Temtamy (1996)

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Cairo Dental Journal, 12 (1) : 13-20, 1996. COMPARISON OF ORAL, CRANIOFACIAL AND RADIOGRAPHIC FEATURES IN NOONAN AND TURNER SYNDROMES Samia A. Temtamy*, Zeinab A. Abdel Eman H.A. Aboul-Ezz*, Sanaa A. , Mostafa I. Mostafa* ABSTRACT Noonan syndrome and Turner syndrome are characterized by similar phenotypes, mainly, short stature, low birth weight, triangular face, prominent ears and webbed neck. This study clinically and radiographically docu- mented and compared the oro-dental and craniofacial manifestations in both syndromes to assess the important differences and similarities that might be of diagnostic value. Three groups were included for comparison, group I consisted of 10 normal control females, group II consisted of 10 cases of Noonan syndrome, group III con- sisted of 10 cases of Turner syndrome. All cases were subjected to pedigree analysis, clinical examination, cy- togenetic findings, clinical photographs, lateral and postero-anterior cephalograms and panoramic radio- graphs. The results were subjected to statistical analysis of variance (ANOVA) which showed that the similarities in both syndromes were high arched palate, thick lips, crown and root formation abnormalities, malocclusion, mandibular retrognathia, shortened posterior cranial base length and both maxillary length and width. Apparent hypertelorism was due to soft tissue telecanthus not a true bony hypertelorism. Noonan syn- drome differed in the presence of tongue anomalies, increased mandibular downward tipping and vertical jaw di- mension; shortened anterior cranial base length, mandibular width and effective mandibular length. Turner syn- drome patients showed wide maxillary sinus, maxillary retrognathia and increased labio-inclination of lower central incisors to their apical base. INTRODUCTION line, multiple pigmented neavi, shield chest, Noonan and Turner syndromes are char- lymphedema, hyperconvex nails, cubitus acterized by similar phenotypes, mainly valgus, renal abnormalities, congenital heart short stature. Noonan syndrome was first disease, cognitive defects and autoimmune described by Kobylinski, 1883(9), and later differentiated from Turner syndrome by It is thus important to document and Noonan and Ehmke in It is an compare the oro-dental and craniofacial autosomal dominant and its manifestations of both Noonan syndrome incidence has been estimated to be between and Turner syndrome clinically and radio- 1/1000 and 1/2500 live births(12). It affects graphically, to assess the important differ- both sexes; some cases occur in sibs who ences and similarities that could be of diag- are sometimes born to consanguineous nostic value in both syndromes. Cytogenetic studies in Noonan syndrome revealed normal chromo- SUBJECTS AND METHODS It shares Turner stigmata with In the present study, three groups were cardiac defects and a tendency towards included for comparison group (I) 10 nor- mental retardation(18). mal control females of similar age to the Turner syndrome was described in 1938. second and third groups, group (II) 10 Its incidence is approximately 1/10000 cases of Noonan syndrome and group (III) females. Chromosomal findings are 45,XO 10 cases of Turner syndrome. or equivalents or mosaics such as 45,XO/46, All studied cases were subjected to pedi- XXp;46,XX/45,XO; 46XXi(18). Cardinal fea- gree analysis, clinical examination, cytoge- tures include short stature, streak gonads netic findings, clinical photographs and with sexual infantilism, somatic abnormali- radiographic examination (including both ties, low birth weight, triangular face, promi- lateral and postero-anterior cephalograms nent ears, webbed neck, low posterior hair and panoramic radiographs). * Human Genetics Department, National Research Center, Cairo. Professor, Department of Oral Radiology, Faculty of Oral and Dental Medicine, Cairo University. Assistant Professor, Department of Orthodontics, Faculty of Oral and Dental Medicine, Cairo University.14 Temtamy et al. RESULTS tongue abnormalities (in the form of partial Turner syndrome: ankyloglossia, bifid tip of the tongue, and Genetics: The cytogenetic findings in the fissured tongue) were found in 40% of 10 studied cases with Turner syndrome cases and partial anodontia was also found showed 2 cases with (45,XO), 2 cases with in a smaller percentage of cases. (46,XisoXq), 3 cases with (45,XO/46, Cephalometric findings: Figures (6&7) XisoXq), 2 cases with (45,XO/46,XX) and and tables (1&2) show the following: one case with (45,XO/46,XX/47, XXX). This On the lateral head films: indicates almost equal representation of the 1. The Sella articular (S-Ar) cytogenetic varieties of Turner syndrome. which represents the posterior cranial Oro-dental evaluation showed that high base length was found to be significantly arched palate was found in 90% of patients lower than that of the control group. (Fig. 1), wide maxillary sinuses occurred in 2. - posterior nasal spine meas- 80% of patients (Fig. 2), crown formation urement, which reflects total maxillary abnormalities (in the form of enamel hypo- length, was significantly lower than that plasia and hypocalcification and microdon- of the control group. tia) (Fig. 3), root formation abnormalities 3. SNA and SNB angles which represent the (stunted roots) (Fig. 4) and thick lips were anteroposterior position of both maxil- found in 70% of patients, malocclusion lary and mandibular bases in relation to (Fig. 5) (anterior open bite, wide overjet, the cranium were found to be signifi- deep overbite, crowding, spacing and cross cantly lower than those of the control bite) were found in 60% of cases, while group, indicating retrognathia. R Fig. 1: Photograph showing high-arched palate in a Fig. 2: Panoramic radiograph showing missing upper case of Turner's syndrome. lateral incisors and a wide maxillary sinus in a case of Turner's syndrome. Fig. 3a: Photograph showing enamel hypoplasia in a Fig. 3b: Photograph showing enamel hypocalcifica- case of Turner's syndrome. tion in a case of Turner's syndrome.Oral, Craniofacial and Radiographic Features in Noonan and Turner Syndromes 15 4. 1/Mp, the angle between the long axis of Cephalometric analysis: Figures (6&7) and the lower incisors and their mandibular tables (1&2) show the following: base was found to be significantly higher On the lateral head films: than that of the control group, indicating 1. The Sella articular (S-Ar) measurement an increase in lower anterior labio- was found to be significantly lower than inclination. that of the control group, indicating that Postero-anterior head films showed sig- Noonan syndrome patients share the nificant decrease in maxillary width (J-J same Turner syndrome feature. measurement) than in the control group. 2. The sella nasion (S-N) measurement rep- Noonan syndrome: resenting the anterior cranial base length Genetics: Studies of 10 cases of Noonan was found to be significantly lower than syndrome showed dominant inheritance that of the control group. from mother to three daughters in one 3. - posterior nasal spine (A`-PNS) meas- family (Fig. 8). Positive consanguinity was urement, which reflects the maxillary found in 2 sporadic cases. base length, was significantly lower than Oro-dental evaluation showed that that of the control group, i.e. Noonan tongue abnormalities including partial syndrome patients share the same Turner ankyloglossia (Fig. 9), geographic tongue, syndrome feature in this respect. bifid tip of the tongue, macroglossia and 4. Condylon gnathion (Cd-Gn) measure- fissured tongue were found in 90% of pa- ment representing the effective mandibu- tients; high arched palate, thick lips, crown lar length was found to be significantly formation abnormalities (enamel hypopla- lower than that of the control group. sia and hypocalcification, microdontia and 5. SNB angle which represent the antero- delayed crown completion) were found in posterior position of the mandibular base 60% of patients; root formation abnormali- in relation to the cranium was found to ties (delayed root completion and stunted be significantly lower than that of the roots) were found in 50% of the cases and control group, indicating posterior posi- malocclusion (anterior open bite, wide over- tion of the mandible (retrognathia). jet, deep overbite, crowding, spacing and 6. Mp/SN angle which represent the rotation cross bite) were found in 40% of cases. angle of the mandible in relation to the Other abnormalities were also found in cranial base was found to be significantly smaller percentages such as jaw abnormali- higher than that of the control group, ties (in the form of thick alveolar ridges and indicating posterior rotation of the prominent median palatine raphe) (30%), mandible. partial anodontia (30%), retained primary 7. MMA angle which represents the angle teeth (20%), delayed eruption of permanent between the mandibular and maxillary teeth (20%), microstomia (20%), and labial planes (vertical jaw relation) was found to frenum abnormalities (20%) (Table 1). R Fig. 4: Panoramic radiograph showing missing upper lateral incisors and a wide maxillary sinus in a case of Fig. 5: Photograph showing anterior open bite and a Turner's syndrome. thick labial frenum in a case of Turner's syndrome.16 Temtamy et al. Angular measurements. 1. SNB 2. SNA 3. ANB 4. PP-SN 5. MP-SN 6. MMP 7.1/pp 8. 1/1 9. 1/MP 10. NS-Ar N 11. SArGo S 1 10 ? 5 3 Linear measurements A' ANS 4 PNS A S-N S-Ar 6 N-A N-B Ba Cd-Gn B Fig. 6: Tracing showing used lateral cephalometric measurements. 1. Maxillary width (J-J). 2. Mandibular width (Go-Go). Eu 7 Eu 3.Nasal width (N.C.-N.C.). 4. Intrerorbital width (Mo-M0). Mo 5. Orbital width (Mo-Lo). 4 Mo 5 Lo 6. Maximum head height (V-Me). Lo 6 7. Maximum head width (Eu-Eu). N.C 3 N.C 8. Maxillary mandibular transverse relation. J J 1 8 Go 2 Ag Ag Fig. 7: Tracing showing used an- tero-posterior cephalometric measurements. MeOral, Craniofacial and Radiographic Features in Noonan and Turner Syndromes 17 Table (1) Lateral cephalometric measurements in studied groups. Measurement Gp I (n=10) Gp II (n=8) Gp III (n=10) N-S 71.7 ± 4.1a 65.9 ± 3.8b 70.1 ± 3.9ab p value* = 0.015 N-A 59.0 ± 4.7 55.3 ± 6.0 58.3 ± 4.7 p value* = N.S. N-B 100.4 ± 10.0 98.9 ± 9.8 101.2 ± 12.3 p value* = N.S. S-Ar 36.0 ± 3.6a 29.1 ± 2.6b 30.1 ± 4.6b p value* = 0.001 A`-PNS 50.3 ± 1.6a 44.1 ± 1.4b 46.8 ± 3.8b p value*18 Temtamy et al. Fig. 8: Pedigree of Noonan syndrome females. Fig. 9: Photograph showing partial ankyloglossia in Cases No 3, 4, 9, 10 Noonan syndrome. Table (2) Postero-anterior cephalometric measurements in studied groups. Measurement Gp I (n=10) Gp II (n=8) Gp III (n=10) Maxillary width 66.7 ± 3.3a 60.4 ± 3.2b 60.1 ± 3.6b p value*Oral, Craniofacial and Radiographic Features in Noonan and Turner Syndromes 19 be significantly higher than that of the represent the antero-posterior position of control group, indicating increased ante- both maxillary and mandibular bases, rior facial height. respectively, in relation to cranium, the Postero-anterior head films showed: present results coincide with the suggestion 1. Maxillary width (J-J measurement) was of Hussein et which showed that SNA significantly lower than in the control and SNB angles of patients with Turner syn- group. drome were lower than those of normal 2. Bi-Gonial width (Go-Go) was signifi- subjects, and they revealed that this reduc- cantly lower than in the control group tion was due to the changes found in S-N, indicating smaller mandibular width. thus the surface appears to be rotated poste- riorly and retrognathic. DISCUSSION found that the maxilla and the Turner Syndrome mandible were retrognathic and posteriorly Oro-dental evaluation showed high inclined in relation to the cranial base, arched palate which agrees with the results which could be related to the altered shape of Lemli and who found that high of the cranial base. arched palate was one of the main somatic By using cephalometric measurements anomalies of the head and neck in Turner for patients with Turner syndrome, Filipson and Horowitz and et found that all head measurements who found that palatal index showed an within the cranial base were significantly increase in all XO patients. lower than those of normal subjects; the By panoramic radiographs we noted that present findings tend to agree with their wide maxillary sinuses occurred in 80% of findings. patients which coincides with the results of Noonan syndrome Rzymski and Kosowicz(15), who found ex- The observed oro-dental abnormalities of cessive development and pneumatisation of Noonan syndrome could not be found in paranasal sinuses in Turner syndrome and the available literature, since the oro-dental Temtamy et who found widened findings described in the literature for maxillary sinuses in Turner syndrome. Noonan syndrome were limited. Ogiuchi et al.,(14) using pantomograms, High arched palate was found in 80% of cephalograms and study dental casts, found patients and malocclusion (anterior open that small tooth crown size and short tooth bite, wide overjet, deep overbite, crowding, roots were characteristics of patients with spacing and cross bite) were found in 40% Turner syndrome. However, they added that of patients which is in agreement with the the incidence of malocclusion and congeni- results of Collins and who found tal anodontia were not characteristic of pa- that the most frequent oro-dental manifesta- tients with Turner syndrome. tions in 27 cases of Noonan syndrome were On the other hand, as far as is presently high arched palate (80%) and malocclusion known, lip and tongue abnormalities were (50%). The present results agree with their not recorded in the available literature, findings. while they were found in the presented The main oro-dental differences between cases in 70% and 40% of patients respec- Noonan syndrome and Turner syndrome tively. were the presence of wide maxillary sinus in Cephalometric findings showed that the Turner syndrome and tongue anomalies in posterior nasal spine (A`-PNS) measure- Noonan syndrome. ment and the maxillar, width (J-J) measure- According to the available literature on ment findings agree with Ogiuchi, et al.(14), cephalometric measurements, no studies on who found that patients Turner syn- Noonan syndrome patients could be found drome showed underdeveloped maxilla in to compare with the present findings. the forward direction as confirmed by ce- On the other hand, condylon-gnathion phalometric analysis. measurement- (Cd-Gn), which represents the As regards SNA and SNB angles, which effective mandibular length, and gonion-20 Temtamy et al. gonion (Go-Go) measurement which repre- did not significantly differ between Turner sents mandibular width, agree with the clini- and Noonan syndromes. Thus it is cal description of Collins and who, to conclude that hypertelorism in both in a review of clinical and genetic features Noonan syndrome and Tuner syndrome of 27 cases of Noonan syndrome, found was not true bony hypertelorism but is only that micrognathia was one of the most soft tissue telecanthus. frequent oro-dental manifestations in From the above findings patients with that syndrome. studies proved to be important in the diag- Chery et found that hypertelorism nosis of Noonan syndrome with some phen- was one of the main features of facial dys- otypic overlap and differences from Turner morphism (92%) in patients with Noonan syndrome. However these findings need to syndrome. In the present study, it was be confirmed by further studies of a larger found that the interorbital width (Mo-Mo) number of cases. REFERENCES 1. Abd-El-Salam, M. and Temtamy, S.A.: Familial Proc. Egypt Acad. Sci., 39 : 227, 1989. Turner phenotype. J. Pediatr., 74 67, 1969. 10. 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