysplasia (cont.)
The premaxilla is generally
underdeveloped resulting in
pseudoprognathism.
The patients have many supernumerary teeth,
which are crowded in the jaws and do not
erupt.
Multiple cysts can develop in association with
impacted teeth.

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 Gardner Syndrome
(Familial Colorectal Polyposis)
(pgs. 212-213)
An autosomal dominant inheritance
pattern with variable expressivity and
marked penetrance
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 after.

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 Gardner Syndrome
(Familial Colorectal Polyposis) (cont.)

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 Mandibulofacial Dysostosis
(pgs. 212-214)
An autosomal dominant with incomplete
penetrance and variable expressivity
The facies shows downward sloping of
palpebral fissures, hypoplastic nose,
hypoplastic malar bones with hypoplasia or
absence of the zygomatic process, abnormal
and misplaced ears, and a receding chin.
The mouth appears fishlike.
These patients are deaf due to a lack of otic
ossicles (ear bones).

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Mandibulofacial Dysostosis (cont.)

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Mandibulofacial Dysostosis (cont.)
These patients have a hypoplastic
mandible with flattened condyles, coronoid
processes, and an obtuse mandibular
angle.
Teeth are malposed.
There is a malocclusion with anterior
openbite.
The palate is high with a cleft in about 30%
of the patients.

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 Nevoid Basal Cell Carcinoma
Syndrome (Gorlin Syndrome)
(pgs. 213-214)
An autosomal dominant inheritance
pattern with high penetrance and variable
expressivity
The facies is characterized by mild
hypertelorism (increased distance between the
eyes) and mild prognathism, frontal and
parietal enlargement and a broad nasal root.

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 Nevoid Basal Cell Carcinoma
Syndrome (Gorlin Syndrome) (cont.)

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 Nevoid Basal Cell Carcinoma
Syndrome
Nevi are observed on the skin typically,
they are basal cell carcinomas.
They continue to develop over the nose,
eyelids, cheeks, neck, arms, and trunk.
Oral lesions consist of multiple cysts of the
jaws; histologically, they are odontogenic
keratocysts.
Many skeletal anomalies have been noted.
Many different neoplasms have been reported
in association with this syndrome.

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 Osteogenesis Imperfecta
(pgs. 214-215)
An autosomal dominant inheritance
pattern with variable expression
Mutations occur that affect collagen, resulting
in abnormally formed bones that fracture
easily.
In mildest cases, individuals may only show
blue sclera (the whites of the eye).
Oral manifestations resemble dentinogenesis
imperfecta.
The teeth appear opalescent or translucent.
The enamel breaks off from defective dentin.
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Osteogenesis Imperfecta (cont.)

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 Torus Mandibularis
(pg. 215)
An autosomal dominant inheritance
pattern with variable expression and
marked penetrance
May be unilateral or bilateral
The size of the tori is variable; they may be
multilobulated.

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Torus Mandibularis (cont.)

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 Torus Palatinus
(pg. 215)
An autosomal dominant with variable
expression and almost 100% penetrance
More common in women than men
May be multilobular

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Torus Palatinus (cont.)

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 Maxillary Exostosis
(pg. 215-216)
An autosomal dominant inheritance
On the buccal aspect of the maxilla
May be single, multiple, unilateral, or bilateral

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Maxillary Exostosis (cont.)

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 Inherited Disorders Affecting the
Oral Mucosa
Isolated Cleft Palate and Cleft Lip with or
without Cleft Palate
Hereditary Hemorrhagic Telangiectasia
Multiple Mucosal Neuroma Syndrome
Neurofibromatosis of Von Recklinghausen
Peutz-Jeghers Syndrome
White Sponge Nevus

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Isolated Cleft Palate and Cleft Lip
with or without Cleft Palate
(pgs. 215-216)
May occur as a component of a large
number of syndromes
Cleft lip-palate and congenital lip pits are
the most common syndrome.
An autosomal dominant inheritance pattern
Labial pits are bilateral and located near the
midline of the vermilion border of the lower lip.

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Isolated Cleft Palate and Cleft Lip
with or without Cleft Palate (cont.)

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 Hereditary Hemorrhagic Telangiectasia
(Osler-Rendu-Parkes Weber Syndrome)
(pgs. 216-217)
An autosomal dominant
Characterized by multiple capillary dilations of
skin and mucous membranes
These are called telangiectasias
Similar lesions in mucosa of the nasal cavities
may cause epistaxis (nosebleeds)

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Hereditary Hemorrhagic Telangiectasia (Osler-
Rendu-Parkes Weber Syndrome) (cont.)

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 Multiple Mucosal Neuroma
Syndrome
(pgs. 216-217)
Multiple mucosal neuromas, medullary
carcinoma of the thyroid gland, and
pheochromocytoma are called multiple
endocrine neoplasia, type 2B (MEN2B).
An autosomal dominant inheritance pattern
with decreased penetrance
Affected individuals are tall with characteristic
thick, large lips and, often, everted upper
eyelids.

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Multiple Mucosal Neuroma
Syndrome (cont.)

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 Multiple Mucosal Neuroma
Syndrome (MEN2B Syndrome)
Mucosal neuromas are prominent on the lips
and the anterior dorsal surface of the tongue;
they also can occur on buccal mucosa and the
tongue.
Medullary carcinoma of the thyroid has been
diagnosed in more than 75% of patients with
this syndrome.
This has a high malignant potential.
Pheochromocytoma also develops in these
patients.
It is a benign neoplasm that generally develops in
ganglia around the adrenal glands.

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 Neurofibromatosis of Von
Recklinghausen
(pgs. 217-218)
An autosomal dominant inheritance
pattern
Multiple neurofibromas appearing as papules
and growths of various sizes are seen on facial
skin, especially the eyelids.
Malignant transformation can occur.
Oral lesions are characterized by single or multiple
tumors at any location in oral mucosa, most often on
the lateral border of the tongue .
Caf au lait pigmentation is seen on most of these
patients.

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Neurofibromatosis of Von
Recklinghausen (cont.)

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 Peutz-Jeghers Syndrome
(pgs. 217-218)
An autosomal dominant
Consists of multiple melanotic macular
pigmentations of skin and mucosa around the
eyes, nose, and mouth, associated with
gastrointestinal polyposis
Larger areas of pigmentation may be observed on
lips and buccal mucosa in most affected patients.
Pigmentation may also occur on hands, nasal
mucosa, and eyes.
Intestinal polyps are hamartomas (an abnormal
growth of normal tissue in its normal location).

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Peutz-Jeghers Syndrome (cont.)

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White Sponge Nevus (Familial White
Folded Mucosal Dysplasia)
(pgs. 217-218)
An autosomal dominant with complete
penetration
Characterized by a white, corrugated, soft,
folding buccal oral mucosa
Due to a thick layer of keratin

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 Inherited Disorders Affecting the
Teeth
Amelogenesis Imperfecta
Dentinogenesis Imperfecta
Dentin Dysplasia
Hyphidrotic Ectodermal Dysplasia
Hypophosphatasia
Hypophosphatemic Vitamin DResistant
Rickets
Pegged or Absent Maxillary Lateral
Incisors
Taurodontism
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 Amelogenesis Imperfecta
(pgs. 218-219)
A group of inherited conditions affecting
the enamel of teeth with no associated
systemic defects
Four types

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Amelogenesis Imperfecta (cont.)

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 Amelogenesis Imperfecta
Type I Hypoplastic amelogenesis imperfecta
The tooth enamel does not develop to a normal
thickness.
Type II Hypocalcified amelogenesis imperfecta
Normal thickness but poorly calcified
Type III Hypomaturation amelogenesis
imperfecta
The enamel is softer than normal.
Type IV Hypoplastic-hypomaturation
amelogenesis imperfecta
Associated with taurodontic teeth
Yellow to brown pitted enamel

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 Dentinogenesis Imperfecta
(pgs. 219-220)
Multiple types
Associated with osteogenesis imperfecta
Hereditary opalescent dentin
No pulp chambers or root canals are seen.
Roots are short and thin with periapical
radiolucencies.

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Dentinogenesis Imperfecta (cont.)

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 Dentin Dysplasia
(pgs. 219-221)
An autosomal dominant inheritance pattern
Divided into
Type I radicular
The teeth have normal crowns and abnormal roots.
The teeth are generally exfoliated prematurally.
Type II coronal
Primary teeth are translucent with an amber color.
Adult teeth appear normal.

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Dentin Dysplasia (cont.)

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Hypohidrotic Ectodermal Dysplasia
(pgs. 220-222)
A genetic heterogenecity
May be inherited in more than one way
Characterized by
Hypodontia partial anodontia
Hypotrichosis decreased hair
Hypohidrosis decreased sweating

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Hypohidrotic Ectodermal Dysplasia
(cont.)

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Hypohidrotic Ectodermal Dysplasia
Individuals may die from hyperthermia.
Facies has frontal bossing, depressed nasal
bridge, protuberant lips, and almost complete
lack of scalp hair.
Oral manifestations consist of hypodontia or
anodontia teeth have small, conical crowns.

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 Hypophosphatasia
(pg. 222)
An autosomal recessive inheritance
pattern
A decrease in serum alkaline phosphatase
levels
Alkaline phosphatase affects formation of bone and
cementum.
Teeth do not have cementum and are exfoliated
prematurely.

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Hypophosphatasia (cont.)

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 Hypophosphatemic Vitamin
DResistant Rickets
(pg. 222)
An X-linked dominant inheritance pattern
Low serum levels of phosphorus
These people have large pulp chambers with
very long pulp horns.
The dentin has pronounced cracks, which
leads to pulpal infections.

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Pegged or Absent Maxillary Lateral
Incisors
(pgs. 222-223)
An autosomal dominant inheritance
pattern with variable expression
Lateral incisors may be small, peg shaped, or
congenitally missing.

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Pegged or Absent Maxillary Lateral
Incisors (cont.)

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 Taurodontism
(pgs. 222-223)
A genetic heterogeneous condition with
dominant and recessive inheritance
Large, pyramid-shaped molars with large pulp
chambers
The furcation of the tooth is displaced apically.

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Taurodontism (cont.)

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 Discussion Questions
What is the difference between mitosis and
meiosis?
What is the Lyon hypothesis?
What is Turner syndrome?

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