1 / 31

What can go wrong? failure of specification -organ or structure anlage (precursor) failed to form

What can go wrong? failure of specification -organ or structure anlage (precursor) failed to form failure of differentiation -incorrect organ or structure anlage formed failure of proper morphogenesis

aric
Download Presentation

What can go wrong? failure of specification -organ or structure anlage (precursor) failed to form

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. What can go wrong? • failure of specification -organ or structure anlage (precursor) failed to form • failure of differentiation -incorrect organ or structure anlage formed • failure of proper morphogenesis -organ or structure failed to preform proper morphogenic movements or interactions with other structures • Causes: • chromosomal anomalies • epigenetic factors • uterine constraints • secondary effects from extraembryonic defects • exposure to teratogens, either biological or chemical

  2. Holoproencephaly

  3. Arhinia

  4. Craniosynostosis Craniosynostosis is the premature fusion of one (“simple”) or more (“compound”) of the cranial sutures. Incidence: 1 per 1,800-2,200 births The sagittal suture is affected in 40 to 60 percent of cases, the coronal suture in 20 to 30 percent of cases, and the frontal suture in less than 10 percent of cases. True lambdoid synostosis is rare. This premature fusion occurs before completion of bone growth, resulting in a deformed skull and cranial vault. Virchow's Law: With a prematurely fused suture, skull growth is restricted in the plane perpendicular to the affected suture and enhanced in a plane parallel to the affected suture.

  5. Trigonocephaly- Metopic Synostosis Scaphocephaly - fuse sagittal suture

  6. Apert Syndrome craniosynostosis of the coronal suture 1:60-70,000 Autosomal dominant syndactyly

  7. Orbital Hypertelorism Facial Bipartition Procedure

  8. Chiari Malformation

  9. Hydranencephaly loss of cerebral cortices due to fetal stroke, trauma Cephalocele-congenital gap in skull leads to protrusion of CNS.

  10. Anencephaly 1:1000-2500 Failure of closure of anterior neuropore cranioschisis

  11. Agnathia

  12. Overall 1:500-2500 Approximately 70% are of unknown origin

  13. Kirbschus et. al. 2006

  14. Branchial Arch Anomalies

  15. Types I and II first branchial arch anomalies

  16. Types I-IV second branchial cleft cyst anomalies.

  17. Sagittal T2-weighted MR images show a hyperintense midline cystic mass of the foramen cecum (arrow).

  18. Treacher Collins Syndrome • down-slanting eyes • Notched lower eyelids • underdevelopment or absence of cheekbones and the side wall and floor of the eye socket • lower jaw is often small and slantingforward • underdeveloped, malformed and/or prominent ears • 1 in 50,000 • autosomal dominant

  19. Pierre Robin Syndrome (Robin Sequence) 1:50,000 micrognathia glossoptosis-downward or posterior displacement of the tongue inverted u-shaped cleft palate small posteriorized jaw natal teeth due to hypoplasia of the mandible oligohydraminos-impacts tongue between palatal shelves

  20. Beckwith-Wiederman Syndrome-autosomal dominant, incomplete penetrance macrosomia- large birth weight macroglossia- large tongue omphalacoele-umbilical hernia

  21. Crouzon Syndrome-1:25,000 craniosynostosis- coronal sagittal lambdoid hypoplastic midface exopthalomos mandibular prognathism 30-55% of patients have hearing loss due to atretic external auditory canals surgically assisted rapid palatal expansion (SARPE) Lefort III

  22. Ectrodactyly-ectodermal dysplasia-clefting (EEC) Syndrome 1:90,000 absent lacrimal puncti -reduced tearing cleft palate hypoplastic maxilla missing teeth enamel dysplasia furrowed tongue 30% of patients have conductive hearing loss ectrodactyly (lobster claw)

  23. NAGER ACROFACIAL DYSOSTOSIS 1:300,000 severe micrognathia malar hypoplasia distal limb anomalies

  24. Mobius Syndrome-1:8500 cranial nerve palsies III, V, VI, VII, IX, XII facial palsy lingual hypoplasia dysfunctional palate may be due to uterine compression of the basilar artery which results in brain stem ischemia unilateral case Which side?

  25. PENDRED SYNDROME- associated with thyroid disease, defect in sodium transporter results in enlarged vestibular aqueduct and endolymphatic sac. May also show a reduced cochlea and enlarged thyroid gland Meniere's Disease- too much endolymph

  26. Aniridia Familial Exudative Vitreoretinopathy (FEVR)- reduced peripheral vascularization leading to retinal ischemia micropthalmia Waardenburg's Syndrome

  27. Coloboma

More Related