GDA Craniofacial.txt

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emm64
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120881
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GDA Craniofacial.txt
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2011-12-05 02:01:47
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GDA Craniofacial
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GDA Craniofacial
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  1. holopresencephaly
    • Trisomy 13 or Patau’s Syndrome
    • deformation of brain
  2. microphthalmia
    • Trisomy 13 or Patau’s Syndrome
    • small eyes
  3. Trisomy 13
    • Incidence 1 in 20,000 to 25,000 births
    • 50% die in first month
    • Associated with advanced maternal age
    • 20% due to unbalanced translocation
    • Holoprosencephaly
    • Cleft lip and/or palate
    • Cutis aplasia congenita
    • Congenital heart defects
    • Postaxial polydactyly
    • Growth retardation
    • Severe mental retardation
    • Cleft lip and palate
    • Microphthalmia
    • Iris coloboma
    • Postaxial polydactyly
    • Congenital heart defects
    • Urogenital defects
    • Rockerbottom feet
    • CNS malformations
    • Holoprosencephaly
    • Encepholoceles
  4. cutis aplasia congenita
    • Trisomy 13
    • abnormality on the back of the head
  5. Trisomy 18, Edward's Syndrome
    • -much overlap btw trisomy 13 and 18; this is why we do karyotype or similar testing
    • -all trisomies related to increased maternal age, pts will be very thin (difficulty gaining weight)
    • -hypotonicity when baby (“floppy”), but become stiff with advancing age (hypertonicity)
    • -ear helix is malformed, small lower jaw, characteristic clenching of the hands, rocker bottom feet (back of heel of foot is like part of a rocking chair)
    • -critical region- must be present in triplicate in order to have trisomy 18
  6. Trisomy 21
    • Most common chromosome disorder
    • Most common genetic cause of moderate mental retardation
    • 1 in 800 livebirths
    • Associated with Maternal age (>35y)
    • 1/1250 for 15-19 year old Mom
    • 1/100 for 40 year old Mom
  7. Meiotic nondisjunction
    • Trisomy 21
    • 90% maternal – meiosis I
    • 10% paternal meiosis II
  8. Trisomy 21 Syndromes
    • Hypotonia
    • Short stature
    • Brachycephaly
    • Congenital heart disease
    • Duodenal atresia
    • Tracheoesophageal fistula
    • 15- fold increase for leukemia
  9. Van der Woude
    • IRF 6 mutations
    • Autosomal dominant (risk in family is %50)
    • Cleft lip, cleft palate, lower lip pits
  10. Popliteal Pterygium Syndrome
    -pterygiums (webbing) in area of knee or elbow- mobility affected; if surgery performed, must be careful bc arteries, veins, & nerves can be carried in farthest part of webbing
  11. IRF6 Gene
    • (1q32-41) (AD mutation)
    • Van der Woude (lip pit/clefting syndrome)
    • Popliteal pterygium / lip pit syndrome
    • Gene causes 6% of non-syndromic cleft lip / cleft palate
  12. Teratogens and Clefting
    • Ethyl alcohol
    • Diphenylhydantoin
    • Trimethadione
    • Retinoids (for acne)
    • Aminopterin and methotrexate
    • Hyperthermia
    • Cigarette smoking + TGF alpha
  13. Prevention of CL/P
    • Folic acid
    • Avoidance of tobacco smoke
    • At risk families
    • Preconception folic acid
    • High level ultrasound
    • Genetic counseling
  14. EEC
    • Ectrodactyly-ectodermal dysplasia-cleft syndrome
    • Also known as split hand-split foot-ectodermal dysplasia-cleft syndrome
    • Ectodermal dysplasia, Facial clefting, ectrodactyly
    • Selective tooth agenesis, microdontia, caries
    • Hearing loss, small ears, malformed auricles
    • Autosomal dominant mutations in the tumor protein p63 gene (TP63)
    • ectrodactyly
    • claw-like hand, 2nd/3rd digits may be missing
    • ectodermal dysplasia
    • hair, teeth, nails, sweat glands may all be abnormal
  15. ectrodactyly
    claw-like hand, 2nd/3rd digits may be missing
  16. ectodermal dysplasia
    hair, teeth, nails, sweat glands may all be abnormal
  17. 22q11 Deletion Syndrome
    • Velocardiofacial (VCF) syndrome, DiGeorge Syndrome
    • Conotruncal heart defects
    • 1 in 2,000 – 4,000
    • Hypocalcemia – neonatal
    • Developmental delay
    • Psychiatric disorders
    • Cleft lip and/or palate
    • Thymic dysplasia – low T-cell numbers
  18. micrognathia
    • small jaw;
    • this causes breathing difficulties (tracheotomy may be needed
  19. Pierre Robin SEQUENCE
    • NOT SYNDROME
    • Mandibular hypoplasia
    • Tongue falls back and prevents normal developmental
    • Closure of palate – cleft palate
    • Neonatal upper airway obstruction – glossoptosis
    • Primary defect – mandibular hypoplasia
  20. Treacher Collins Syndrome
    • most common facial feature- lower eyelid looks droopy, as if there isn’t enough elasticity; there are also no eyelashes on lower eyelid; also cheek bones are small; down-slanting palpebral fissures (eyes slant downward)
    • Mandibulofacial dysostosis
    • 1 in 10,000 births
    • Autosomal dominant with variable expressivity
    • TCOF 1 gene on 5q32-33.1
    • Protein treacle important in embryonic development – first brachial arch.
    • Important in neural crest cell formation and proliferation
    • Bilateral and symmetrical
    • Hypoplastic mandible
    • Hypoplastic supraorbital rims
    • Hypoplastic zygoma
    • Coloboma of eyelids
    • Downward slanting eyes
    • Micrognathia
    • Cleft palate
    • Malformed or absent ears - microtia
    • Hearing loss
    • Abnormal lower eyelids – eyelid colobomas
    • Malar hypoplasia
  21. Microtia - Hemifacial Microsomia - OAV
    • ranges from microtia (abnormality of external ear) to Goldenhar syndrome
    • -hemifacial microsomia- where one side of face is smaller than other side; also may have facial nerve palsy, which is important to check for
    • -OAV: aka Goldenhar syndrome
    • epibulbar dermoids- extra tissue on corner of eye
    • hemivertebrae- puts pts at risk for sculiosis
    • genetic defect hasn’t been established yet, although looked for
    • may be bilateral or asymmetric (for ex one or both eyes may not be able to be closed completely- can tell parents to use eye drops when sleeping)
  22. Microtia
    • -vocab: stenotic- narrow; atretic- blind pouch
    • -Grade 1 is milder (upper helix not completely formed), 2 is more severe (some tissue, may have auricular skin tag),
  23. Craniosynostosis Syndromes
    • Distinguish by looking at extremities
    • Apert syndrome - 2-3 bilateral hand and foot syndactyly, mental retardation
    • Crouzon syndrome – normal hands and feet
    • Pfeiffer syndrome – abnormal thumbs and big toes (broad and medially deviated), + brachydactyly
    • Muenke syndrome – normal thumbs, + broad toes, + carpal or tarsal fusion
    • Crouzon syndrome with acanthosis nigricans (AN) – no abnormalities in hands or feet
    • Jackson Weiss syndrome – variable hands, broad medially deviated great toes, abnormal tarsals
    • Beare-Stevenson syndrome - no abnormalities in hands or feet
    • FGFR2 Isolated coronal synostosis - no abnormalities in hands or feet
  24. FGFR2
    • involved in craniosynostosis syndromes
    • -mutations tend to be in extracellular domain of protein (which binds ligand)
  25. Holoprosencephaly (HPE)
    • Ventral forebrain maldevelopment
    • Facial dysmorphism
    • Hypotelorism
    • Developmental delay
    • 1 in 10,000-1 in 20,000 births
    • Most common human congenital brain defect
    • Male:female ratio 1:2
    • Chromosomal causes
    • Trisomy 13, 18
    • Environmental/teratogens
    • Maternal diabetes
    • Single gene defects
    • Sonic Hedge Hog (SHH)
    • TGIF, ZIC2, SIX3, PTCH
  26. Sonic Hedge Hog
    • SHH
    • First gene discovered to cause holoprosencephaly
    • Autosomal dominant with variable expressivity
    • Secreted signaling protein required for developmental patterning in mammals and insects
    • Loss of function mutations
  27. Degrees of Holoprosencephaly
    • Mild
    • Single central incisor
    • Moderate
    • Hypotelorism
    • Cleft lip and palate
    • Severe
    • cyclopia
    • Alobar
    • Most severe form
    • Brain fails to separate into separate hemispheres
    • One ventricle
    • Semilobar
    • Intermediate form
    • Brain hemispheres have some separation
    • Lobar
    • Least severe
    • Considerable separation of hemispheres
  28. Encephalocele
    • Cranium bifidum
    • Cephalocele
    • Types
    • Occitipal – 75%
    • Parietal
    • Anterior - (Frontonasal) increased risk in southeast Asia
    • Cerebral “blowout”
    • Point of least resistance
    • Underlying cranium bifidum
    • High frequency of hydrocephalus
  29. Encephalocele Syndromes
    • amniotic bands- can form anywhere (see picture); amniotic layer can be sticky, and attach to part of the fetus, amputating parts of the body (fingers, toes)
    • Chromosomal
    • Trisomy 13
    • Trisomy 18
    • Monogenic
    • Meckel syndrome
    • Walker-Warburg syndrome
    • Disruptive
    • Maternal hyperthermia
    • Warfarin embryopathy
    • Amniotic bands
    • Associations
    • Frontonasal dysplasia
    • Oculoauricular vertebral syndrome (OAV)

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