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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