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Hemifacial Microsomia


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Hemifacial microsomia (HFM) is defined as a condition that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches.

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Hemifacial Microsomia

  1. 1. Majd Hasanin
  2. 2. §Introduction §What is HFM ? §Etiology §Clinical Features/Manifestations §Treatment §Take Home Message §References 2
  3. 3. • Pharyngeal arches are bulges forming on the lateral surface of the embryo • First evident after weeks 3-4 of human development (Graham A. 2003) 4(Santagati, F., Rijli, F. M., 2003)
  4. 4. First and second branchial arch syndromes manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches. 5(Santagati, F., Rijli, F. M., 2003)
  5. 5. • Hemifacial microsomia (HFM) is defined as a condition that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches • The disorder varies from mild to severe, and occurs on one side in many cases. • Goldenhar syndrome is considered to be a variant of this complex, characterized by vertebral anomalies and epibulbar dermoids • The term oculoauriculo-vertebral spectrum (OAVS) is employed to group these syndromes, which are extremely complex and heterogeneous 7Gemilli et al. 2013Birgfeld and Heike 2012
  6. 6. • The birth prevalence was estimated to be 1/5600 • Although most cases are sporadic and a few families consistent with autosomal recessive inheritance have been reported, other families clearly support autosomal dominant inheritance • Infant boys are affected more often than infant girls (3 : 2) • The right side of the face and/ or body being more commonly and severely affected than the left side 8 su et al. 2007Passos Bueno et al. 2009
  7. 7. • Both genetic and environmental causes are implied in the pathogenesis of the syndrome • Vascular abnormalities • Hypoxia attributed to living at high altitude, maternal diabetes and teratogens including thalidomide and retinoic acid • Use of vasoactive medications and smoking are also risk factors • The exact etiology of HFM has not yet been determined, but appears to involve a disruption in the development of the first and second pharyngeal arches during the first 6 weeks of gestation Birgfeld and Heike, 2012Kelberman et al. 2001Haratz et al. 2011 10
  8. 8. The principal features include : 1. Facial asymmetry 2. Teeth abnormalities 3. Masticatory muscles affected 4. Microtia often associated with preauricular skin tags or pits, and conductive hearing loss. Gemilli et al. 2013 Mishra et al. 2013 12
  9. 9. - Orbital asymmetry or upper eyelid colomboma - Facial nerve supply might be affected. - Soft tissue might be affected by defeciency of masculature or lack of subcutaneous fat. - Other craniofacial features, including macrostomia, micrognathia, and cleft lip with or without cleft palate, can be present. - There may be ocular dermoids and vertebral anomalies these cases tend to be given the diagnosis of Goldenhar syndrome. - Cardiac, renal, skeletal, and central nervous system defects are more rarely observed Gemilli et al. 2013 13
  10. 10. Mishra et al. 2013 14 Asymmetry in the mandibular growth causing deviation to the affected side and that’s what is causing the facial asymmetry
  11. 11. Mishra et al. 2013 15
  12. 12. 16 - Malocclusions --proportional to the skeletal discrepancies. - Typically, the side affected: crowding, inclination of the anterior teeth toward the affected side and a unilateral crossbite. - Tooth size smaller on the affected side - Tooth development may be delayed on the affected side. Only if asked!!!(Pathogenisis might be related to delay in the development of the dental lamina Farias and Vargervik, 1988) - 25 % prevalence of congenitally missing teeth. Dental agenesis correlated to the severity skeletal malformation . - (Enamel hypoplasia has been documented in the primary incisors on the affected side, suggesting that the primary dental enamel may serve as a developmental marker for the timing of the events leading to the condition) - (For normal odontogenesis, the presence and interaction of normal neural crest ectoderm and of neural-crest-derived mesenchymal cells are required. - Disturbances in the odontogenic process can produce abnormal or incomplete dental development)
  13. 13. Maruko et al. 2000 17
  14. 14. Maruko et al. 2000 18 The teeth most commonly missing is the mandibular 2nd premolar, (followed by the maxillary second molar, mandibular second molar, mandibular lateral incisor, maxillary second premolar, and maxillary lateral incisor). Farias and Vargervik in 1988 stated that the most frequently missing teeth is the mandibular 3rd molar and 2nd premolar
  15. 15. Type IV Type V Farias and Vargervik, 1998 19
  16. 16. 20 - The difference in size between the affected and contralateral side was higher for the mandibular teeth. - In subjects with type IV anomaly, significant differences were found for the permanent mandibular first molar. - In patients with type V anomaly, significant differences were found for the permanent mandibular canine and mandibular first molar. - six subjects (15%) had a four-cusp mandibular first molar on the affected side and a five-cusp mandibular first molar on the contralateral side. (Morphological abnormalities of the mandibular first molar were found in subjects with HFM type III (one patient), type IV (two patients) and type V (three patients).
  17. 17. Heude et al. 2011 21 - A,B: right (unaffected side) and left (affected side) view of a skull 3D reconstruction. - C: Ct scan section showing the masticatory muscles - D,E: right and left view of masticatory muscle 3D reconstruction. absence of masseter muscle (in red) on the affected side and the strong reduction of the temporal muscle (in blue). The pterygoid muscle global volume is reduced by 31%.
  18. 18. genetic-conditions/hemifacial-microsomia-treatment/ 22
  19. 19. 23
  20. 20. 1. Pruzansky Classification System 2. Kaban’s modification of the Pruzansky classification system 3. Tenconi and Hall Classification 4. Munro and Lauritzen (anatomical surgical classification) Rodgers et al. 1991 24
  21. 21. 5. Rollnick and associates classification (According to phenotype) 6. SAT staging system proposed by David et al. Birgfeld and Heike, 2012 Rodgers et al. 1991 25
  22. 22. 7. OMENS classification scheme Birgfeld and Heike, 2012 Orbit Mandible Ear Facial Nerve Soft Tissue O0 O1 O2 O3 M0 M1 M2A M2B M3 E0 E1 E2 E3 N0 N1 N2 N3 S0 S1 S2 S3 26
  23. 23. • Surgical treatment requires a coordinated team approach involving multiple specialties, which can include plastic surgery, craniofacial surgery, orthognathic surgery, and microsurgery • A wide variety of surgical options exist, and individual treatment plans should be based on the patient’s needs Birgfeld and Heike, 2012 28
  24. 24. • Procedures for the eye and orbit in CFM typically involve either bony or soft tissue surgery • Infants require treatment of epibulbar dermoids if the visual axis is disrupted. Eyelid colobomas may require repair to protect the cornea and prevent exposure keratitis and blindness • Orbital asymmetry is corrected only if severe and typically is postponed until the orbital growth is complete at around age 3 or 4 years • Orbital repositioning is performed by a circumferential box osteotomy performed through an intracranial approach Birgfeld and Heike, 2012 29
  25. 25. Distraction Osteogenesis: 1. Type I 2. Type IIA 3. Type IIB 4. Type III Birgfeld and Heike, 2012 30
  26. 26. Meazzini et al. 2011 31
  27. 27. Meazzini et al. 2011 32
  28. 28. • Skin tags • Options for the auricle: 1. Autologous ear reconstruction a- 4 stage approach b- 3 stage approach c- 2 stage approach 2. Alloplastic ear reconstruction (Porous polyethylene) 3. Prosthetic ear Birgfeld and Heike, 2012 33
  29. 29. Birgfeld and Heike, 2012 34
  30. 30. • When the physician identifies facial nerve palsy, she must first determine whether the patient can protect and lubricate his cornea. If not, eye drops, lubricant, or a surgical procedure should be considered • A facial reanimation procedure should be considered for a patient who cannot move his or her mouth due to deficiencies of the buccal and marginal mandibular branches. Birgfeld and Heike, 2012 35
  31. 31. Birgfeld and Heike, 2012 36
  32. 32. 1. Free Flap: An adipofascial free flap is the best way to provide a large amount of soft tissue in a single surgical procedure for patients with severe deficiencies 2. Dermal Fat Graft: Can provide adequate bulk in moderate and mild deformities, but are prone to some degree of resorption and patients may require additional augmentations 3. Structural Fat Graft Birgfeld and Heike, 2012 37
  33. 33. genetic-conditions/hemifacial-microsomia-treatment/ 38
  34. 34. • HFM is a highly variable condition which requires and experienced physician and geneticist collaboration for diagnosis • Further genetic studies are required to determine the etiology of this condition 39
  35. 35. • Graham A. 2003. Development of the Pharyngeal Arches. American Journal of Medical Genetics 119A:251–256 • Santagati, F., Rijli, F. M., 2003. Cranial neural crest and the building of the vertebrate head. Nat Rev Neurosci. 4, 806-18. • Craig B. Birgfeld, Carrie Heike, 2012. Craniofacial Microsomia. Semin Plast Surg. 26:91–104. • S. Gimelli & C. Cuoco & P. Ronchetto & G. Gimelli & E. Tassano, 2013. Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia. J Appl Genetics. 54:361–365. • Passos-Bueno, M. R., Ornelas, C. C., & Fanganiello, R. D. (2009). Syndromes of the first and second pharyngeal arches: A review. Am J Med Genet A. 149A(8), 1853-1859. • • Pen-Hua Su, Ju-Shan Yu, Jia-Yuh Chen, Suh-Jen Chen, Shuan-Yow Li and Hsiao-Neng Chen, 2007. Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo–auriculo–vertebral spectrum and Treacher–Collins syndrome. Clinical Dysmorphology. Vol 16 No 4. • Karina Haratz, Chana Vinkler, Dorit Lev, Letizia Schreiber, Gustavo Malinger, 2011. Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction. Fetal Diagn Ther. 30:309–313. • D. Kelberman, J. Tyson, D. C. Chandler, A. M. McInerney, J. Slee, D. Albert, A. Aymat, M. Botma, M. Calvert, J. Goldblatt, E. A. Haan, N. G. Laing, J. Lim, S. Malcolm, S. L. Singer, R. M. Winter, M. Bitner-Glindzicz, 2001. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet. 109 :638–645 • Sven Fischer, Hermann-Josef Ludecke, Dagmar Wieczorek, Stefan Bohringer, Gabriele Gillessen-Kaesbach and Bernhard Horsthemke, 2006. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Human Molecular Genetics. Vol. 15, No. 4. • Abigail S. Tucker, Robert P. Watson, Laura A. Lettice, Gen Yamada and Robert E. Hill, 2004. Bapx1 regulates patterning in the middle ear: altered regulatory role in the transition from the proximal jaw during vertebrate evolution. Development 131, 1235-1245. • Craig T. Miller1, Deborah Yelon, Didier Y. R. Stainier and Charles B. Kimmel, 2003. Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw joint. Development 130, 1353-1365 • • R. R. J. Cousley and M. L. Calvert, 1997. Current concepts in the understanding and management of hemifacial microsomia. British Journal of Plastic Surgery. 50,536-551. • Lora Mishra, Satya Ranjan Misra, Manoj Kumar, Ramanupam Tripathy, 2013. Hemifacial Microsomia: A Series of Three Case Reports. Journal of Clinical and Diagnostic Research. 10 2383 – 2386. 40