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CLP & CMF CMF Clinic 30 April, 2004 Anita McKenzie DOB 27/01/1981 Cleidocranial dysostosis: timing of surgery Courtney REID DOB 14/02/1990 Goldenhar Syndrome:

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Presentation on theme: "CLP & CMF CMF Clinic 30 April, 2004 Anita McKenzie DOB 27/01/1981 Cleidocranial dysostosis: timing of surgery Courtney REID DOB 14/02/1990 Goldenhar Syndrome:"— Presentation transcript:

1 CLP & CMF CMF Clinic 30 April, 2004 Anita McKenzie DOB 27/01/1981 Cleidocranial dysostosis: timing of surgery Courtney REID DOB 14/02/1990 Goldenhar Syndrome: obstuctive sleep apnoea Skye-Maree HINTON DOB 29/10/2000 Arachnoid cyst: for discussion Cameron DRAKE DOB 2/10/2003 Intraorbital hemangioma: for discussion

2 CLP & CMF Anita McKENZIE DOB 27/01/1981 Age 23 years Diagnosis: Cleidocranial dysostosis Clinical features: facies:frontal bossing facies:frontal bossing low and broad nasal bridge low and broad nasal bridge dentition: class III malocclusion dentition: class III malocclusion restricted jaw opening supernumerary teeth delayed eruption of secondary dentition skeletal: short stature skeletal: short stature short right femur shortened terminal tufts of distal phalanges

3 CLP & CMF Cleidocranial Dysostosis first described by Marie and Santoin in 1897 Autosomal Dominant; 33% sporadic; M=F Generalised skeletal dysplastic disorder mutation in CBFA1 gene, deletion in chromosome 6p21 characterized by 1) absent or incompletely formed clavicles 10% aplasia / 90% hypoplasia, usually lateral portion 2) characteristic facial appearance heavy protruding brow, prognathic jaw wide nasal bridge, hypertelorism reduced midface height 3) short stature 4) dental abnormalities - delayed eruption, supernumerary dentition

4 CLP & CMF Cleidocranial Dysostosis Radiological Appearances Skull Wormian bones Patent fontanelles Delayed mineralisation of mandibular symphysis Others absent clavicles, small scapula acro-osteolysis extra epiphyses in metacarpals II and V delayed carpal ossification wide symphysis pubis

5 CLP & CMF Anita McKENZIE Problems:Malocclusion/Prognatism Restricted jaw opening Plan: 3 stage procedure 1) bilateral coronoidectomies 2) bimaxillary advancement 3) dental implants

6 CLP & CMF Anita McKENZIE Progress: Booked for first stage April 2002 deferred due to university studies Booked again for May 2004 deferred due to work commitments (engineer)

7 CLP & CMF Anita McKENZIE Photographs 12 November 2003

8 CLP & CMF Anita McKENZIE 12 November 2003 Occlusal intraoral photographs

9 CLP & CMF Anita McKENZIE 12 November 2003 Occlusal intraoral photographs

10 CLP & CMF Anita McKENZIE 12 November 2003 Dental Models

11 CLP & CMF Anita McKENZIE Cephalograms

12 CLP & CMF Anita McKENZIE OPG

13 CLP & CMF Anita McKENZIE CT TMJ

14 CLP & CMF Anita McKENZIE CT Recon - Jaw Close

15 CLP & CMF Anita McKENZIE CT Recon - Jaw Open

16 CLP & CMF Anita McKENZIE MRI TMJ

17 CLP & CMF Anita McKENZIE MRI TMJ

18 CLP & CMF Courtney REID DOB 14/02/1990 Age 14 years Diagnosis: Goldenhar variant FAV spectrum Clinical features: facies:marked facial asymmetry facies:marked facial asymmetry epibulbar dermoids preauricular skin tags left ear microtia left macrostomia mandibular retrognathia

19 CLP & CMF Courtney REID: Golderhar syndrome first described by Von Arlt in Defined by Maurice Goldenhar in Autosomal recessive or dominant inheritance. Male-female ratio 2:1. 1 in 3,000 to 1 in 5,000 live births. characterized by 1)conjunctival epibulbar dermoids cysts, 2)auricular appendices with pretragal blind fistulas. 3)Skull may be asymmetrical with micrognathia, accessory ribs and abnormal vertebrae. 4)Hearing defect of various degrees from near normal to severe hearing loss (conductive type 5) mental retardation in 10 % of cases

20 CLP & CMF Courtney REID Past History:Tracheostomy dependant until age 6 Obstructive sleep apnoea Marked developmental delay Gastrostomy until age 7 Epilepsy Recurrent bilateral ear infections Chronic constipation

21 CLP & CMF Courtney REID Surgery: 1996:Left hemi-mandibular advancement/TMJ reconstruction with costochondral graft. 1998:Revision left TMJ- Shave overgrown costochondral graft. 2002:Removal of fixation plates 2 o to exposure

22 CLP & CMF Courtney REID Problem: Sleep apnoea Sleep study markedly reduced REM sleep markedly reduced REM sleep mild obstructive sleep apnoea mild obstructive sleep apnoea ENT (Mar 04) tonsils not enlarged but small oropharynx tonsils not enlarged but small oropharynx layngobronchoscopy planned layngobronchoscopy planned consider CPAP, respiratory involvement consider CPAP, respiratory involvementCraniofacial bilateral sagittal split if other measures unsuccessful bilateral sagittal split if other measures unsuccessful

23 CLP & CMF Courtney REID Photographs: 1 July 2002

24 CLP & CMF Courtney REID Clinical Photographs: 1 July 2002

25 CLP & CMF Courtney REID 3D CT: 29 January 2003

26 CLP & CMF Skye-Maree HINTON DOB 29/10/2000 Age 3 1/2 years Diagnosis: Right Middle Fossa arachnoid cyst Clinical features: Right fronto-parietal prominence Right pseudostrabismus

27 CLP & CMF Skye-Maree HINTON : Arachnoid Cysts congenital anomaly of the arachnoid membrane that leads to CSF "sequestration" or focal impairment of CSF circulation with cystic expansion of the involved space. 1% of all intracranial space-occupying lesions may develop throughout the cerebrospinal axis, with a predominance in the sylvian fissure and middle cranial fossa, suprasellar cistern, quadrigeminal cistern, cerebellopontine angle, posterior infratentorial midline, cerebral convexity and interhemispheric fissure. may cause focal neurological deficits, raised intracranial pressure, and/or epileptic seizures

28 CLP & CMF Skye-Maree HINTON Progress: Swelling present at birth, slowly enlarging Surgery delayed to assess cognitive development, and parents in custody Plan: Neurosurgery: Shunting unlikely, marsupialise cyst Craniofacial: Cranioplasty

29 CLP & CMF Skye-Maree HINTON Photographs 11 June 2003

30 CLP & CMF Skye-Maree HINTON Photographs 11 June 2003

31 CLP & CMF Skye-Maree HINTON Cranial CT

32 CLP & CMF Skye-Maree HINTON CT Recon

33 CLP & CMF Skye-Maree HINTON CT Recon

34 CLP & CMF Cameron DRAKE DOB 2/10/2003 Age 6 months Diagnosis: Left intraorbital hemangioma Clinical features: Left ocular dystopia

35 CLP & CMF Cameron DRAKE History: Dystopia noted 3 weeks of age Commenced on steroids with marginal improvement Surgery: Excision of tumour Combined plastics, neurosurgery and opthalmology Transcranial approach Frontal craniotomy, orbital disassembly Histopathology: hemangioma

36 CLP & CMF Cameron DRAKE Photographs 5 April 2004

37 CLP & CMF Cameron DRAKE Photographs 5 April 2004

38 CLP & CMF Cameron DRAKE Photographs 5 April 2004

39 CLP & CMF Cameron DRAKE MRI Orbits

40 CLP & CMF Cameron DRAKE MRI Orbits

41 CLP & CMF Cameron DRAKE Intra-Op Photographs 7 April 2004

42 CLP & CMF Cameron DRAKE Intra-Op Photographs 7 April 2004

43 CLP & CMF Cameron DRAKE Intra-Op Photographs 7 April 2004


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