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   What is Down syndrome?   What are the chromosome basics of Down syndrome?   How do the extra genes lead to Down synd...
•   “A genetic condition involving the    presence of a 21st chromosome’’
Types of Down Syndrome   1. An extra (21)    chromosome-this type of    case is called trisomy 21   2. Translocation, in...
 The  only well known  risk factor for  conceiving a child  with Down syndrome  is advanced  maternal  age.
 Mothers age at conception  Risk of Down syndrome 25 years 1 in 1,250   30 years 1 in 1,000   35 years 1 in 400   40 ...
 alpha-fetoprotein  (AFP)screening test. the nuchal  translucencytest.  Ultra   sound screens.
 It   is recognized from the characteristic phenotypic features. Confirmed   by Karyotype.
hypothyroidism     Congenital       Heart                                                       leukemia      Defects     ...
1. Growth – Measurements should be plotted on the   appropriate growth chart for children with DS. This will help in prev...
4. Eye disorders - An eye exam should be   performed in the newborn period or at least   before 6 months of age to detect ...
 7.Hematology   – CBC with differential at  birth to evaluate for polycythemia as well  as WBC. 8.Special education. 9....
“ A malformation  syndrome characterized  by a high short skull,  underdevelopment of  midface , soft tissue and  bony (‘m...
2 point mutation in the fibroblast growth factor receptor 2 gene
Craniosynostosis                     High steep forehead and                                      ocular hypertelorism    ...
Palatal anamoliesAnkylosis of jointsMaxillary hypoplasia                       Middle 3rd of face is retruded
 Gingival  thickening which results in  delayed eruption Trapezoid shaped appearance to the lips Cleft of soft palate ...
 Physical exam ofHand and foot.   MRI study   DNA Analysis for FGFR    2.
 Surgical Skull  deformities are addressed in infancy Orbital and facial deformities are  corrected during early childh...
 DEFINITIONGoltz syndrome, also  known as focal dermal  hypoplasia or Goltz-Gorli  syndrome, is a rare form  of an abnorm...
•   SKIN•   localized areas of malformed skin(skin lesions).• lack color (pigmentation) in the affected areas or linear pi...
Face   Mild microcephaly   Skull asymetric   Scalp hair sparse and    brittleEye Coloboma of the iris Nystagmus Co...
CNS   Mental retardation   Mixed hearing lossMUSCULOSKELETAL               SYSTEM   Short assymetric stature   Synda...
 Hypodontia. Oligodontia. Supernumerary   teeth. Papillomas   on  gingiva, base and  dorsum of the tongue  and periora...
 Goltz syndrome is generally diagnosed by the presence of the characteristic skin abnormalities coupled with the characte...
 Dermatological   treatments such as skin  creams  Dental surgery Skeletal deformities may be corrected by  orthopedic ...
 NORD   GUIDE TO RARE DISORDERS  (LIPPINCOTT) SYNDROMES OF THE HEAD AND  NECK (OUP) Google.com
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
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Transcript of "craniofacial anomalies down , apert's and gorlin goltz syndrome"

  1. 1.  What is Down syndrome? What are the chromosome basics of Down syndrome? How do the extra genes lead to Down syndrome? What are the risk factors for conceiving a child with Down syndrome? What are the characteristic features and symptoms of Down syndrome? What type of prenatal screening is available for Down syndrome? How is the diagnosis of Down syndrome made? How is Down syndrome managed?
  2. 2. • “A genetic condition involving the presence of a 21st chromosome’’
  3. 3. Types of Down Syndrome 1. An extra (21) chromosome-this type of case is called trisomy 21 2. Translocation, in which 1 2 a chromosome is attached 3 to another one. 3. Mosaicism, in which some cells have 47 Purple-Trisomy 21 (95%) chromosomes Red-Translocation (4%) Yellow-Mosaicism (1%)
  4. 4.  The only well known risk factor for conceiving a child with Down syndrome is advanced maternal age.
  5. 5.  Mothers age at conception Risk of Down syndrome 25 years 1 in 1,250 30 years 1 in 1,000 35 years 1 in 400 40 years 1 in 100 45 years 1 in 30
  6. 6.  alpha-fetoprotein (AFP)screening test. the nuchal translucencytest.  Ultra sound screens.
  7. 7.  It is recognized from the characteristic phenotypic features. Confirmed by Karyotype.
  8. 8. hypothyroidism Congenital Heart leukemia Defects Down syndrome GI Early malformationsAlzheimer’s (celiac disease disease Hirschsprung Disease) Opthalmic Disorders Hearing loss (glaucoma Congenital Cataracts)
  9. 9. 1. Growth – Measurements should be plotted on the appropriate growth chart for children with DS. This will help in prevention of obesity and early diagnosis of celiac disease and hypothyroidism.2. Cardiac disease – All newborns should be evaluated by cardiac ECHO for CHD in consultation with pediatric cardiologist.3. Hearing – Screening to be done in the newborn period, every 6 months until 3 yrs of age and then annually.
  10. 10. 4. Eye disorders - An eye exam should be performed in the newborn period or at least before 6 months of age to detect strabismus, nystagmus, and cataracts.5. Thyroid Function – Should be done in newborn period and should be repeated at six and 12 months , and then annually.6. Celiac Disease – Screening should begin at 2 yrs. Repeat screening if signs/Sx develop.
  11. 11.  7.Hematology – CBC with differential at birth to evaluate for polycythemia as well as WBC. 8.Special education. 9.Speech therapy
  12. 12. “ A malformation syndrome characterized by a high short skull, underdevelopment of midface , soft tissue and bony (‘mitten glove’) fusion of neck vertebrae and mental retardation.Synonym : acrocephalosyndac tyly
  13. 13. 2 point mutation in the fibroblast growth factor receptor 2 gene
  14. 14. Craniosynostosis High steep forehead and ocular hypertelorism Ear infectionsProgressive synostosisof bones in the feet Visual losshands and vertebrae
  15. 15. Palatal anamoliesAnkylosis of jointsMaxillary hypoplasia Middle 3rd of face is retruded
  16. 16.  Gingival thickening which results in delayed eruption Trapezoid shaped appearance to the lips Cleft of soft palate Bifid uvula V shaped arch Crowding
  17. 17.  Physical exam ofHand and foot. MRI study DNA Analysis for FGFR 2.
  18. 18.  Surgical Skull deformities are addressed in infancy Orbital and facial deformities are corrected during early childhood Limb and jaw deformities are addressed duringaldolescence
  19. 19.  DEFINITIONGoltz syndrome, also known as focal dermal hypoplasia or Goltz-Gorli syndrome, is a rare form of an abnormal skin condition that is believed to be a dominant, X- linked trait.
  20. 20. • SKIN• localized areas of malformed skin(skin lesions).• lack color (pigmentation) in the affected areas or linear pigmentation).• Fatty deposits (papillomas) are usually present in areas oftypically sensitive skin, such as the gums, lips, tongue, armpits etc.• Nodules of yellowish fatty tissue can grow on the affected skin,particularly in skin folds.
  21. 21. Face Mild microcephaly Skull asymetric Scalp hair sparse and brittleEye Coloboma of the iris Nystagmus Conjuctival papillomas Retinal neovascularization
  22. 22. CNS Mental retardation Mixed hearing lossMUSCULOSKELETAL SYSTEM Short assymetric stature Syndactyly (75%) Brachydaclyly (60%)
  23. 23.  Hypodontia. Oligodontia. Supernumerary teeth. Papillomas on gingiva, base and dorsum of the tongue and perioral region. Cleft lip and cleft palate.
  24. 24.  Goltz syndrome is generally diagnosed by the presence of the characteristic skin abnormalities coupled with the characteristic fatty deposits in the gums, lips, armpits.
  25. 25.  Dermatological treatments such as skin creams  Dental surgery Skeletal deformities may be corrected by orthopedic surgery.
  26. 26.  NORD GUIDE TO RARE DISORDERS (LIPPINCOTT) SYNDROMES OF THE HEAD AND NECK (OUP) Google.com
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