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The Faculty of Graduate Studies and Research University of Manitoba CRANIOFACTAL MORPHOLOGY IN DOI^TN'S ANOMALY (TRISOI{Y 2I) A * CROSS SECTTONAL STUDY USTNG POSTERO-ANTERIOR RADTOGRAPHS A Thesís Presented to The Faculty of Graduate Studies and Research University of Manitoba In Partial Fulfillment of the Requirements for the Degree Master of Science by Subash Rupchand Alimchandani Department of Dental Science January, 1973 CR/\NIOFACIAL MORPI{OLOGY IN DOI^trNIS ANO¡4ALY (TRISOMY 2L) A CROSS SECTIONAL STUDY USING POSTERO_ANTERIOR RÀDIOGRÀP}IS by Subash Rupchand Alimchandani ABSTRACT Previous investigations have indicated that there are marked differences in the craniofacial complex of individu¿ls çì +h Ilnr,zn I q crz¡fl¡6¡¡¡s aS COmpared with nOrmal subj ects " The purpose of this investigation was to determine if individuals having a Trisomy 21 karyotype show a distinct phenotype and to observe on a cross sectional basis the changes occurring with growth" The sample consisted of L27 Trisomy 2L and L37 Control subjects, who ranged in age from three to fiftr¡-qiv years" Linear measurements were obtained from postero- anterior r.rdiographs and by direct measurement on the subject's face. These measuremenLs were statistically analyzed to assess the significant differences betwcen the Trisomy 2L and Control groups through six age ranges. The signif icant f incli-nqs \,vere as f ollows: The overal-l size of the Trisomy 2I individual was III " smaller at the age of three yeat:s and this smal-Iness persisted into adulthoocl. In most of the alîeas studied, crrowfh ôccìlrred af â .-ôÌnnârabl-e'""'È/-' rate and direction to that found in the Controls'. However, there were some areas in the Trisomy 2L group, such as the nasal cavity height' maxi1lar1- width, and the inter-orbital width which were affected more than other areas of the craniofacial complex" Growth retardation in these areas was present at the age of three years alr<f increases in thi ,e measurements occurred at a comparatively decreasing rate as compared to that of the Control group, suggesting that the retardation in the growth of cartilage may be responsible for the characteristic craniofacial- morphology of the Trisomy 2L subjects. The females were smaller than the males in both groups. The dif f ere,'ices i-n growth rates that were found betr^-een the se:ies in tire Trisoml' 2I group were also found to occur in the Cotii-rol group " Changes in 'i:he orbital region of the Trisomy 2L group indicated that at younger age rahges, the most superior points on the orbital outlines were located latera11y in relation with the most inferior points on the orbital out- lines, giving a lateral slant to the orbits. However, as their ages advanced, the most superior points on the orbital outlines were locaLed medial to the most inferior points on the orbital outlines so that the or]:its appeared to have a medial slant simi-Iar to that seen in the Control group at all agc ranges, This; chanç.¡e in the slant of the orbits iv. of the Trisomy 2r group was due to a diniinished increase in the supraorbital width accompanied by the compensatory and normal changes occurring at the inferior and lateral orbital margins respectively. Asymmetries were found to be present in the cranio- faciar complex of both the Trisoiriy 2r and control groups with a tendency for the left side to be rarger. The largest. asymmetries occurred in the temporal region of the Trisomy 2I group" The metopic suture was patent in a high percentage of the Trisoniy 2r individuals, similar findings were observed for the presence of sutural bones in the craniofacial complex of the Trisomy 2I group. The bony orbits in the Trisomy 2L group showed the presence of orbital hypotel0rism associated with pupillary hypotelorism- rn contrast, the separation between the endocanthions or the eyes showed the presencc of occul-ar hypertelorism at all ases. ACKNOWLBDGEMENTS To my advisor, Dr " J.F" Cleall, I wish to express my sincere appreciation for having provi.ded me the opportunity to work under his abre guidance, and thank him for having given so unselfishly of his time and vast knowledge. His valuable suggestions during the preparation of this thesis are most appreciated" I also wish to thank Drs. L"C" Melosky and E. Cohen, who have made my stay at the university of Manitoba a true learning and worthwhile experience. Special thanks is expressed to Dr. F"S" Chebib who provided invaluable assistance in the statístical analysis of the data" Appreciation is expressed to Dr. J.L" Hamerton, Director of Meclical Genetics, winnipeg children's Hospital and his departmental staff for providing an introductory insight into the field of cytogenetícs. Special thanks is expressed to Dr. A"S"G" yip for his guidance and helpful suggestions during the preparation of this thesis" The author is grateful to Dr. Lowther and the staff of the Manitoba school for the Mentally Retarded and the staff of the St" Amant !{ard for their co-operative assistance in gathering the data. Sincere appreciation is expressed to Mr. A. Domokos, Mr, A" Scott, and Mr" A. Cox for their help with the art vi" \¡¡ork and illustrations " Finally, I am most deeply thankful to my wife, Sylvie for her patience, understanding and encouragement, without which, this pursuit of knowledge would not have been possible. This investigation was supported in part by Grant 606-7-222 from the Department of National Health and Welfare" TABLE OF CONTENTS CH.APTER PAGE I. INTRODUCTION I rÏ. REVTEW OF THE LTTERATURE"" 4 Downts Anomaly" " " 4 Normal Growth of the Craniofacial Complex 25 Cephalometric Roentgenography 38 Asymmetries in the Craniofacial Complex. 4L Closure of the Metopic Suture. 44 Sutural Bones 46 TTT " ¡{ETHODS AND MATERIALS 49 ïv'" RESULTS 81 Ske1etal Analysis.. ooo.o 87 Asymmetries in the Craniofacial Complex r29 Assessment of the Distance Between the Orbital Cavitiesr the Pupils and the Eyes l-4 I Differences Observed. in the Presence of Patent Metopic Sutures i.46 Differences Observed in the Presence of Sutural Bones " 148 V" DTSCUSSTON" 150 VÏ. SUMMARY AND CONCLUSIONS 185 BTBLTOGRAPHY I Rq 100 APPENDTX" c o o c o o +¿ ¿ GLOSSARY 230 LISÎ OF TABLES TABLE PAGE I. Age distribution of the sample 51 II" Age distribution of the males..o 51 III. Age distribution of the females 51 IV. Degrees of freedom for eight sources of variation for the 264 subjects 77 V. Allocation of the degrees of freedom for the mixed analysis of variance for the cranio- facial asymmetries. VI. Levels of significance revealed by the analysis of variance for 2I linear variables and 4 ratioso.ooo 85 VII. Leve1s of significance revealed by the mixed analysis of variance for 30 linear variables representing horizontal asymmetries of the craniofacial skeleton VIII" Percentage width attained by the Trisomy 2L group using the mean measurements of the Control and Trisomy 21 groups for 2I variablesoo. 132 IX" Means and standard errors for the main effect of side for the asymmetries in the cranio- facial complex ooo.o 134 X" Means and standard errors for the effect of side for the asvmmetries in the craniofacial complex of the ,ri"o*O 2I and Controt groups 135 ix TABLE PAGE XI " l'leans and standard errors f or the main ef f ect of group for the ratios of the distance between the orbital cavities, the pupils and the eyes in relation to the width of the face ",..: oôoóô L45 XII" Results of the Canthal index in the six age ranges of the Trisomy 2I and Controlgroups. 145 XIII. Patent metopic sutures present in the Trisomy 2L and Control groups L47 XIV" Sutural bones (wormian) present in the Trisomy 2L and Control grouPs.. 149 XV" Means and standard errors for the horizontal projection distance TeR-TeL " 200 XVI. Means and standard errors for the horizontal projection distance MsR-MsL " 2OL XVII. Means and standard errors for the horizontal projection distance ZyR-zyL .coc. 202 xvIII" Means and.standard errors for the horizontal projection distance MxR-MxL oocoo 203 XIX, Means and standard errors for the horizontal projection distance NIR-NIL oøooo. 204 XX" Means and standard errors for the horizontal projection distance NbR-NbL ooôGo. 205 XXI, Means and standard errors for the horizontal projection distance NcR-NcL . 206 TABLE PAGE xxII. Means and standard errors for the vertical projection distance Cg-ANS 207 xxIII. Means and standard errors for the hbrizontal projection distance MoR-l4oL xxïv. Means and standard errors for the horizontal projection distance RoR-RoL 209 xxv" Means and standard errors for the horizontal projection distance MoR-RoR 2I0 xxvÏ" Means and standard errors for the horizontal projection distance MoL-RoL. " zLI XXVII. Means and Standard errors for Lhe horizontal projection disLance IoR-IoL" " 2I2 XXVIII. Means and Standard errors for the horizontal projection distance FzR-FzL 2L3 xxIX. Means and standard errors for the horizontal projection distance LoR-LoL 2I4 xxx. Means and standard. errors for the horizontal projectiôn distance MoR-LoR 2L5 xxxI. Means and standard errors for the horizontal projection distance MoL-LoL 216 xxxll. Means and standard errors for the vertical projection distance RoR-ÏoR 2L7 xxxIII" Means and standard errors for the vertical projection distance RoL-IoL 218 xxxlv, Means and standard errors for the horizontal projection distance cdR-cdl .oo'ooo 2]-9 xi. TABTE PAGE XXXV" Means and Standard errors for the horizontal Projection distance GoR-GoL 220 XXXVI" Standard deviation of the measurement error and the maximum error associated with 952 and 992 of each of the variables used in the skeletal analysis 22L ÐO(VII. Means and Standard errors for the soft tissue inter-endocanthal distance IER-IEL" 222 XXXVIII" Means and Standard errors for the soft tissue inter-pupillary distance PR-PL 223 XXXIX.
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