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23 Cards in this Set
- Front
- Back
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Treachor Collins Syndrome
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Tcof1- mutation stunts ncc proliferation/migration/generation,
low ears, eye lids hypoplastic mandible, cleft palate, deficient mandible. |
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Van der Woude
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IRF-6 Aut. dominant
cleft lip/palate, hypdontia |
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Pierre Robin
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Mechanical force-->tongue displacement-->alters mandibular development-->Posterior cleft palate
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Hemifacial Microsomia
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disruption, 1/2 face shorter/deficient
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Cornelia de Lange
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CdL1(NIPBL) CdL2(X-linked), CdL3(chromosome 10)
Small head, upturned nose, thick eyebrows, thin downturned lips, long philtrum |
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Cleidocranial dysplasia
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cfba1, RUNX2, msx1, runt, EFRB1
failure of clavicles to from presence of supernumerary teeth |
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Osteopetrosis
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insufficient osteoblasts, old bone not resorbed
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Apert's
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FGFR2
Crainosynostosis. Low ears, underdeveloped nasion, syndactyl, club foot |
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Crouzon Syndrome
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Mut. FGFR2
craniosynsostosis, soft skull, microstomia, maxillary arch is narrow and retruded |
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Non Syndromic craniosynosdosis
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FGFR3
premature fusion calvarial bones |
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Positional plagiocephaly
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deformation
of head because of infant laying on it back |
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Amniotic bands
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Disruption
via fiberous bands from amniotic sac are disrupted and cause constrcition |
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frontnasal Dysplasia
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EFNB1
median cleft face syndrome, tip of nose missing or nose may be divide into 2 parts |
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Holoprosencephaly
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SHH loss of FXN
forebrain fails to develop into 2 hemispheres, cyclopioa |
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Cornelia de lange syndrome
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CdL1 CdL2 CdL3
small head, thick brows, short upturned nose, long philtrum, low set ears |
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Non=syndromic celft lip/palate
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Loss of Fxn MSX1
toothagensis, cleft lip/palate |
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FGFR3
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Regulate Apoptosis (TK receptor)
skeletogensis of long bones/calvarial sutures Syndromes: Crouzan(narrow/retruded maxilla, soft skull, farapart eyes small mouth, low ears) Aperts(weebbed fingers, low ears) |
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TWIST
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Transcription Factors(helix-loop-helix)
neural crest cells Loss of fxn--> seathre Chotzen syndrom(craniosynostosis) |
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EFNB1
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Regulate Cell-Cell interaction
causes repulsion at suture lines causes: craniofrontal dysplasia, frontonasal dysplasia, asymmetry, craniosynsositosi) |
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MSX2
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TF in Ncc
Alters Differentiaion increase fxn-->craniosynotosis |
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RunX2
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TF in NCC Represses osteoblast differentiation
increase fxn: craniosynostosis |
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SHH
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Growth Factor of pharyngeal arch
Loss of Fxn: holoproscencephaly |
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MSX1
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TF in NCC
Alters epithelial-mesenchyman interactions Loss Fxn: non syndromic cleft lip/palate |
