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141 Cards in this Set
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Genes that are located at the same level or locus in the two chromosomes of a pair and that determine the same funtions or characteristics.
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Alleles
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Main component of proteins.
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Amino acids
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Nonsex chromosomes, which are identical for men and women.
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Autosomes
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Condensed chromatin of the inactivated X chromosome, which is found at the periphery of the nucleus of cells in women.
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Barr body
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A heterozygous individual who is clinically normal but who can trasmit a recessive trait or characteristic; also, a person who is homozygous for an autosomal-dominant condition with low penetrance.
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Carrier
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Constricted portion of the chromosome that divides the short arms from the long arms.
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Centromere
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Either of the two vertical halves of a chromosome that are joined at the centromere.
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Chromatid
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Vertical sequence of three bases in DNA that codes for an amino acid.
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Codon
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A substance composed of a double chain of polynucleotides; double helix; basic genetic code for amino acid formation.
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DNA - Deoxyribonucleic acid
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Having two sets of chromosomes; the normal constitution of somatic cells.
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Diploid
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In genetics a trait or characteristic that is manifested when it is carried by only one of a pair of homologous chromosomes.
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Dominant
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Degree of clinical manifestation of a trait or characteristic.
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Expressivity
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Appearance of the face.
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Facies
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Spermatozoon or ovum
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Gamete
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Having more than one inheritance pattern.
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Genetic heterogeneity
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Cell with a single set of chromosomes; a gamete
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Haploid
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Individual with two different genes at the allele loci.
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Heterozygote
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Individual with identical genes at the allele loci.
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Homozygote
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Abnormally diminished secretion of sweat.
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Hypohidrosis
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Presence of less than the normal amount of hair.
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Hypotrichosis
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Photomicrographic representation of a person's chromosomal constitution arranged according to the Denver classification.
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Karyotype
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Position occupied by a gene on a chromosome.
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Locus or loci (pl)
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Two step cellular division of the original germ cells, which reduces the chromosomes from 4nDNA to 1nDNA.
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Meiosis
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Phase of cellular division in which the chromosomes are lines up evenly along the equatorial plane of the cell and in which they are most visible.
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Metaphase
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Cytoplasmic organelles that have their own DNA in a circular chromosome.
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Mitochondrial
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Way in which somatic cells divide so that the two daughter cells receive the same number of identical chromosomes.
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Mitosis
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Permanent change in the arrangement of genetic material.
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Mutation
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Process of formation of female germ cells (ova).
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Oogenesis
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Frequency with which a heritable trait is exhibited by individuals carrying the gene or genes that determine that trait.
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Penetrance
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Entire physical, biochemical, and physiologic makeup of an individual; the observable appearance.
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Phenotype
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The genetic composition of an individual.
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Genotype
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Trait or characteristic that shows clinically when a double-gene dose (homozygous) exists in autosomic chromosomes or a single-gene dose exists in males if the trait is X linked.
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Recessive
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Single strand of polynucleotides found in all cells; production of proteins.
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RNA -Ribonucleic acid
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Cytoplasmic organelles in which protein are formed on the basis of the geneitc code provided by RNA.
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Ribosomes
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Process of formation of spermatozoa
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Spermatogenesis
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Set of signs or symptoms occuring together.
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Syndrome
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Portion of a chromosome attached to another chromosome.
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Translocation
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Pair of chromosomes with an identical extra chromosome.
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Trisomy
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Each cell of the human body with the exception of mature cells (ova and sperm) have how many chromosomes?
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46, half derived from father and half from mother.
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All cells in the body with the exeption of ova and sperm are called?
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Somatic cells
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What are the three phases of mitosis and where does DNA replication take place?
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Gap 1 (G) Phase
S phase (dna replication) Gap 2 (G2) phase |
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What are the four stages of mitosis?
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Prophase
Metaphase Anaphase Telophase |
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In this phase of mitosis, chromosomes are arranged almost symmetrically at both sides of the center of the cell.
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Metaphase
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Long arms are known as?
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Q arms
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Short arms are known as?
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P arms
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During which phases of mitosis do chromatids split?
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Anaphase and Telophase
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In first meiosis, after pairing, the two chromosomes establish actual contact at different locations; these contacts are known as?
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Chiasmata
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This condition happens when three chromosomes 21 are found instead of two; slanted eyes, gingivoperidontitis, fissured tongue, hypodontia TREATMENT: root planning and scaling.
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Down syndrome
Trisomy 21 |
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In which meiosis phase does the chromosome split longitudinally?
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Second Meiosis
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The inactivation of one of teh X chromosomes in a female embryo was postulated by and is known as?
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mary Lyon
Lyon hypothesis |
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Chromosomes contain DNA; the basic unti of DNA is called ________ and DNA has four bases and they are ____________.
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Nucleotide
ADENINE GUANINE THYMINE CYTOSINE |
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Which base of DNA pairs with which?
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A/T adenine to thymine
GC guanine to cytosine |
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A ____________ is often equated with the unit that forms a polypeptide.
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Gene
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Responsible for the production of protein and uses the base Uracil which replaces Thymine in DNA
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RNA - Ribonucleic acid
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What are the four types of RNA?
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mRNA messenger rna
tRNA transfer rna rRNA ribosomal rna hnRNA heterogeneous rna |
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Type of RNA which is a blueprint of teh genetic DNA for the coding of proteins.
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mRNA
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Type of RNA which brings amino acids from the cytoplams to the ribosomes.
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tRNA
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Type of RNA which combines with several polypeptides to form ribosomes.
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rRNA
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Type of RNA which is found within the nucleus and is the precursor of mRNA.
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hnRNA
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Two categories of Chromosome abnormalities.
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Gross abnormalities
Molecular abnormalities |
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Which category of chromosome abnormality occurs at the DNA level and cannot be viewed microscopically?
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Molecular abnormality
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Gross chromosomal alterations can be observed in a ________.
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Karyotype
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What type of gross chromosomal abnormalities do these represent: Euploid, Polyploid, and Aneuploid?
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Alterations in number
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What type of gross chromosomal abnormalities do these represent: Deletion, Inversion, Duplication?
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Alterations in structure
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A condition that is a result of nondisjunction and it's mostly associated with late maternal age at the time of conception; characterized by slanted eyes, shorter, heart abnormalities, intelligence from near normal to marked handicap.
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Trisomy 21 aka Down syndrome
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What are the oral manifestations of Down syndrome?
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Fissured tongue
Premature loss of teeth Bone loss Gingival and Periodontal disease Hypodontia Abnormally shaped teeth Crowding of teeth |
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70% of live-born infants die withint the first 7 months; cleft lip and palate, microphthalmia or anophthalmia; growth retardation; polydactyly of hands and feet, clenching of the fist with thumb under fingers, heart malformations, anomalies of external genitals; one extra chromosome.
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Trisomy 13
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One X chromosome missing; webbing of neck; edema of hands and feet, chest is broad with wide-spaced nipples; body hair is sparse; ovaries not developed; primary amenorrhea; lack of Barr bodies.
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Turner syndrome
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Once extra X chromosome in the ova of older woman; condition cannot be detected until after pubity; taller; 50% have development of female breasts; lower intelligence; smaller testes; underdeveloped maxilla; presence of one Barr body for each extra X chromosome; gynecomastia; karyotype shows two X chromosomes or more.
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Klinefelter syndrome
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Newborns with a chromosome 5 deletion exhibit a cat like cry at birth and they are mentally retarded; no oral abnormalities.
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Cri du chat (Cat Cry) syndrome
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Most newborns with the deletion in the short arm of chromosome 4 have a cleft palate and lower intelligence.
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Wolf-Hirschhorn syndrome
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What are the four possible inheritance patterns?
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Autosomal dominant
Autosomal recessive X-linked dominant X-linked recessive |
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A condition having this type of inheritance is transmitted vertically from one generation to the next.
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Autosomal-dominant inheritance
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An individual can carry a gene with a dominant effect without presenting any clinical manifestations.
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Lack of penetrance
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Both parents are carriers of a trait and child is homozygous for the gene; child is affected with that trait.
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Autosomal-recessive inheritance
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Where do X-linked trait transmittions not able to occur?
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Male to male (father to son) transmission because the male's X chromosome is only transmitted to females and not males.
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If a mother has a dominant X-linked trait what are the results?
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All offsprings are affected because of the dominance of the X chromosome.
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If a mother has a recessive X-linked trait what are the results?
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50% risk of having affected male and 50% risk of having carrier daughter
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What is the Lyon hypothesis?
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One of the X chromosomes in the female if genetically cancelled at an early stage in embryonic development.
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Recessive means that the individual must be _________ in order for the trait to be seen.
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Homozygous
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Is blood group O recessive or dominant?
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recessive
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Is blood group A recessive or dominant?
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dominant
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Group AB is said to be?
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Codominant
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The four inheritance patterns refer to the characteristics that are governed by the action of one gene.
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Single-gene inheritance
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The characteristics or traits that are inherited by the participation of several genes.
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Oligogenic inheritance
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Most physical characteristics including tooth shape, form and eye color are determined by ___________ inheritance.
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Oligogenic inheritance
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Responsible gene is ELA-2 (neutrophil elastase gene) chromosome 19; characterized by a decrease in number os neutrophils.
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Cyclic neutropenia
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What are the clinical manifestations of cyclic neutropenia?
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Fever
Malaise Sore throat Cutaneous infections Severe ulcerative gingivitis or gingivostomatitis Ulcers on the tongue and oral mucosa that have a craterlike appearance; very painful and have bleeding ORAL MUCOSA & PERIODONTIUM: GINGIVITIS, PERIODONTITIS ULCERS, HEMORRHAGE |
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A decrease in the number of circulating neutrophils.
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Neutropenia
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This type of neutropenia is inherited as an autosomal dominant and this type is inherited as an autosomal recessive.
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Cyclic - dominant
Chronic - recessive |
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Chronic neutropenia is also known as ____________.
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Kostmann syndrome
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What serious conditions can cyclic neutropenia lead to?
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Severe peridontal disease
Loss of alveolar bone Tooth mobility Exfoliation of teeth |
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What conditions are treated with periodic G-CSF?
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Cyclic and Chronic neutropenia
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Marked destruction of periodontal tissues (periodontoclasia); premature loss of teeth (all teeth lost by age 14); hyperkeratosis of teh palms of hands and soles of feet; at 1 1/2 to 2 years of age there is marked gingivoperiodontal inflammation causing edema, bleeming, alveolar bone resorption, mobility of teeth.....teeth are lost, permanent dentition erupts, pattern is repeated.
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Papillon-Lefevre syndrome
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What is the treatment for papillon-lefevre syndrome?
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Retinoid therapy is used for the skin condition but has no effect on periodontal disease.
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Hyperkeratinization of the palms and soles; starts at the tips of fingers and toes and extends to the surface of the palms and soles.
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Focal Palmoplantar Hyperkeratosis
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Hyperkeratinization of the labial and lingual gingiva.
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Focal Gingival Hyperkeratosis
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This syndrome includes gingival hypertrophy.
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Gingival fibromatosis
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Condition that causes extensive gingival enlargement which covers teeth completely within a few years.
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Gingival hypertrophy
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This syndrome includes gingival fibromatosis, dysplastic or absent nails and malformed nose and ears, enlarged liver and spleen (hepatoslenomegaly) and hypoplasia of terminal phalanges of the fingers and toes with a froglike appearance.
MARKED GINGIVAL HYPERPLASIA, ABNORMAL NAILS, SHORT FINGERS AND TOES |
Laband syndrome
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Syndrome that incluses gingival fibromatosis with hypertrichosis(excessive hair growth), epilepsy, and mental retardation. AFFECTS GINGIVA, HAIR, CENTRAL NERVOUS SYSTEM, GINGIVAL HYPERPLASIA, ABUNDANT BODY HAIR, EPILEPSY
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Gingival fibromatosis with hypertrichosis, epilepsy, and mental retardation syndrome.
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Hypertrophy of the nail beds and multiple hyaline fibrous tumors developing on the nose, chin, head, back, fingers, thighs, and legs. AFFECTS THE GINGIVA, NAILS, MUCOSA, AND SKIN; GINGIVAL HYPERPLASIA, HYPERTROPHY OF NAILS, MULTIPLE TUMORS
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Gingival fibromatosis with multiple hyaline fibromas aka Murray-Puretic Drescher syndrome.
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Progressive bilateral facial swelling that appears between the age of 1 1/2 and 4 years of age; mandible is mostly involved, when maxilla is involved there is a displacement of the eyes; radiograph shows soap-bubble appearance of jaws; associated with pseudoanodontia, size of jaw tends to increase rapidly until age 20 to 30, bone appears normal but facial deformity remains. BILATERAL ENLARGEMENT OF FACE; MANDIBLE.
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Cherubism
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This syndrom affects dwarfs; hands show supernumerary digits; fingernails and toenails are deformed; curved legs; heart defects; anomalies of genitals. AFFECTS GINGIVAL, TEETH, ALVEOLAR RIDGE, HANDS; ABSENT UPPER VESTIBULE, SERRATED LOWER ALVEOLAR RIDGE, POLYDACTYLY.
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Ellis-Van Creveld Syndrome
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What are the oral manifestations of Ellis-Van Creveld Syndrome?
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Fusion of the anterior portion of the maxillary gingiva to the upper lip from canine to canine; v-notch appearance in the midline of upper lip; central incisors generally lacking or replaced by centrally located abnormal tooth; conical shape teeth; enamel hypoplasia; 50% have natal teeth.
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In this condition, the cranium develops a mushroom shape because the fontanelles remain open, face appears small; the neck is long and narrow and there is hypoplasia of clavicles. AFFECTS TEETH, CLAVICLES, SKULL; SUPERNUMERARY TEETH, ABSENT CLAVICLES, OPEN FONTANELLES
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Cleidocranial dysplasia
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What are the oral manifestations of Cleidocranial dysplasia?
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Supernumerary teeth
Third dentition Pseudoanodontia Lack of cellular cementum Multiple cysts in association with impacted teeth. |
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Also known as familial colorectal polyposis; presence of osteomas in various bones, especially the frontal bones, mandible, and maxilla; facial asymmetry; odontomas can occur in the jawbones, especially the mandible, teeth exhibit hypercementosis and fail to erupt; the most serious component of the condition is presence of intestinal polyps which become malignant by age 30. AFFECTS THE MANDIBLE AND MAXILLA; MULTIPLE OSTEOMAS, COLON POLYPS, ADENOCARCINOMA
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Gardner Syndrome
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The facies shows downward sloping of the palpebral fissures, a hypoplastic nose, hypoplastic malar bones with hypoplasia or absence of zygomatic processm; abnormal and misplaced ears, and a receding chin; the mouth appears fishlike; downward sloping of the lip commisures; lower eyelids show a cleft; lack of lashes; ears may exhibit tags; deafness. MANDIBLE, TEETH, EARS; HYPOPLASTIC MANDIBLE, MALPOSED TEETH, DEAFNESS.
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Mandibulofacial dysostosis
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What are the oral manifestations of the mandibulofacial dysostosis?
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Hypoplastic mandible
Flattened condyles Malposed teeth Malocclusion with open bite High palate Cleft Gingival disease |
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Also known as Gorlin syndrome; mild hypertelorism (increased distance between the eyes); frontal and parietal enlargement and broad nasal root; congenital lesions characterized by skin pigmentation called nevus or nevi (pl) can be found on the nose, eyelids, cheeks, neck, arms, and trunk; they can be flesh colored or brown and develop singly or clusters; palms and soles show small pits that become filled with dirt and appear like dark spots; associated with bifurcation of ribs (hunchback); and medulloblastoma (brain tumor). AFFECTS THE MANDIBLE, MAXILLA, SKIN; MULTIPLE ODONTOGENIC KERATOCYSTS AND BASAL CELL CARCINOMA
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Nevoid Basal Cell Carcinoma Syndrome
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Congenital lesion characterized by skin pigmentation found in nevoid basal cell carcinoma syndrome.
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Nevus
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What are the oral manifestations of nevoid basal cell carcinoma syndrome?
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Multiple cysts of the jaws
Occasionally ameloblastoma arises in these cysts Cysts may arise at age 5 or 6 and may interfere with normal development of jawbone and teeth. |
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The basic defect of this condition involves collagen and results in abnormally formed bones that fracture easily; bowing of legs, curvature of spine; deformity of skull; shortening of arms and legs; the mildest form is blue sclerae.
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Osteogenesis Imperfecta
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What are the oral manifestations of Osteogenesis imperfecta?
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Dentinogenesis imperfecta like condition; primary teeth are affected 80% of patients; teeth appear opalescent or translucent at time of eruption; the enamel is lost.
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Bony overgrowth that occurs on the lingual aspect of the mandible; symptomless and generally requires no treatment.
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Mandibular tori
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Bony overgrowth that occurs on the midline of the palate; mostly affects women; rarely seen in children younger than 14; symptomless.
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Torus Palatinus
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Tori that generally develop on the buccal aspect of the maxillary alveolar ridge usually molar and premolar area; symptomless.
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Maxillary Exostosis
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Van der Woude Syndrome includes which conditions?
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Cleft lip palate and congenital lip pits.
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The labial pits are bilateral and are located near the midline of teh vermillion border of the lower lip; 3 mm or more; occasionally exude saliva; some patients that do not have clefting are missing max lateral or develop peg laterals; associated with cleft uvula and ankyloglossia.
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Cleft lip-palate and congenital lip pits syndrome.
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Also known as Osler-Rendu-Parkes Weber syndrome; multiple capillary dilations on the skin and mucous membranes; the skin on the face shows numerous pinpoint and spiderlike telangiectases, esp. on lips, eyelids, and around nose; scalp and ears are affected too; lesions are present in nasal mucosa and are responsible for nosebleeds that last several days (epistaxis). AFFECTS MUCOUS MEMBRANES AND SKIN; GINGIVAL BLEEDING
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Hereditary Hemorrhagic Telangiectasia.
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What are the oral manifestations of the Hereditary Hemorrhagic Telangiectasia?
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Telangiectases found on tip and anterior dorsum of the tongue; hemorrahge from sites in oral cavity such as lips and tongue; risk of gingival hemorrhage.
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Patients are tall, thick large lips; everted upper eyelids; mucosal nodes are prominent on the lips and anterior dorsal of the tongue; the mucosal neuromas are seen as multiple, mobile, firm lumps covered by normal mucosa; associated with carcinoma of the thyroid; 20% patients die. AFFECTS ORAL MUCOSA, ESP TONGUE; MULTIPLE NODES ON TONGUE TIP, LIPS AND CHEEK MUCOSA.
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Multiple Mucosal Neuroma Syndrome
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Benign neoplasm that generally develops in ganglia around the adrenal glands; responsible for night sweats, high blood pressure, and episodes of severe diarrhea; increased urinary levels of epinephrine; cutaneuous pigmentation and skeletal abnormalities.
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Pheochromocytoma
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Multiple neurofibromas that appear as papules and growths of various sizes, on facial skin, esp. eyelids; also develop in the central nervous system, eyes, ears, viscera, and intraosseous locations; mental disability and skeletal anomalies.; cafe au lait pigmentation of skin is present in 90% of patients during the first decade of life.
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Neurofibromatosis of Von Recklinghausen
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What are the oral manifestations of Neurofibromatosis of Von Recklinghausen
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Single or multiple tumors at any location in the oral cavity most frequently on lateral borders of the tongue; gingival neurofibromas can also occur.
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Multiple melanotic macular pigmentations around the eyes, nose, and mouth; lips and buccal mucosa; pigmentation of the hands, nasal mucosa, associated with gastrointestinal polyposis. AFFECTS SKIN, ORAL MUCOSA, SMALL INTESTINE; PIGMENTED MACULES IN PERIORAL SKIN AND ORAL MUCOSA.
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Peutz-Jeghers Syndrome
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Also known as Cannon disease, caused by the mutation of the keratin pair K4 and K13; white, corrugated, soft, folding oral mucosa; buccal mucosa is always affected; thick layer of keratin causes the whitening. AFFECTS BUCCAL MUCOSA; BILATERAL WHITENING OF BUCCAL MUCOSA.
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White Sponge Nevus aka Cannon disease and familial white folded mucosal dysplasia
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Tooth enamel that does not develop to a normal thickness because of failure of the ameloblasts to lay down enamel matrix properly; pitted, local, smooth, rough, and enamel agenesis. RANDOM PINPOINT PITS ON LABIAL AND LINGUAL
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Hypoplastic amelogenesis imperfecta.
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Enamel of normal thickness that is poorly calcified; yellow to orange enamel that is very solt and rapidly lost, leaving exposed dentin; moth-eaten appearance; associated with anterior open bite. CHEESY SOFT ENAMEL, ANTERIOR OPENBITE
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Hypocalcified amelogenesis imperfecta
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Enamel with mottled apperance but normal thickness; composed of large amounts of enamel matrix; enamel is softer than normal; enamel chips easily; associated with snow-capped type which show maxillary teeth with whitish discoloration; enamel in this type is of regular strenght and does not chip off. ENAMEL SOFTER THAN NORMAL CHIPS EASILY
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Hypomaturation amelogenesis imperfecta
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This type of amelogenesis has yellow to brown teeth; pitted; large pulp chambers and is associated with taurodontic teeth. WHITE DISCOLORATION SURFACE ENAMEL OCCLUSAL ONE THIRD
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Hypoplastic-hypomaturation amelogenesis imperfecta
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Is also known as hereditary opalescent dentin; teeth are bulbous; brown to brownish-blue; primary teeth are usually affected; dentin is very soft; chipping of enamel, attrition; no pulp or root canals are seen on radiographs; defect lies in odontoblasts that lay down abrnormal matrix and then degenerate.
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Dentinogenesis Imperfecta
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Dentin Dysplasia is subdivided into type 1 and type 2 which are named?
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Type 1 is radicular dentin dysplasia
Type 2 is coronal dentin dysplasia |
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Teeth with normal crowns, abnormal roots; defect in disturbance of Hertwig's epithelial root sheath; radiographs show partial or total lack of pulp chambers and root canals; teeth may exfoliate prematurely; periapical cysts may be present.
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Radicular dentin dysplasia
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Translucent teeth with an amber color in primary dentition; radiographs show lack of pulp chambers and small root canals; permanent teeth present normal crown formation with normal color; radiographs show thistle-shaped pulp chambers in single-rooted teeth and bow-tie appearance of the pulp chambers of permanent molars.
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Coronal dentin dysplasia
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Its major components are hypodontia; less than normal amount of hair; diminished sweat secretion; fevers; some patients die of hyperthermia after prolonged exposure to sun or excercise; marked frontal bossing, saddle nose; protruded lips, complete lack of scalp hair; if hair is present it's blonde, short, fine, and stiff; skin is soft, thin, and very dry.
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Hypohidrotic Ectodermal Dysplasia
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What are the oral manifestations of hypohidrotic ectodermal dysplasia?
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Hypodontia or rarely anodontia
When present incisors and canines have small conical corwns; alveolar bone is formed only when teeth are present; lack of minor salivary glands. |
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Spontaneous premature shedding of primary teeth especially mandibular incisors with no evidence of periodontal or gingival disease; total lack of cementum and lack of periodontal fiber attachment; improper formation of mature bone; rachitic-like changes such as bowing of legs and multiple fractures. AFFECTS BONES AND TEETH; PREMATURE LOSS OF PRIMARY ANTERIOR TEETH
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Hypophosphatasia
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Low levels of phosphorus; short stature; bowlegs; large pulp chambers with very long pulp horns; dentin cracks; pulpal infection; periapical abscess; gingival abscess; regional lymphadenitits.
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Hypophosphatemic Vitamin D-Resistant Rickets.
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Very large pyramid shaped molars with large pulp chambers; forcation of roots is apical; frequently found in Klinefelter syndrome (XXY).
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Taurodontism
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