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151 Cards in this Set
- Front
- Back
Abnormal vertebral regionalization:
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-Kioppel-Fiel anomaly
Sacralized/lumbarized vertebrae |
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Kioppel Fiel
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fusion of cervical vertebrae
short neck low nuchal hair line |
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sacralized/lumbarized vertebrae
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change in TYPE not NUMBER
|
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Assymetry of vertebrae:
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-scoliosis
-lordosis -kyphosis |
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Failure of Fusion of neural arches of vertebrae:
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Dysraphism
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Types of dysraphism
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rachiscisis - many open
spina bifida - one or a few |
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mildest spina bifida
worst spina bifida |
mildest = occulta
orst = aparta - spinal cord exposed - amniotic fluid |
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Formation defects of vertebrae:
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hemivertebrae
wedge-shaped unsegmented bars |
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Rib/spine defects
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-accessory/fused (lumbar in males most common)
-Malformed sternum/costal cartilage -Forked ribs |
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Dysraphic skull frmation:
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Acrania
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Suture defects 4
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Craniosynostosis
Craniofacial dysostosis Cloverleaf skull Aperts |
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Craniosynostosis
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sutures close prematurely
defect of FGF receptors 1/2 |
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Craniofacial dysostosis
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all sutures involved
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cloverleaf skull
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85% of all cases have additional abnormalities
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Aperts
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large calvaria, acrocephalosyndactyly
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Microcephaly
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-Genetic and environmental
-Normal sz face, small calvaria -brain defects |
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Craniovertebral junction
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Bone fusion or loose ligaments
short neck, low nuchal hairline, restricted head/neck movement |
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pectoral girdle abnormalities
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-cleidocranial dysplasia
-sprengel anomaly |
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Cleidocranial dysplasia
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Hypoplasia, aplasia of clavicles
large head, small face long/narrow neck shoulders droop Delayed fontanelle closure Incompete pubic development |
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Sprengel anomaly
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Scapula at C4-T2
Hypoplastic Usually left, maybe bilateral |
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Chondrodystrophias
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Group of disorders characterized by disproportionate growth
-no mental feature |
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Achondroplasia
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interference with epiphyseal plate development
-Short extremities -Short stature -Normal trunk -Big cranium -Small face Normal intelligence |
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Mutation causing achondroplasia:
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FGF receptor 3 gene
|
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Marfan's syndrome
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Defective fibrillin production
Autosomal dominant long digits, aortic aneurysm eye/spine abnormalities joint hypermobility |
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Mucopolysaccharidoses
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Lysosomal storage disorder
autosomal RECESSIVE deterioration w/ face and skull distortion |
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Osteogenesis imperfecta
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multiple fractures
Type I collagen defect |
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Endocrine disorders of skeletal development
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-Hyperpituitarism
-Hypothyroidism |
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Hyperpituitarism
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OVerproduction of GH
-Gigantism (prepuberty) -Acromegaly (postpuberty) |
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Hypothyroidism
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MENTAL
skeleta/ear anomalies -bone age is younger than should be |
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Muscular malformations - absent
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-Absence of sternocostal head of pec major - most common to miss
-Prune belly syndrome - urinary bladder defects |
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Congenital torticollis
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wryneck
-Fixed rotation/tilt of head -Trauma during birth |
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Family of genetic diseases exhibiting progressive deterioration of skeletal muscle but w/o CNS and peripheral nervous pathology:
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muscular dystrophy
|
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most common type of MD:
-inheritance -abnormality |
duchennes
-X-linked recessive -Muscles lack dystrophin - susceptible to dmg when stressed |
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Deaths caused by Congenital nervous system malformities:
-Fetal -Infant |
Fetal = 75%
Infant = 40% |
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% of all abnormalities:
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10
|
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% of affected embryos aborted during wks 4-8:
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90
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Neural tube defects - Dysraphic errors result from
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Error in primary neurulation
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When primary neurulation occurs:
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weeks 3-4
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Characteristics of dysraphic errors:
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-Faulty NT closure
-Dorsal location -Midline defects |
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Supplment that helps prevent dysraphic errors:
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-maternal folic acid
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Most severe dysraphic error in neural tube devo:
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MeroAnencephaly
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Meroanencephaly - 3 symptoms
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-Calvaria missing
-Vascular forebrain/midbrain tissue mass -High AFP levels diagnostic |
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Encephalomeningocoele
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skull defect
brain/meninges herniated |
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cranial meningocoele
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only meninges herniated - filled with CSF
|
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cranium bifidum
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Skull defect
May/may not be brain or meningeal involvement. |
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Myeloschesis
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Spina bifida aperta
Neural plate open to surface dorsally (unfused vertebral arches) |
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Meningomyelocele
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90% SB Cystica
Cystic swelling Spinal cord/meninges herniated usually at lumbar level |
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Meningocele
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SB Cystica 10%
Only meninges herniated |
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Spina Bifida occulta
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Strictly Verteral
-Hair tuft/cyst at defect site -may confuse w/ diastematomyelia -10% of adult population |
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diastematomyelia
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bone spur that teathers spinal cord and prevents ascension
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Error of secondary neurulation
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Myelodysplasia
|
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Myelodysplasia
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abnormal formation of caudal part of spinal cord
-maybe covered w/ pigmented skin |
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Holoprosencephaly
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-Midline facial/CNS defects
-Primarily affects forebrain -50% assoc w/ chromosomal defect -Alcohol ingestion |
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Errors of Neuron Proliferation
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-Megalencephaly - large head
-Microencephaly - small head |
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Erros of Neuron Migration
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-Lissencephaly
-Micro/macrogyria -Agenesis of corpus callosum -Hydrocephalus -Arnold Chiari |
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Lissencephaly
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Smooth brain
-Poor responsive in feeding -Seizures -Decr. muscle tone -Devo delay, microcephaly |
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Microgyria
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Small gyri - severe devo delays
-Seizures -Hypotonia |
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Macrogyria
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Large gyri
-Same sx as microgyria |
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Agenesis of corpus callosum
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may be asymptomatic
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Hydrocephalus
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increased CSF
|
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noncommunicating hydrocephaly
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obstruction in brain - usually at cerebral aqueduct
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communicating hydrocephaly
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interference w/ resorption
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Arnold-Chiari malformation
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Caudal displacement and herniation of ventral cerebellar structures
-May be defect in skull base |
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Duplicated 1st cleft
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blind pouch (fistula) runs from ext meatus to cheek
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Branchial/cervical cyst
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remnant of embryological cervical sinus
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Cervical fistula involving 2nd cleft
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tracks to tonsilar fossa (thru carotid bifurcation
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Cervical fistula involving 3rd cleft
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tracks to superior larynx - pierces thyrohyoid
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Persistent cervical sinus
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opens onto lateral neck anterior to sternocleidomastoid
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Abnormal devo of TONGUE
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-ankyloglossia
-macroglossia /microglossia |
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Cause of ankyloglossia:
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failure of apoptosis to free tongue from attachment to mouth floor
|
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ankyloglossia is aka
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tongue tied
|
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macroglossia/microglossia are often associated with:
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downs syndrome
hyperthyroidism |
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Dacryostenosis
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failure of canalization of nasolacrimal duct
|
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Choanal atresia
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absence of one or both primitive choanae due to obstruction
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What causes choanal atresia?
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Failure of oronasal membrane to rupture by 38 days
|
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2 types of abnormal ethmoid bone formation
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-Hypotelorism
-Hypertelorism |
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Hypotelorism
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orbits too close together
|
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hypertelorism
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orbits too far apart
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Cleft lip - uni/bilateral
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Failure of fusion of MaxP & MNP
More in Males 2:1 |
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Oblique facial cleft - oroauricular type
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Rare
Cleft goes from lateral mouth toward ear (auricle) Wide mouth - macrostomia |
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Oblique facial cleft - oroorbital type
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cleft goes from mouth to orbit
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Median cleft lip
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hare lip (rabbit)
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Cleft palates - morphogenic factors:
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-Abnormal tongue devo; it fails to get out of way of palate elevation and fusion
-Cysts - formed from epithelial remnants from left over palate fusion - rupture and reopen palate. -Impedment of shelf force |
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Drugs that impede shelf force:
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Glucocorticoids - interfere with palatal shelf elevation.
|
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Another name for Mandibulofacial Dystosis:
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Treacher Collins syndrome
|
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Features of mandibulofacial dystosis:
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-Clefts of arch 1 structures
-Hypoplastic Zygomatic and mandible bones -Autosomal dominant |
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Maxillary hypoplasia is aka
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Crouzon
|
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Features of Maxillary hypoplasia
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-Hypoplastic midface
-Hypertelorism -Coronal suture synostosis -Malocclusion |
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Mutation causing Crouzon:
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FgF receptor 2 on Chr' 10
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Mandibular hypoplasia features:
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-Small jaw
-Glossoptosis (fwd displacement) -Difficulty of breathing -Cleft palate |
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CHARGE
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Coloboma
Heart defects Atresia (choanal) Retardation Genital hypoplasia Ear anomalies |
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2 neural tube defects associated with first arch syndromes:
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-Holoprosencephaly
-Aperts syndrome |
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Drug that induces facial dysplasia:
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Accutane
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Lateral facial dysplasia features:
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-Small mouth
-Unilateral facial hypoplasia -Microtia (small ear) -Hemivertebrae |
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Agenesis of pharyngeal pouch 1
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failure of one or more salivary glands to develop
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Ranula
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enlargement of salivary glands due to nonpatent duct
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Thyroid agenesis
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Cretinism
Pituitary dwarf Mental deficiency |
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Persistant thyroglossal duct
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-Cysts
-Fistulas -Lingual thyroid |
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Thyroid Cysts will be located:
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anywhere along path of thyroid primordium
-mobile, noncommunic w/ skin |
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Thyroid fistula
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rupture of thyroid cyst
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Lingual thyroid
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In body of tongue at foramen cecum
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Absence of 3/4th pouches:
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DiGeorge syndrome
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Features of DiGeorge:
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-Heart defects
-Minor craniofacial defects -Hypoplastic mandible -Cleft palate -Hypotelorism -Hypoparathyroidism |
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Craniopharyngeoma
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Failure of Rathke's pouch to reach posterior portion of pituitary from neural tube
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Anomalies of early eye devo:
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-Anophthalmia
-Cyclopia to synophthalmia |
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Anophthalmia
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absence of ocular structures
|
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More common form of anophthalmia
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microphthalmia - small eye
(total absence = rare) |
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Inheritence if isolated
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autosomal recessive
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primary anophthalmia:
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Restricted to eye
rare surrounding structures develop normally |
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secondary anophthalmia:
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secondary to FOREBRAIN defect
HOLOPROSENCEPHALY |
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cyclopia
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1 eye 1 orbit
multifacial anomalies |
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synophthalmia
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2 eyes 1 orbit
2 eyes 2 orbits 1 nostril |
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Eye structure in
-cyclopia -synophthalmia |
cyclopia: normal or deformed eye
synophth: varied degree of fusion of eyes or close together |
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sex cyclopia is more common in
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females
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Condition associated w/ cyclopia or synophthalmia
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HOLOPROSENCEPHALY
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Congenital cataract
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clouding of the eye
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Causes of congenital cataracts
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Too much PTH - Intrf w/ eye devo
Rubella Inherited |
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Congenital glaucoma
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increased ocular fluid pressure
|
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Causes of congenital glaucoma
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-abnorm devo of fluid draining spacs in eye (junction of sclera and cornea)
|
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Persistent pupillary membrane
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persistent hyaloid vessels in front of lens
|
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When hyaloid vessels should regress
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4rd trimester
|
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Papillary atresia
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persistant pupillary membrane covers pupil
|
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4 types of abnormal eye devo
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-Coloboma
-Congenital ptosis -Micropthalmos -Cryptophtalmos |
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Coloboma
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mutilation - rare
-notch in 1+ ocular structures -incomplete choroid fissure closure |
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Congenital ptosis of eyelid
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Common
Autosomal dominant Fail to form Levator Palpebrae |
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What can cause acquired congenital ptosis
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oculomotor nerve injury
|
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Micropthalmos
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rare
decreased eyeball volume ranges from mild to extreme |
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Extreme form of microphthalmos:
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Anopthalmia - only have eye remnants
|
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Cutoff point for whether function will be abnormal in microphthalmos:
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Before 4 weeks - abnormal
After 8 weeks - normal |
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Crypopthalmos
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hidden eye - eyelids absent and eyeball is hidden and malformed
|
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Anotia - microtia
-sex more common in -side more often on |
Range of external ear anomalies
-more common in males -Right ear more common |
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Association with anotia/microtia
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Fragile X syndrome
Oligohydramnios via kidney abn |
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Auricular tags
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appendages along auricle line of speriolateral migration
|
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Auricular tags associated with:
|
not associated w/ other anomalies
|
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Auricular sinus
-assoc w/ |
-Anterior/preauricular to ear
-assoc with kidney anomalies and deafness |
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Otocephaly
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Failure of auricle to move superolaterally
-very rare |
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Sx associated with Otocephaly:
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-Severe micrognathia (small mandible)
-Respiratory problems - cause of death -CNS deformities -Persistent oral membrane |
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Mandibulofacial dysostosis - 1st arch abnormalities assoc w/ ext ear abnormalities
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-Low set ears
-Deafness -In addition to facial anomalies |
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Meatal Atresia/hypoplasia
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Absence of patent external auditory meatus
-osseous portion usually involved -bilateral |
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Anomalies of middle ear
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-congenital fixn of stapes
-ossicle defects -choleosteatoma |
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Congenital fixation of Stapes
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-Progressive hearing loss
-Autosomal dominant -Particularly foot of stapes |
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Ossicle defects
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ossicles can be solitary bone
-usually bilateral |
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Choleosteatoma
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Benign growth of endoderm origin
-In the tympanic cavity medial to ear drum |
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Anomaly of Iner ear
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Vestibulocochlear Dysplasia
|
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Vestibulocochlear Dysplasia
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-Flattened cochlea
-Decr. # of turns -Underdevolpd vestibular structures -Osseous/membranous structures involved too |
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Largest cause of hearing loss:
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Congenital
|
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Age of diagnosis for congenital hearing loss:
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2-3 yrs
|
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3 types of cong hearing loss:
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-Conduction
-Sensorineural -Mixed |
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Conduction cong hearing loss:
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External and/or middle ear problems - sound not transmitted to cochlea
|
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Sensorineural cong hearing loss:
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Inner ear and/or nerve problems
-no signal generated -thus no transmission to brain |
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Causes of cong hearing loss:
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-Heredity (30-50%)
-Prenatal infxn (rubella, CMV, toxoplasmosis, syphilis, herpes) -Environmental (thaladomine, acutane)Hypothyroid -Unknown 30% |