Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
105 Cards in this Set
- Front
- Back
origin of clefts theories/factors
|
genetic, chromosomal environmental teratogens, mechanical factors (multifactorial threshold factors)
|
|
chromosome
|
chromosome is "a single, linear double strand of DNA with associated proteins that function to organize and compact the DNA and or function in regulating gene activity. Thousands of genes are found in each chromosome. They consist of “coding" sequences that determine what the gene does, and "non-coding" sequences that determine when the gene is active"
|
|
genome
|
"chromosomes and DNA, complete set of instructions for cell replication and organism differentiation"
|
|
chromosome
|
"single, linear double strand of DNA"
|
|
allele
|
"Alternative forms of a gene that differ at the level of the DNA sequence"
|
|
autosome
|
is a non sex chromosome
|
|
gene
|
"Functional unit of heredity, consists of coding regions that determine what the gene does, and non coding regions that determine when the gene is active (expressed), occupies a fixed position (locus) on a chromosome. Genes achieve their effects by directing the synthesis of proteins"
|
|
autosome
|
of 22 chromosomes has two copies, one from each parent
|
|
sex chromosome
|
the 23rd pair of chromosomes
|
|
DNA is organized
|
into 46 chromosomes in most cells
|
|
karotype
|
chromosomal analysis
|
|
centomere
|
a specialized condensed region of each chromosome that appears during mitosis where the chromatids are held together to form an X shape
|
|
Mendelian inheritance
|
autosomal dominant, autosomal recessive, X linked
Manner in which genes and traits are passed from parents to children. Examples of Mendelian inheritance include autosomal-dominant, autosomal-recessive, and sex-linked genes. |
|
autosomal dominant
|
does not skip generations
An affected person mating with an unaffected person produce 50% affected offspring |
|
phenotype
|
outward, physical manifestation" of the organism. These are the physical parts, the sum of the atoms, molecules, macromolecules, cells, structures, metabolism, energy utilization, tissues, organs, reflexes and behaviors; anything that is part of the observable structure, function or behavior of a living organism.
|
|
autosomal recessive
|
A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
If both parents are carriers, there is a 25% chance of a child inheriting both abnormal genes and, consequently, developing the disease. There is a 50% chance of a child inheriting only one abnormal gene and of being a carrier, like the parents, and there is a 25% chance of the child inheriting both normal genes. Trait often skips generations |
|
X linked recessive
|
one of the basic patterns of inheritance. In autosomal recessive inheritance, a defect in both of the two copies (alleles) of a gene leads to a disorder. In other words, a person affected with the disorder inherited one defective allele from each parent. When the defective alleles are part of one of the X-chromosome, the disorder it causes is called X-linked recessive. An X-linked recessive disorder is inherited through generations in a particular pattern, and, because females have two X-chromosomes and males only one, females and males are affected differently: (i) Nearly all affected persons are male; (ii) affected males never transmit the disorder to their sons; (iii) all daughters of an affected male will be carriers; (iv) carrier females transmit the disorder to half of their sons; (v) half the daughters of carrier females will themselves be carriers; (vi) an affected male and a carrier female will, on average, transmit the disorder to half of their daughters and half their sons.
|
|
p arm
|
petite arm
|
|
q arm
|
long arm
|
|
X linked dominant
|
one of the basic patterns of inheritance. In dominant inheritance, a defect in only one of the two copies (alleles) of a gene leads to a disorder. In other words, a person affected with the disorder inherited a defective allele from only one parent. When the defective allele is part of one of the X-chromosome, the disorder it causes is called X-linked dominant. An X-linked dominant disorder is inherited through generations in a particular pattern, and, because females have two X-chromosomes and males only one, females and males are affected differently: (i) Affected males transmit the disorder to all of their daughters but none of their sons; (ii) affected females with one defective gene will transmit the disorder to half of their children, with males and females equally affected; (iii) affected females with both genes defective will transmit the disorder to all of their children; (iv) twice as many females as males will have this disorder, unless the disorder is lethal in males.
|
|
genotype
|
genetic makeup
|
|
Non Mendelian inheritance
|
general term that refers to any pattern of inheritance in which traits do not segregate in accordance with Mendel’s laws.
|
|
monosomy
|
presence of a single copy of a chromosome
|
|
trisomy
|
presence of a one extra copy of a chromosome
|
|
chromosomal abnormalities
|
deletions, duplications, inversions, and translocations.
|
|
syndrome
|
multiple
|
|
continuous variation
|
on a continum
Variations between individuals of a population in a character or trait in which the differences are slight and occur as a continuous series. |
|
genetic abnormalities consist of
|
autosomal dominant inheritance
recessive genetic inheritance X linked inheritance chromosomal abnormalities |
|
threshold disorder
|
the trait is either present or absent. As the number of risk factors for the trait increases, the additive risk may cross a boundary or threshold, resulting in expression of the trait
|
|
Multifactorial model
|
the type of hereditary pattern seen when there is more than one genetic factor involved and, sometimes, when there are also environmental factors participating in the causation of a condition
|
|
teratagens
|
an agent, such as a virus or a drug (environmental factors) capable of interfering with the development of a fetus, causing birth defects and/or known to increase risks for birth defects
|
|
genetic rules
|
risk decrease the mor distant from the proband
risk depends on the number of affected family members risk is higher if same sex as proband more severe greater the risk |
|
syndrome
|
multiple anomalies that regularly occur together with common or suspected cause
|
|
sequence
|
multiple anomalies that arise from a single prior anomaly or mechanical factor
|
|
% of clefts associated with a syndrome
|
30 to 53 % (2000)
|
|
# of syndromes associated with a cleft
|
over 500 most cleft palate only
|
|
If a child has a cleft lip, according to statistics, the child is ...
|
more likely to be male, the cleft is most likely on the left more likely to be unilateral
|
|
4 etiologies of syndromes
|
genetic disorder, chromosome abnormalities, teratogenic influences, mechanical factors
|
|
Does incidence (#of new cases) CLP or CPO vary by race?
|
CLP
|
|
frequency of CL
|
20 to 25%
|
|
Frequency of CLP
|
50%
|
|
Frequency of CPO
|
25 - 30%
|
|
CLP is more common in
|
males
|
|
CPO is more common in
|
females
|
|
CPO ratio is
|
1/1500
|
|
CPO is more likely to be associated with an ...
|
underlying syndrome
|
|
patients with clefts of secondary palate and those with more severe clefts are more likely to have
|
more problems of associated anomalies
Overall 62% CL 44.6% CLP 50.3 CPO 67.9 Submucous 76.8% |
|
Thoe with associated anomalies are likely to have a
|
syndrome
|
|
Velocardiofacial /Deletion 22q11.2 syndrome is
|
a deletion of part of band 11 on the long arm of chromosome 22 is determined with the FISH test
autosomal dominant 80 to 9% of cases represent new deletions with no prior family history 1/4000 |
|
Facial features of Velocardiofacial
|
long face wide nasal bridge, small nostrils, deficient nasal ala, downward sloping of the palpebal fissure (outward corner of eye) abundant scalp hair
|
|
Common syndromes with clefts
|
Velocardiofacial
Van der Woude Stickler Pierre Robin Fetal alcohol Crouzon Apert Hemifacial Microsomia CHARGE Treacher Collins |
|
Thinking about clefting in velocardiofacial syndrome the percentage and type of cleft of occurrance is normally
|
98% Submucous/CP
|
|
Ratio of clefting
|
1/750
|
|
What race has the highest incidence of clefts?
|
North American Indians, , followed by Japanese, Chinese, Whites, and then African Americans.
|
|
Knowing full range of anomalies that COULD be associated w/ syndrome
|
improves patient care
|
|
Incidence of Pierre Robin sequence
|
1/8500 equally affecting males and females
Can occur in isolation, but is associated with an underlying syndrome over 50% Occurs iwth over 30 syndromes |
|
Condition of Pierre Robin is characterized by
|
micrognathia, glossotopsis, respiratory distress
occurs with over 30 syndromes |
|
What starts the sequence?
|
The basic cause appears to be the failure of the lower jaw to develop normally before birth. At about 7-10 weeks into a pregnancy, the lower jaw grows rapidly, allowing the tongue to descend from between the two halves of the palate. If, for some reason, the lower jaw does not grow properly, the tongue can prevent the palate from closing, resulting in a cleft palate. The small or displaced lower jaw also causes the tongue to be positioned at the back of the mouth, causing breathing difficulty at birth.
|
|
Characteristics of Van der Woude
|
autosomal dominant chromosome 1 q arm
CL/P lip pits hypodonitia normally normal speech development speech problems related to clefting |
|
Ratio of Stickler Syndrome
|
1 in 7500 to 9000 autosomal dominant
Progressive Cleft palate 57% prevalence |
|
Characteristics of Stickler
|
cleft palate, hearing loss, Pierre Robin is common, joint degeneration, renal detachment and cataracts, maxillary and mandibular hypoplasia, long philtrum, cleft palate from submucous to overt to VPI, flat midface
|
|
Fetal alchohol syndrome
|
low birth weight, microcephaly, cleft palate, short nose, maxillary hypoplasia, smooth philtrum and upper lip joint abnormalities, hypertelorism,protruding ears,
|
|
Treacher Collins
|
small jaw down slanting eyes, malformed ears, hearing loss, underdeveloped zygomatic bone autosomal dominant 1/100000
|
|
CHARGE syndrome
|
Coloboma, heart defect, atresia, retarded growth, geniturinary, ear abnormalities
|
|
Hemifacial microsimia
|
lower half of one side of face is underdeveloped (1st and 2nd brachial arch syndrome includes ear and mandible)
|
|
Apert
|
fused digits skull prematurely fused
|
|
Crouzon
|
1st brachial arch disorder cranial synostosis, hypertelorism, hypoplastic maxilla, mandibular prognathism
|
|
Teratogenic influences include
|
alcohol, nutritional deficiencies, infections, drugs, environmental toxins, radiation
|
|
mechanically induced clefts
|
intrauterine crowding, tears in amnion, twins uterine tumor, abnormal uterus
|
|
hypodontia
|
lack of appropriate number of teeth
|
|
Primary palate includes
|
lip, alveolus, prepalate
|
|
Secondary palate includes
|
hard palate, soft palate,uvula
|
|
Extent of a cleft is measured in
|
thirds
|
|
Width of a cleft is measured in
|
mm
|
|
Normal cranial base angle should be
|
120 to 130 degrees
|
|
landmarks of the cranial base angle are
|
nasion (bridge of nose) sella turcia basion (anterior to anterior tubercule)
|
|
Effective length means
|
velum is at 70%
|
|
Classic submucous cleft includes
|
bifid uvula, notch in HP, blue midline
|
|
Other problems with clefts and cranofacial anomalies
|
breathing feeding hearing loss dental ear malformations E tube dysfunction psychosocial aspects
|
|
orticochea
|
sphincter pharyngoplasty
|
|
syndactyly
|
2 or more digits fused together
|
|
coloboma
|
notch in lower eyelids
|
|
palatoplasty
|
repair of cleft palate to improve speech and restore barrier
|
|
repair of cleft lip is called
|
cheiloplasty
|
|
alveolar cleft bone grafting involves
|
placement of bone in alveolus
|
|
craniosynotosis
|
1 in 2000 cranial sutures close too soon
|
|
plagiocephaly
|
slanted head
|
|
brachycephaly
|
short flat head
|
|
metopic syntosis
|
premature fusion of the suture in the middle of the forehead
|
|
microtia
|
small incompletely formed external ear 1 out of 7000/8000
|
|
orthnographic surgery
|
fixes maloculsion
|
|
otoplasty
|
surgery to fix the ear
|
|
one in ____ people have a bifid uvula
|
76
|
|
Rule of 10s
|
10 weeks 10 pounds 10 hemoglobin
|
|
Secondary surgery is often performed when
|
late preschool early school years
|
|
How many need pharynoplasty after palatoplasty
|
25%
|
|
Presurgury for cleft lip includes
|
taping lip, dental elastics, Lantham appliance, palatal molding plate, nasal alveolar molding device
|
|
Initial repair of cleft lip can occur between
|
4 to 12 weeks
|
|
% of people with submucous cleft have velum problems
|
25 to 50%
|
|
cervical anomalies include
|
malformation of anterior tubercle, fusion of posterior process, occipitalization, obtuse cranial base angle
|
|
the teardrop above the soft palate is
|
pterygomaxillary fissure
|
|
The less popular cleft lip surgery is
|
Le Mesuriur
|
|
The most popular cleft lip repair surgery includes the
|
Millard rotation advancement technique 80%
|
|
Measurement of closure to see if length is present
|
PNS (posterior nasal spine - PH (pharyngeal) / soft palate length
|
|
Zipper effect
|
tongue drops lateral palatine processes come together fusing from incisive foramen all the way to uvula
|