Presentation is loading. Please wait.

Presentation is loading. Please wait.

Victoria Schunemann, MS4 CRANIOSYNOSTOSIS: A CASE OF APERT SYNDROME.

Similar presentations


Presentation on theme: "Victoria Schunemann, MS4 CRANIOSYNOSTOSIS: A CASE OF APERT SYNDROME."— Presentation transcript:

1 Victoria Schunemann, MS4 CRANIOSYNOSTOSIS: A CASE OF APERT SYNDROME

2  6 yo Romanian female with:  Apert syndrome  ADD  Speech delay  PSurgHx  R syndactyly release  “Hip” surgery  FamHx  No Apert syndrome or non-syndromic craniosynostosis  Physical Exam  HEENT: turribrachycephaly; hypertelorism; proptosis; midface retrusion; relative prognathia  Ext: previously repaired syndactyly on R, fused fingers on L; b/l fused toes  Neuro: PERRL, EOMI, CN II-XII intact; moves all extremities equally with good strength THE CASE

3  *NOT actual patient* THE CASE

4

5  Xray THE CASE

6  Xray THE CASE

7  CT THE CASE

8  CT THE CASE

9  CT THE CASE

10  CT THE CASE

11  CT THE CASE

12  1894 – Wheaton  1906 – Apert  Triad  Craniosynostosis  Bilateral coronal sutures  Midface hypoplasia  Symmetric syndactyly  hands AND feet  Other findings  Megalencephaly  Hypoplasia of corpus callosum  Aplasia of septum pellucidum  Developmental delay  Fusion of other joints  Including cervical spine APERT SYNDROME

13  Anomalies  CNS  Hydrocephalus  Distorted ventricles  Chiari malformations  Orbits  Proptosis  Hypertelorism  Strabismus  Amblyopia  Midface  Impaired respiration  Obstructive sleep apnea APERT SYNDROME

14  Epidemiology  4.5% of cases of syndromic craniosynostoses  Incidence  1 in 160,000 births  Prevalence  1 in 55,000 births  M~F  Asian; Hispanic APERT SYNDROME

15  Cranial development  Matrix theory  Base – endochondral ossification  Calvaria – intramembranous ossification APERT SYNDROME

16  Genetics  Autosomal dominant  Majority de novo mutations  85% vs. 15%  Risks  Advanced paternal age  FGFR2  2 missense mutations  755C->G, resulting in Ser252Trp  758C->G, resulting in Pro253Arg APERT SYNDROME

17  FGFR  Tyrosine kinase receptor  Functions  Embyronic development  mesoderm induction  antero-posterior patterning  limb development  ossification  neural induction  neural development  Mature tissue  angiogenesis  keratinocyte organization  wound healing processes APERT SYNDROME https://www.qiagen.com/geneglobe/pathwayview.aspx?pathwayID=180

18  Molecular Biology  Gain of Function  Increased affinity for ligands  Loss of ligand binding specificity  Epithelial – mesenchymal interaction APERT SYNDROME

19  Combined craniofacial case with plastics  Monobloc with distraction and cranial vault remodeling TREATMENT

20  Bicoronal sinusoidal incision TREATMENT

21  Flap raised with exposure to orbits and zygomatic arches  Pericranium dissected off cranium for flap  Bi-frontal craniotomy  Recontouring of frontal bone with barrel staves and burring  Dissection down to foramen cecum

22  Gingival incisions  Osteotomies – zygomatic arches, sphenoids, orbits, posterior nose, lateral pterygoid plates  Free midface from cranium  Disimpaction forceps to mobilize face TREATMENT

23  Distractor placement and mobilization to 15 mm before returning to 3mm  Frontal bone plated to supraorbital bar TREATMENT

24  Summary  Triad  Craniosynostosis of coronal sutures  Bilateral syndactyly of fingers and toes  Midface hypoplasia  Mutations in FGFR2  Majority de novo  Can be familial  Gain of function  Treatment  Surgery at early age  Can require continued surgeries  Family support APERT SYNDROME

25 POST-OP

26  UCSD Neurosurgery  Rady Children’s Hospital  Dr. Meltzer  Dr. Cohen THANKS TO…

27 Agochukwu NB, Solomon BD, et al. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst Sep;28(9); Epub 2012 Aug 8. Bruce DA.Consensus: Craniofacial synostoseS: Apert and Crouzon syndromes. Child's Nerv Syst (1996) 12: Carinci F, Pezzetti F, Locci P, et al. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. J Craniofac Surg May;16(3): Cunningham ML, Seto ML, et al. Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofacial Res 10, 2007; 67–81. Goodrich J. (2008). Craniofacial Syndromes, In B. Brandenburg & I Ip (Eds.), Principles and Practice of Pediatric Neurosurgery ( ). New York: Theeme Medical Publishers, Inc. Ibrahimi OA, Chiu ES, et al. Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg Jan;115(1): Katzen JT, McCarthy JG. Syndromes involving craniosynostosis and midface hypoplasia. Otolaryngol Clin North Am Dec;33(6): , vi. Kimonis V, Gold J, et al. Genetics of Craniosynostosis. Semin Pediatr Neurol 14: Morriss-Kay GM, Wilkie AOM. Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J. Anat. (2005) 207, pp637–653.. Ocal E, Sun P, Persing J. (2008). Craniosynostosis, In B. Brandenburg & I Ip (Eds.), Principles and Practice of Pediatric Neurosurgery ( ). New York: Theeme Medical Publishers, Inc. Rice DP (ed): Craniofacial Sutures, Development, Disease and Treatment. Front Oral Biol. Basel, Karger, 2008, vol 12, p WORKS CITED


Download ppt "Victoria Schunemann, MS4 CRANIOSYNOSTOSIS: A CASE OF APERT SYNDROME."

Similar presentations


Ads by Google