Syndromes.csv

Card Set Information

Author:
ultrajan
ID:
292214
Filename:
Syndromes.csv
Updated:
2014-12-29 14:34:28
Tags:
syndromy
Folders:
medicína
Description:
některé syndromy
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  1. "Van der Wodue sy

    "
    • "Lip pits or lip mounds
    • Hypodontia
    • chromosome 1

    "
  2. "Robin sequence
    "
    • "Micrognathia
    • glossoptosis
    • cleft palate
    • bird like facies

    "
  3. "Stickler syndrome

    "
    • "Myopia
    • retinal detachment
    • progressive SN HL
    • cleft
    • flate midface
    • prominent eyes
    • depressed nasal bridge
    • epicanthal folds
    • long philtrum
    • mandibular hypoplasia
    • chromosome 12
    • "
  4. "VCFS (velo-cardio- facial sy)
    genetika"
    "mikrodelece 22q11"
  5. "Treacher Collins sy

    "
    • "downward slanting palpebral fissures
    • depressed cheekbones
    • deformed auricles
    • mandibular hypoplasia
    • lower lid coloboma
    • absence of lower lashes
    • hearing loss
    • visual loss
    • "
  6. "Nager syndrome


    "
    "facial deformities
    upper limb deformities always present
    hypoplasia of zygomas
    downward slanting palpebral fissures
    problems with jaw opening
    "
  7. "Aperts sy"
    "premature closure of coronal suture
    deformities of skull
  8. "Crouzon

    "
    "synostosis of coronal suture
    shortened anterior to posterior
  9. "Pfeiffer sy

    "
    • "cranio facial features similar to Apert
    • depressed nasal bridge
    • prominent dome
    • maxilalry hypoplasia
    • dental crowding
    • chromosome 10
    • normal IQ
    • "
  10. "Beckwith-Weidemann

    "
    "omphslokéle (intestines outside of the body)
    large mandible
    macroglossia
    macrosomia
    ear creasinin 
    chromosome 11
    "
  11. "CHARGE assotiaton"
    "coloboma
    heart disease
    choanal atresia
    retarded growth
    genital anomalies
    ear anomalies"
  12. "what chromosome is responsible for CHARGE?"
    "8q"
  13. "Moebius sy
    "
    "lack of facial expression and mbility
    syndactyly
    micrognatihia
    microglossia
    dysarthria 
    "
  14. "when is the lip closed?

    When is the palate closed?"
    "lip: first 3 months of life

    Palate: between 9 to 10 months and 14 to 16 months of life"
  15. "VCFS velo-cardio- facial syndrome
    synonyma"
    "CATCH
    Di George
    Sprintzenùv syndrom"
  16. "CATCH akronymum"
    "


    C
    Cardiac defects


    A
    Abnormal facies


    T
    Thymic hypoplasia


    C
    Cleft palate


    H
    Hypocalcemia


    "
  17. "PHACE syndrome"
    "

      • Posterior fossa abnormalities

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