Term
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Definition
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Term
|
Definition
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Term
| Broadly, what happens to get a birth defect (congenital anomaly)? |
|
Definition
| Disruption (genetic or environmental in the normal process of growth and development |
|
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Term
| What percent of live births have a birth defect? |
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Definition
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Term
| What fraction of birth defects are craniofacial anomalies? |
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Definition
| 1/3 or 1-2% of all children born |
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Term
| Etiology of birth defects? |
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Definition
| genetics, polygenetic (multiple genes involved), monogenetic (follows mendelian inheritance), chromosomal abnormalities (deletion, duplication, translocation, etc.) |
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Term
| Percent of congenital anomalies that are: Polygenetic/mendelian inheritance? |
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Definition
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Term
| Percent of congenital anomalies that are: Chromosomal aberrations? |
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Definition
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Term
| Percent of congenital anomalies that are: Environmental factors? Teratogens |
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Definition
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Term
| Percent of congenital anomalies that are: Unknown factors? |
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Definition
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Term
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Definition
| the development of a structure is arrested, delayed, or misdirected early in embryonic life and the effect is permanent |
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Term
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Definition
| a change from the normal size or shape of an anatomic structure due to mechanical forces that distort an otherwise normal structure. |
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Term
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Definition
| a malformation that is present at birth. (If the malformation is discovered later in life but was present a birth, it is still called a congenital anomaly.) |
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Term
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Definition
| an anomaly that arises as a result of the genetic constitution of the embryo. A congenital anomaly can be inherited or the result of an environmental insult. |
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Term
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Definition
| a child with multiple congenital anomalies |
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Term
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Definition
| A combination or set of detectable signs or symptoms that tend to occur together |
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Term
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Definition
| the study of congenital anomalies. |
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Term
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Definition
| environmental agent including drug, chemical, virus that causes a congenital anomaly |
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Term
| Craniofacial anomalies mostly arise from disruption of...? |
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Definition
| cross-talks b/w cells during three inductive stages of normal development |
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Term
| The three inductive phases of normal development are? |
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Definition
1.Generation and migration of NCC into facial region/BA
2.Inductive events between migrating cells and adjacent epithelia and formation of facial processes
3.More subtle epithelial-mesenchymal interactions and formation of specialized tissues |
|
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Term
Generation and Migration of NCC into the facial Region
What can lead to craniofacial malformations? |
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Definition
Abnormalities in NCC formation, Proliferation, migration,
or differentiation can lead to craniofacial malformation |
|
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Term
|
Definition
From ectoderm, the lateral region of the neural fold
They then migrate into BA and give rise to all different kinds of cells (lots of tissues affected by NCC) |
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Term
| What parts of the NCC are major contributors of head and face formation? |
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Definition
| Post-midbrain and hindbrain |
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Term
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Definition
| has similar properties to mesenchyme. The origin of the ectomesenchyme is disputed whether it is like the mesenchyme, arose from mesodermic cells, or differently arose from neural crest cells[1] which are a critical group of cells that form in the cranial region during early vertebrate development. Thus, ectomesenchyme plays a critical role in the formation of the hard and soft tissues of the head and neck such as bones, muscles, teeth, and, most important, the branchial arches. |
|
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Term
| Treacher-Collins syndrome symptoms? |
|
Definition
Hypoplasia of the facial bones (hypoplasia = underdevelopment)
Hearing loss,
Underdeveloped mandible,
Downward slanting eyes,
Defect in eyelids
10-25% have cleft lip and palate
Normal intelligence |
|
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Term
| Treacher-Collins Syndrome cause? |
|
Definition
| Defect in migration and proliferation of NCC into BA1 |
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Term
| Treacher-Collins Syndrome gene classification? |
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Definition
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Term
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Definition
|
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Term
| What does the Treacher-Collins gene code for? |
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Definition
| Tcof1 codes for a protein that is involved in one of the segments of the ribosome |
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Term
| Why does a mutation in the Treacher-Collins gene make a syndrome? |
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Definition
| NCC are highly active so they need a lot of protein to migrate. Since Tcof1 codes for a segement of the ribosome, then that means that there is insufficient amounts of protein for the NCC to migrate properly. |
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Term
| What is treacle in regards to Treacher-Collins Syndrome? |
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Definition
| It is the protein that is encoded by Tcof1 |
|
|
Term
| Basis of Treacher-Collins syndrome? |
|
Definition
| NCC do not migrate or proliferate properly |
|
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Term
| Hemifacial Microsomia (HFM) characteristics? |
|
Definition
Short mandible limited to the affected side (hypoplasia)
Malocclusion with chin shifted to affected side
Microtia or small ear hearing loss
Diminished cheek soft tissues
Lateral oral cleft
Microdontia, missing teeth |
|
|
Term
| Hemifacial microsomia involves? |
|
Definition
| First and second BA derivatives |
|
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Term
| Hemifacial microsomia (HFM) is... |
|
Definition
| Sporadic, cause is unknown |
|
|
Term
| What is the second most common facial birth defect after clefts? |
|
Definition
| Hemifacial microsomia (1 in 3500 to 4500) |
|
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Term
| What is the second disruption of cross-talks between cells during the three inductive stages of normal development? |
|
Definition
| Inductive events between migrating cells and adjacent epithelium and formation of facial processes |
|
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Term
| The inductive events between migrating NCC and epithelium and formation of facial processes must....? |
|
Definition
Appear in the right place at the right time
Achieve correct size and shape
Have no obstruction to fuse |
|
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Term
|
Definition
the second BA grows like an apron to cover cervical sinus
Sometimes the remenants of cervical sinus could result in a cyst |
|
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Term
|
Definition
| Abbarent fusion of lateral lingual tubercles and tuberculum impar |
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Term
|
Definition
| remenant of down growth of thyroid from foramen cecum |
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Term
| Thyroglossal duct cyst can grow down... |
|
Definition
| along the path of the thyroglossal duct |
|
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Term
|
Definition
| lack of fusion of the processes involved in formation of the lip and the palate |
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Term
| Third craniofacial anomaly that arises from disruption of cross-talks between cells during the three inductive stages of normal development? |
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Definition
| more subtle interactions between epithelial and mesenchymal cells in the formation of specialized tissues |
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Term
| Tooth agenesis or fusion, microdontia, or macrodontia are..? |
|
Definition
| subtle epithelial-mesenchymal interactins |
|
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Term
| What causes selective tooth agenesis (mostly second premolar and third molar)? |
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Definition
|
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Term
| Presence of odontogenic homeobox code specifies? |
|
Definition
tooth position and type
tooth patterning |
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|
Term
| Most common malformation of face is..? |
|
Definition
|
|
Term
| How common is agenesis of one or more tooth (excluding third molar)? |
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Definition
|
|
Term
| Percent of craniofacial anomalies with known genetic cause is? |
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Definition
|
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Term
| Holoprosencephaly: Phenotype |
|
Definition
| Midface deficiency with variable phenotypes |
|
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Term
| Holoprosencephaly: Causative Gene |
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Definition
|
|
Term
| Holoprosencephaly: SHH is a? |
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Definition
|
|
Term
|
Definition
incomplete septation of midline structures
cyclopia with a single slit for the eye
primitive nasal structure
midface cleft |
|
|
Term
| Holoprosencephaly: Milder forms? |
|
Definition
microencephaly
single maxillary central incisor |
|
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Term
|
Definition
variety of functions in facial development
Role in patterning the neural plate (mid-line), interaction with the notocord
Proper development of a subset of NCC-derived facial bones
Mutations of SHH in humans result in Holoprosencephaly |
|
|
Term
| Apert/Crouzon syndrome: Phenotype |
|
Definition
|
|
Term
| Apert/Crouzon syndrome: Causative gene |
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Definition
|
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Term
|
Definition
| abnormal development and premature fusion of the cranial sutures and severe syndactly (in apert) |
|
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Term
| Occurance of Apert/Crouzon syndrome? |
|
Definition
1/65000
mostly new mutations |
|
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Term
| Apert/Crouzon changes the....? |
|
Definition
| growth pattern of the skull depending on the affected suture |
|
|
Term
| Distinct cranial features of Apert/Crouzon? |
|
Definition
abnormal head shape and abnormal facial features
Increased intracranial pressure--> mental retardation |
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Term
|
Definition
| Apert (fingers sticking together) |
|
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Term
| Fibroblast Growth Factors (FGFs) and FGFR: Produce |
|
Definition
|
|
Term
| Fibroblast Growth Factors (FGFs) and FGFR: establish |
|
Definition
| midbrain-hindbrain boundary |
|
|
Term
| Fibroblast Growth Factors (FGFs) and FGFR: Pharyngeal...? |
|
Definition
| Pharyngeal skeletogenesis |
|
|
Term
| Fibroblast Growth Factors (FGFs) and FGFR: Outgrowth of..? |
|
Definition
|
|
Term
| Fibroblast Growth Factors (FGFs) and FGFR: is mostly associated with..? |
|
Definition
|
|
Term
| Cleidocranial dysplasia: caused by mutation in? |
|
Definition
|
|
Term
| Cleidocranial dysplasia: Inheritance pattern? |
|
Definition
|
|
Term
| Cleidocranial dysplasia:Prevalence |
|
Definition
|
|
Term
| Cleidocranial dysplasia:Phenotype |
|
Definition
| deficient bone and supernumerary teeth |
|
|
Term
| Cleidocranial dysplasia: Type of molecule |
|
Definition
|
|
Term
| Cleidocranial dysplasia: The mutation of the....gene is normally expressed in...? |
|
Definition
| Runx2 (cbfa) transcription factor.....osteoblast progenitor cells |
|
|
Term
| Cleidocranial dysplasia: Mutation stops what from happening? |
|
Definition
| Differentiation of NCC to osteoblasts during IM ossification triggered by BMPs--> CBF1--> Osteoblastic differentiation |
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Term
| Cleidocranial dysplasia: Expressed when and necessary for what? |
|
Definition
| Expressed early in osteoblast lineage and necessary for development of mineralized tissues |
|
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Term
| Formation of Osteocytes goes by..? |
|
Definition
| NCC--> osteoblasts--> osteocytes |
|
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Term
| Cleidocranial dysplasia: Deficient body structures? |
|
Definition
| collar bone and supernumerary teeth |
|
|
Term
| Ectodermal dysplasias: Heritability |
|
Definition
| heritable conditions in which there are abnormalities of two or more ectodermal structures (AD, AR, X-linked) |
|
|
Term
Ectodermal dysplasias: Hypohidrotic ectodermal dysplasia
Heritability and prevalence |
|
Definition
X-Linked
Most common ectodermal dysplasia in humans |
|
|
Term
| Ectodermal dysplasias: Hypohidrotic ectodermal dysplasia: Mutation |
|
Definition
Eda/EdaRR (ectodysplasin) (family of TNF)
1/17,000 people worldwide |
|
|
Term
| Ectodermal dysplasias: Hypohidrotic ectodermal dysplasia: Characteristics |
|
Definition
Reduced ability to sweat (hypohidrosis)
Sparse scalp and body hair (hypotrichosis)
Absent teeth (hypodontia) or malformed teeth
Distinctive facial features: a prominent forehead,
thick lips, and a flattened bridge of the nose |
|
|
Term
| The types of anomalies induced by teratogens depends on... |
|
Definition
| the critical period of fetal development |
|
|
Term
| Critical period varies between... |
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Definition
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Term
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Definition
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Term
|
Definition
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Term
|
Definition
|
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Term
|
Definition
|
|
Term
| Critical period of Primary Palate |
|
Definition
|
|
Term
| Critical period of Secondary Palate |
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Definition
|
|
Term
| Radiation as a teratogen: Targets |
|
Definition
|
|
Term
| Radiation as a teratogen: Type of teratogen |
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Definition
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|
Term
| Radiation as a teratogen: Exposure amount as risk |
|
Definition
| 1 rad exposure during the first trimester--> an increase in the combined risk malformation and childhood cancer of 1 in 1,000 live births |
|
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Term
| Radiation as a teratogen: Later in pregnancy |
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Definition
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|
Term
| Rubella virus: can cross..? |
|
Definition
| the placental barrier and infect fetus |
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Term
| Rubella virus: Can result in |
|
Definition
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|
Term
| Rubella virus: Associated with |
|
Definition
| Growth retardation/ mental retardation/ cataracts/ deafness |
|
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Term
| Rubella virus: Risk during each trimester |
|
Definition
TM1 30-50%
TM2 22%
TM3 6-8% |
|
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Term
|
Definition
| most common viral infected transmitted to fetus (0.1-0.3% of newborns) |
|
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Term
| Human CMV: Infection through |
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Definition
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Term
|
Definition
|
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Term
| Human CMV: Characteristics |
|
Definition
| growth retardation/ blindness/ cerebral calcification and retardation/ cerebral palsy |
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Term
|
Definition
|
|
Term
| CMV relationships to the fetus? |
|
Definition
| no clear relationship between the stage of pregnancy at which the fetus is infected and risk of fetal damage |
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Term
|
Definition
|
|
Term
| Herpesvirus: What is it and how is it spread? |
|
Definition
| Blood born spread from mother to fetus during early pregnancy |
|
|
Term
| Herpesvirus: When is it spread |
|
Definition
| at birth, infection as baby passes through the birth canal |
|
|
Term
| Herpesvirus: Newborn has.... |
|
Definition
| systemic infection with CNS involvement |
|
|
Term
| Toxoplasmosis: Cases per year |
|
Definition
|
|
Term
| Toxoplasmosis: what is it? |
|
Definition
| parasite (Toxoplasma gondii) |
|
|
Term
| Toxoplasmosis: Mother infected from |
|
Definition
| contaminated meat or from animal feces (cat's feces) |
|
|
Term
| Toxoplasmosis: Mother's symptoms? |
|
Definition
| Usually shows no symptoms |
|
|
Term
| Toxoplasmosis: What percentage of woman in the US infected? |
|
Definition
|
|
Term
| Toxoplasmosis: It is associated with..? |
|
Definition
| spontaneous abortion or premature birth |
|
|
Term
|
Definition
| mental retardation/blindness (infect retina and brain) |
|
|
Term
| Syphilis: What is it and how is it spread? |
|
Definition
| blood born spread of treponema from mother to fetus |
|
|
Term
| Syphilis: Hutchinson Triad |
|
Definition
| corneal opacity, mulberry nose, mulberry molar and deadness |
|
|
Term
| Syphilis: Present in utero and at birth? |
|
Definition
|
|
Term
| Syphilis: Facial deformaties? |
|
Definition
| saddle nose/ frontal prominence |
|
|
Term
| Drugs (therapeutic) cause what percentage of congenital anomalies? |
|
Definition
|
|
Term
| About what percentage of pregnant women take one or more drugs (average 4) during first trimester? |
|
Definition
|
|
Term
| What percentage of pregnant women took no medications during their first trimester? |
|
Definition
|
|
Term
|
Definition
| lithium, Haloperidol, Thalidomide |
|
|
Term
| Thalidomide: use to be used as |
|
Definition
| anti-nausea Rx in early pregnancy |
|
|
Term
| Thalidomide: Important when.... |
|
Definition
| taken not how much was ingested for pregnant woman |
|
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Term
|
Definition
| phocomelia (shortening of limbs) and amelia |
|
|
Term
|
Definition
| Dilantin, phenobarbital, valproic acid |
|
|
Term
| Anticonvulsants: pregnant woman with epilepsy require anticonvulsant Rx |
|
Definition
|
|
Term
| Anticonvulsants: Anomalies they cause |
|
Definition
| (CL/CP/cardiac/skeletal/microcephaly/growth retardation/ abnormal genitalia +others) |
|
|
Term
| Anticonvulsants: Fetal hydantoin (Dilatin syndrome) |
|
Definition
| a specific set of anomalies resulting from Dilantin Rx during pregnancy (growth retardation/ short nose/ low nasal bridge/ CL+/- CP) |
|
|
Term
| Anticoagulants (Warfarin): Who takes it? |
|
Definition
| woman who have prosthetic heart valves |
|
|
Term
|
Definition
| nasal hypoplasia/ hand and eye malformations/ mental retardation |
|
|
Term
|
Definition
|
|
Term
| Female sex hormones: DES is given for... |
|
Definition
| woman who have threatened abortion caused by adenocarcinoma of the vagina in female offspring |
|
|
Term
| Teratogenic effects from oral contraceptives? |
|
Definition
|
|
Term
| Vitamin A (accutane) (retinoic Acid): Use |
|
Definition
|
|
Term
| Vitamin A (accutane) (retinoic Acid): Anomalies |
|
Definition
| microcephaly often accompanied by hydrocephaly/ blindness/ facial asymmetry resulting from cranial nerve paralysis/ CL+CP/ small external ears/ CNS anomalies/ neural tube defects |
|
|
Term
| Are topical retinoids advised during pregnancy? |
|
Definition
|
|
Term
| Antibiotics: Some are called |
|
Definition
| Tetracylcin and aminoglycosides |
|
|
Term
| Antibiotics:Tetacyclin Causes in fetus |
|
Definition
| Tetracyclines cause fetal tooth discoloration and inhibition of bone growth if used in the second and third trimesters |
|
|
Term
| Antibiotics: Aminoglycosides |
|
Definition
| carry a small risk of fetal ototoxicity |
|
|
Term
| Fetal Alcohol Syndrome: Symptoms |
|
Definition
Pre and postnatal growth retardation
microcephaly
small eyes
severe mental retardation
micrognathia
CL and CP |
|
|
Term
| Alcohol: Risk proportional to |
|
Definition
| amount of alcohol ingested |
|
|
Term
|
Definition
risk >3 ounces daily(> 6 cocktails) = 30-45%
risk 1-2 ounces daily = 10% |
|
|
Term
|
Definition
|
|
Term
| Alcohol: Crosses the...to damage the |
|
Definition
| placental barrier--> damage to the CNS |
|
|
Term
| Effect of Hydrocortisone on orofacial development |
|
Definition
Lateral Nasal process reduced in size (LNP)
Fusion between process is affected (CL) |
|
|
Term
| Most common craniofacial anomalies? |
|
Definition
|
|
Term
| What percent of all anomalies are Orofacial cleftings? |
|
Definition
|
|
Term
| Orofacial clefting: Homogenous or heterogenous? |
|
Definition
|
|
Term
| Orofacial clefting: Inheritance and syndromic nature |
|
Definition
polygenic (60%)
Non-syndromic or can be syndromic
Environmental factors are 40%
Mechanical factors in the uterus |
|
|
Term
| Formation of Primary palate: When |
|
Definition
|
|
Term
| Formation of Primary Palate: Involves |
|
Definition
| Lip, alveolar ridge, premaxilla |
|
|
Term
| Formation of Secondary Palate: When |
|
Definition
|
|
Term
| Formation of Secondary Palate: Involves |
|
Definition
|
|
Term
| Formation of Facial Processes: MNP |
|
Definition
| Nose, Philtrum, and primary palate |
|
|
Term
| Formation of Facial Processes: LNP |
|
Definition
|
|
Term
| Formation of Facial Processes: Maxillary |
|
Definition
| cheeks and lateral portions of lip and secondary palate |
|
|
Term
| Formation of Facial Processes: Mandibular |
|
Definition
| mandible, lower lip, and chin |
|
|
Term
| The achieve unformity the facial processes are required to: |
|
Definition
appear in the right place at the right time
achieve correct shape and size
have no obstruction to fusion |
|
|
Term
|
Definition
| an abnormal opening or fissure in a structure that is normally closed |
|
|
Term
| Non syndromic percentage vs syndromic |
|
Definition
|
|
Term
| 1 out of...births in the US have CL or CP |
|
Definition
|
|
Term
| There are over....different syndromes which include CL/CP as one feature |
|
Definition
|
|
Term
| Potential Developmental failures resulting in cleft palate: Give me five |
|
Definition
Structural abnormalities within the shelves
Shelves are too narrow
A reduction in shelf force
Interfere with the displacement of tongue
Disproportionate growth of head
failure of the epithelia of the shelves to fuse
Insufficient mesodermal penetration |
|
|
Term
| Difficulties associated with CL/CP |
|
Definition
Failure to gain weight
Feeding problems: Flow of milk through nasal passages during feeding
Misaligned teeth due to defects of the alveolar ridge
Speech difficulties
Recurrent ear infections |
|
|
Term
|
Definition
Overt clefting is a complete opening of the fissure
submucosal clefts, the structure on oral surface are intact but clefts are present in underlying structures of palate like bone and muscle) and visible during intraoral or intranasal exam. |
|
|
Term
| Clefts of Primary Palate: Occurs in |
|
Definition
|
|
Term
| Clefts of Primary Palate: More prevalent in |
|
Definition
|
|
Term
| Clefts of Primary Palate: Candidate genes are |
|
Definition
| TGFalpha, EGFR, RARalpha, MSX-1 |
|
|
Term
| Clefts of Primary Palate: Classifications |
|
Definition
|
|
Term
| Clefts of Primary Palate: Side |
|
Definition
| Bilateral (20%) or unilateral (80%) |
|
|
Term
| Clefts of Primary Palate: Associated with |
|
Definition
| cleft of the primary palate (70-85%) |
|
|
Term
| Clefts of Primary Palate: Might.. |
|
Definition
| extend to the secondary palate |
|
|
Term
| Closure of lips and primary palate is dependent on |
|
Definition
| merging of the medial nasal and maxillary process and completed by the end of week 6 |
|
|
Term
| Clefts of the Secondary Palate: Consists of |
|
Definition
|
|
Term
| Clefts of the Secondary Palate: Occurs |
|
Definition
|
|
Term
| Clefts of the Secondary Palate: More prevalent in |
|
Definition
| females, less genetic than environmental |
|
|
Term
| Clefts of the Secondary Palate: Candidate genes |
|
Definition
|
|
Term
| Clefts of the Secondary Palate: Complete/ Incomplete, where, other types |
|
Definition
| extends from the incisive foramen through uvula (bifid uvula or bifid uvula or palatal fissure (hole in palate) |
|
|
Term
| Clefts of the Secondary Palate: Bilateral/ Unilateral |
|
Definition
Vomer is unattached and can be seen in midline
Vomer is attached to one side of palate (UL CL/P) |
|
|
Term
| Clefts of Secondary palate AKA |
|
Definition
|
|
Term
| Isolated cleft palate interferes with |
|
Definition
sucking, blowing, and swallowing
permits passage of food from oral cavity into nasal cavity and lungs |
|
|
Term
| Candidate genes for non-syndromatic clefting |
|
Definition
| Candidate genes Lhx8, TGF-b3, EGFR, MsxI, Dlx2, TGF-a |
|
|
Term
| TGF-b and EGFR are expressed by |
|
Definition
| epithelial cells and involved in epithelia cell growth/apoptosis the palatal shelves are able to elevate and contact each other but fail to fuse |
|
|
Term
| Etiology of Orofacial clefts |
|
Definition
| polygenic/multifactorial inheritance (60% familial) mutations in master regulatory genes (homeobox genes and signaling molecules) or chromosomal aberration (D, E and G trisomy) |
|
|
