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Craniosynostosis: a case of Apert Syndrome

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Presentation on theme: "Craniosynostosis: a case of Apert Syndrome"— Presentation transcript:

1 Craniosynostosis: a case of Apert Syndrome
Victoria Schunemann, MS4

2 The Case 6 yo Romanian female with: PSurgHx FamHx Physical Exam
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

3 The Case *NOT actual patient*

4 The Case

5 The Case Xray

6 The Case Xray

7 The Case CT

8 The Case CT

9 The Case CT

10 The Case CT

11 The Case CT

12 Apert Syndrome 1894 – Wheaton 1906 – Apert Triad Other findings
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

13 Apert Syndrome Anomalies CNS Orbits Midface Hydrocephalus
Distorted ventricles Chiari malformations Orbits Proptosis Hypertelorism Strabismus Amblyopia Midface Impaired respiration Obstructive sleep apnea Virchow

14 Apert Syndrome Epidemiology
4.5% of cases of syndromic craniosynostoses Incidence 1 in 160,000 births Prevalence 1 in 55,000 births M~F Asian; Hispanic

15 Apert Syndrome Cranial development Matrix theory
Base – endochondral ossification Calvaria – intramembranous ossification

16 Apert Syndrome 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

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

18 Apert Syndrome Molecular Biology Gain of Function
Increased affinity for ligands Loss of ligand binding specificity Epithelial – mesenchymal interaction

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

20 Treatment Bicoronal sinusoidal incision

21 Treatment 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 Treatment Gingival incisions
Osteotomies – zygomatic arches, sphenoids, orbits, posterior nose, lateral pterygoid plates Free midface from cranium Disimpaction forceps to mobilize face

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

24 Apert Syndrome Summary Triad Mutations in FGFR2 Treatment
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

25 Post-Op

26 Thanks to… UCSD Neurosurgery Rady Children’s Hospital Dr. Meltzer
Dr. Cohen

27 Works Cited 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


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