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Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
199 
 
 
CRANIOFACIAL ASPECTS IN TURNER SINDROME 
 
 
Dana Maria Albulescu 1 , Preda Smaranda Adelina2 , Alexandru Dragos Ovidiu3 , Mihaela 
Jana Tuculina2, Ruxandra Voinea-Georgescu4, Bugala Narcis Mihaita5 
 
1 Faculty of Medicine, University of Medicine and Pharmacy Department of Human Anatomy, Craiova, Romania 
2 Faculty of Dental Medicine, University of Medicine and Pharmacy of Craiova Department of Odontology, 
Craiova, Romania 
 3 Faculty of Medicine, University of Medicine and Pharmacy of Craiova Department of Medical Informatics and 
Biostatistics, Romania 
4 University Titu Maiorescu of Bucharest, Faculty of Dental Medicine, 67A Gheorghe Petrascu Str., 031593, 
Bucharest, Romania 
 5 Faculty of Medicine, University of Medicine and Pharmacy of Craiova Department of Medical Informatics and 
Biostatistics, Romania 
 
* Corresponding Author : 
 Ruxandra Voinea Georgescu - ruxi0372@yahoo.com 
 
 Contribution Note: All the authors equally contributed to the drawing up of the present paper. 
 
Abstract: Our study shows craniofacial morphological abnormalities in Turner syndrome by analyzing linear and 
angular variables calculated on cephalometry. Craniofacial aberrant aspects are found in reduction of the posterior 
base of the skull, mandibular and maxillary shortening, mandibular and maxillary retrusion. The values obtained by 
us are within the specific profile of this pathology, also reported to the specialized studies in the field, even if we were 
limited by the small number of cases, but we can affirm the importance of cephalometry in highlighting the craniofacial 
morphological features in Turner syndrome. 
Keywords: cephalometry, Turner syndrome 
 
1. INTRODUCTION 
Craniofacial morphology is influenced by 
various circulating hormones [1], however, 
growth hormone is particularly important for 
normal craniofacial development [2,3]. 
 In addition to growth hormone, the effects of 
Turner syndrome on craniofacial morphology 
are also known, with studies revealing these 
changes. Craniofacial morphometry studies 
in girls with Turner syndrome show different 
changes in certain anthropometric variables, 
in the sense of reduced values compared to 
normal developmental norms of children at 
different stages of childhood and adolescence 
[4,5,6]. 
This paper aims to analyze some 
cephalometric variables in girls with Turner 
syndrome, to compare the results with the 
normal mean values from existing studies and 
to compare them with the mean values of the 
groups with this condition described in the 
literature.[7,8,9] 
Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
200 
 
 
2. MATERIAL AND METHOD 
The study group was performed on 11 
patients known to have Turner syndrome. All 
children were selected from the 
endocrinology department of SCJU, data on 
general characteristics were collected and 
processed from the medical records of these 
patients. In addition, we obtained informed 
consent from the legal representatives of all 
subjects. 
Measurements were made manually by a 
single investigator. 
Cephalometry was performed using a 
Carestream CS 8100SC equipment, the 
examination position being the standard one, 
with perpendicular orientation of the X-ray 
beam on the sagittal plane of the patient. 
 
The anthropometric points identified on the 
cephalometric images taken in the study were 
(fig no.1) 
 
 
Figure 1. Linear variables on cephalometry 
 
 
- Nasion (n) - the most anterior point, 
corresponding to the anterior nasal seam 
- Point A - the last point of the frontal 
contour of the maxilla 
- Point B - the last point of the 
anterior contour of the mandibular body, on 
the midline 
 - Sella (s) - the rearmost opposite point of 
Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
201 
 
the quadrilateral blade 
- Basal (ba) - the most important point of the 
foramen magnum 
- Gnathion (gn) - lower point of the mental 
union outline 
- Gonion (go) - intersection of the bisector 
of the angle formed by the tangent to the 
lower edge of the jaw and the tangent to the 
posterior edge of the corner 
- Below the spine (ss) - the most concave 
point of the chin 
- Spine (sp) - premaxillary point 
- Posterior nasal spine (pns) - Posterior 
border of maxilla 
- Maxilla (sm) - the most concave point of 
the mandible 
 
The angles measured in our study were (fig. no 2): 
 
 
Figure 2. Angular variables on cephalometry 
 
- SNA - sella-nasion angle at point A 
(subspinals) 
- SNB - sella-nasion angle at point B 
(supramental) 
Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
202 
 
- ANB - angle from point A to point B 
- S-N-Ss - prognathic angle of maxilla 
- S-N-Sm - mandible prognathic angle - has 
the same meaning as SNA and SNB angles, 
- Interincisive angle - between the axes of the 
maxillary and mandibular incisors 
- IMPA angle - between the mandibular 
incisor axis and the plane of the mandible 
- FMA angle - between the Frankfurt 
horizontal plane and the mandibular plane 
- FMIA angle - between the Frankfurt plane 
and the mandibular incisor axis 
 
3. STATISTICAL ANALYSIS 
3.1. Sample Calculation 
Microsoft Excel program (Microsoft Corp., 
Redmond, WA, USA), XLSTAT suite for 
MS Excel (Addinsoft SARL, Paris, France) 
and IBM Statistical Package for the Social 
Sciences (SPSS) Statistics 20.0- Program 
(IBM Corporation, Armonk, NY, USA) were 
used to process the cephalometrically 
measured parameter values. The evaluated 
parameters of the subjects included in the 
study were saved in Excel type files. 
3.2. Statistical Tests 
Secondary data processing, calculation of 
basic statistical parameters, mean and SD of 
their proportions, coefficient of variation, and 
their graphing in Excel using Pivot Tables, 
Function-Statistics commands, Charts and 
Data Analysis modules Executed. Normality 
tests (Shapiro-Wilks and Anderson-Darling) 
and Student's t-tests and analysis of variance 
(ANOVA) tests were performed on the data 
using XLSTAT module commands. 
4. RESULTS 
For subjects with Turner syndrome the results 
of the cephalometric measurements are listed 
in the following tables (Tables 1): 
 
Table 1. Average and SD values of cephalometric measurements in the Turner syndrome 
group 
Variable Average DS 
n-s 62.34 2.37 
s-ba 38.24 3.67 
n-ba 86.23 2.56 
ss-ba 73.82 2.47 
sp-gn 52.32 4.68 
pm-sp 44.67 3.56 
s-pm 42.82 3.64 
pm-ba 37.16 4.82 
pm-ss 41.37 4.38 
gn-go 62.34 3.27 
 
 
Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
203 
 
 
These linear variables represent anterior skull 
base (n-s), posterior skull base (s-ba), total 
skull base (n-ba), maxillary prognathism 
linear measure (ss-ba), anterior face length, 
lower segmental (sp-gn), maxilla length (pm-
ss), mandible length (gn-go), maxillary 
prognathism linear measure (pm-ba); upper 
posterior face height(s-pm). 
The values of the measured angles are given 
in the following table (table 2). 
 
 
Table 2. Mean values of angles and standard deviation in the Turner syndrome group 
Variable Average DS 
SNA˚ 77.58 1.47 
SNB˚ 77.62 3.28 
ANB˚ 3.72 1.75 
ML-NL˚ 22.84 4.26 
s-n-ss˚ 76.87 2.67 
s-n-sm˚ 76.25 3.23 
Interincisal angle 122.3 3.56 
IMPA 89.7 1.47 
FMA 24.7 2.82 
FMIA 73. 2 3.27 
 
We also calculated correlations between different cephalometric variables and between age and 
cephalometric variables. (table 3, table 4) 
 
Table 3. Correlation coefficients between cephalometric variables in the Turner syndrome 
group 
 s-ba n-ba n-s gn-go 
ss-ba 0.356 0.697 0.434 0.136 
s-n-sm -0.017 -0.567 -0.635 0.125 
 
Table 4. Correlation between age and cephalometricvariables in the Turner syndrome 
Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
204 
 
group 
 n-s s-ba n-ba pns-ba ss-ba pm-sp pns-ss s-n-ss s-n-sm gn-go 
age 0.114 0. 712 0.683 0.542 0.592 -0.116 0.018 0.032 -0.317 0.756 
 
 
5. DISCUSSIONS 
Analysis of correlations between 
different linear variables revealed a highly 
significant correlation between total skull 
base and linear measures of maxillary 
protrusion, and with respect to correlation 
with age, mandibular length and total skull. 
There is a very significant correlation 
between base.[10] 
In terms of cephalometric 
measurements, we can analyze skull base, 
lower segment face height, total face height, 
maxillary length, mandibular length and 
maxillary and mandibular prognathism 
angles. As reference values for the 
cephalometric variables, we measured we 
used the Dumancic and Funatsu study [4,5] 
providing information on normal values by 
sex and age for certain cephalometric 
measurements.[11] 
 
 
Table no 5. Normal values of cephalometric variables according to Dumancic and Funatsu 
studies 
Variable 
Normal values 
Dumancic Study Funatsu Study 
 guys girls 
n-s(mm) 63.74 67.5 64.9 
n-ba(mm) 94.35 
s-ba(mm) 39.67 
ss-ba(mm) 84.01 
sp-gn(mm) 57.88 63.9 63.3 
n-sp(mm) 47.87 
pm-sp(mm) 48.20 
s-pm(mm) 42.31 
pm-ba(mm) 39.84 
Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
205 
 
pm-ss(mm) 44.27 44.8 43.9 
gn-go(mm) 65.24 74.7 72.4 
ML-NL˚ 21.32 
s-n-ss˚ 80.94 
s-n-sm˚ 79.37 
 
 
 In the Turner syndrome patient group, 
we observe from the analysis of linear 
variables a reduction in the value of the 
anterior skull base compared to normal 
values [4], but also a reduction of the 
posterior skull base [12,13]. These skull base 
changes are also found in other studies that 
also note reduction of the posterior skull base 
[14,15]. Reduction of the posterior cranial 
base influences the maxillo-mandibular 
skeletal relationships that are affected in this 
pathology [16,17]. Mandible length has a 
reduced value in comparisons with normal 
values, but slightly higher than the reported 
average of 60.7mm [5] . 
 Although the height of the anterior 
surface of the upper segment is normal in the 
Turner syndrome group, a decrease in the 
anterior surface of the lower segment was 
observed, with a mean value of 52.32 mm for 
the group compared with normal values. 
(57.88 mm according to Dumancic's study, 
63.3 mm according to Funatsu's study). The 
height of the posterior surface of the upper 
segment shows a mean value of 42.82 mm in 
our group, with minimal reduction of this 
linear variable in the group of patients with 
Turner syndrome compared to the normal 
value (42.31 mm). 
Regarding the maxillomandibular 
relationship we also measured the ML-NL 
angle with a value of 22.84o this value being 
higher than the average of 21.32o [4] and 
indicates retrognathia of the maxilla 
associated with posterior rotation of the 
mandible. Also, the value obtained by us is 
comparable with the mean value related to 
the maxillomandibular relationship in the 
Turner syndrome group according to 
Dumancic analysis [5]. 
The prognathic angle of the mandible 
and maxilla (SNB and SNA) show reduced 
values in our group compared to standardized 
normal values, i.e., SNB 80° ± 2 SNA 82°±2, 
according to Steiner analysis [8,9] The use of 
cephalometrics as an aid to planning and 
assessing [18,19,20] and demonstrates 
retrognathia of the mandible and maxilla. 
The ANB angle shows a higher 
average value than the normal value, 
according to the Steiner analysis, which 
indicates clockwise rotation of the mandible 
and maxilla. 
Also concerning the prognathic 
angles of the mandible and maxilla, we 
measured the s-n-sm angle with a mean value 
of 76.25°, reduced compared to the 
standardized normal value in the Dumancic 
study (79.37°) and increased by 2° compared 
to the Turner syndrome group in the 
Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
206 
 
Dumancic study. The s-n-ss angle, which 
indicates the angle of prognathia of the 
maxilla, also shows a mean value of 76.87°, 
also reduced compared to the standardized 
normal value and equal to the mean value of 
the Turner syndrome group in the Dumancic 
study. 
IMPA angle as analyzed by Tweed 
Greenstein [16,21] shows an approximately 
normal mean value (890) observed in the 
Turner syndrome group, which means an 
approximately normal mandibular incisor 
position. Considering that this angle is also 
associated with balance and harmony on the 
front of the lower segment, we can conclude 
that the Turner syndrome group exhibits a 
balanced and harmonious face. 
For the FMA angle, the mean values 
of our group are close to normal (24.70versus 
250) demonstrating a discrete closed 
occlusion syndrome. 
The profile of the soft parts is given 
by the FMIA angle values higher than normal 
in the Turner syndrome group (73.20 versus 
650). 
The interincisal angle in our group has 
a mean value of 122.3°, about 13° lower than 
the normal mean value [22], indicating an 
increase in incisor proclination. 
In fact, craniofacial morphological 
features in Turner syndrome include 
reduction of the posterior skull base, 
retrognathization of the mandible and 
maxilla, posterior rotation of the mandible 
and maxilla, and reduction of mandible and 
maxilla length. 
These aspects are also evident in our 
study even though we were limited by the 
small number of cases, but we can affirm the 
importance of cephalometry in highlighting 
craniofacial morphological features in Turner 
syndrome.[23] 
6. CONCLUSIONS 
1. Cephalometric studies show the 
presence of craniofacial abnormalities in the 
reduction of the posterior base of the skull, 
shortening of the mandible and maxilla, and 
recession of the mandible and maxilla. 
2. Retrognathia of the mandible and 
maxilla is best evidenced by the SNA and 
SNB angle values, which are the basis for the 
analysis of mandible-maxillary relationships, 
easily calculated on the cephalometric image. 
3. The ANB0 angle, which indicates 
the relationship between the maxilla and 
mandible, is lower than the normal value. 
4. The interincisal angle shows low 
values with normal values, confirming the 
presence of Class I or Class II, Division 1 
malocclusions. 
5. Recognizing and calculating these 
cephalometric variables is not only the 
starting point for orthodontic treatment of 
patients with Turner syndrome, but also a 
way to monitor and track treatment progress 
over time. 
 
Funding: This article is supported by internal 
competition no. 26/1107/1 din 07.11.2022 
entitled ”Morphological anomalies of the 
cephalic extremity in children in endocrine 
diseases” on behalf of University of 
Medicine and Pharmacy of Craiova, 
Romania. The Article Processing Charges are 
funded by the University of Medicine and 
Pharmacy of Craiova, Romania. 
Informed Consent Statement: The authors 
obtained from the patient the written 
informed consent for patient information and 
images to be published. 
Romanian Journal of Oral Rehabilitation 
Vol. 15, No.1 January-March 2023 
207 
 
Acknowledgments: none Conflicts of Interest: The authors declare no 
conflict of interest. 
 
 
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