The knee alignment and the foot arch in patients with Turner syndrome

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1 PRACE ORYGINALNE / Original articles Pediatric Endocrinology, Diabetes and Metabolism 211, 17, 3, ISSN X Dorota Trzcińska 1, Elżbieta Olszewska 1, Andrzej Wiśniewski 2, Katarzyna Milde 3, Marcin Madej 1 Department of Corrective Movement Exercise, The Joseph Pilsudski University of Physical Education in Warsaw, Poland Zakład Korektywy Akademii Wychowania Fizycznego Józefa Piłsudskiego w Warszawie 2 Department of Physiology, The Joseph Pilsudski University of Physical Education in Warsaw, Poland Zakład Fizjologii Akademii Wychowania Fizycznego Józefa Piłsudskiego w Warszawi 3 Department of Computer Science and Statistics, The Joseph Pilsudski University of Physical Education in Warsaw, Poland Zakład Informatyki i Statystyki Akademii Wychowania Fizycznego Józefa Piłsudskiego w Warszawie 138 Abstract Address for correspondence Dorota Trzcińska PhD Zakład Korektywy, Akademia Wychowania Fizycznego Józefa Piłsudskiego ul. Marymoncka Warszawa, Poland phone: (+48 22) dorota.trzcinska@awf.edu.pl Introduction: It is established that patients with Turner syndrome (TS) have numerous defects of the skeletal system, including in the lower extremities structure. However, there are not enough studies in the literature about knee alignment and foot arches in girls and women with TS. Aim of the study: Assessment of knees and feet in girls and women with TS. Material and methods: Sixty-two girls and women with TS were examined. The mean chronological age of the patients was 15.61±5.27 years, ranging from 6.36 to 27.4-years-old. All patients underwent physical examinations of their knees and feet. Additionally, almost 7 (n=42) underwent plantographic examinations and measurement of their heel angle and Clarke s angle. The formation of the foot in patients with TS was related to the reference values developed on the basis of studies of healthy girls (n=92). In women whose knee conditions were assessed only on the basis of a physical examination, a drawer test was performed each time to assess the stability of the knee ligament systems. Results: In over 6 of patients with TS, incorrect knee alignment, primarily in the form of genu valgum (knock-knee), was diagnosed. At the same time, 6 of the patients tested only in physical examinations were diagnosed with knee ligament instabilities (positive drawer test). Physical examinations showing foot arch malformation in equal proportion splay-foot and low-arched were found in almost two-thirds of women with TS. However, on the basis of plantography, abnormalities in the longitudinal arch of the foot were diagnosed in 6 of patients with TS, and abnormalities in the transverse arch of the foot were diagnosed in 8 of patients with TS. Conclusions: In patients with TS, the occurrence of the following is characteristic: 1. Genu valgum of knees and heels; 2. Frequent cases of abnormally formed longitudinal and transverse arches of the foot, with the longitudinal arch of the foot usually being reduced, while the transverse arch is excessively elevated; 3. Asymmetry involving a frequent occurrence of different types of abnormalities in the arches of the left and right foot, and the possible occurrence of normal knee alignment with an abnormal formation of the feet, or incorrect knee alignment with normal formation of the arches in both feet. The presence of the aforementioned disorders of knee alignment and foot arches authorizes us to recommend a routine assessment of posture, knee alignment, and the arch of the foot in all patients with Turner syndrome and, if irregularities are found, to direct patients for corrective treatment of the musculoskeletal system disorders. KEY WORDS: knee axis, foot arch, platypodia, genu valgum (knock-knee), Turner syndrome Streszczenie Wprowadzenie: U chorych z zespołem Turnera (ZT) stwierdza się obecność licznych wad w obrębie układu szkieletowego, w tym w budowie kończyn dolnych. Jednak w piśmiennictwie brakuje opracowań poświęconych ukształtowaniu kolan i wysklepieniu stóp dziewcząt i kobiet obarczonych ZT. Cel pracy: Ocena stanu kolan i wysklepienia stóp u dziewcząt i kobiet z ZT. Materiał i metody: Zbadano 62 dziewcząt i kobiety z ZT w średnim wieku metrykalnym 15,61±5,27 roku, zakres od 6,36 do 27,4 roku. U wszystkich przeprowadzono badanie przedmiotowe kolan i stóp, a u blisko 7 (n=42) wykonano badanie plantograficzne wyznaczając kąty Clarka i piętowy. Ukształtowanie stóp u chorych z ZT odniesiono do wartości referencyjnych opracowanych na podstawie badania zdrowych dziewcząt (n=92). U kobiet, u których stan kolan oceniano tylko na podstawie badania przedmiotowego każdorazowo przeprowadzano test szufladkowy celem oceny stabilności aparatu więzadłowego stawów kolanowych. Wyniki: U ponad 6 pacjentek z ZT stwierdzono nie ustawienie kolan, przede wszystkim pod postacią koślawości. Jednocześnie u 6 przebadanych wyłącznie przedmiotowo stwierdzono cechy niestabilności aparatu więzadłowego stawów kolanowych (dodatni objaw szufladko-

2 Trzcińska D., Olszewska E., Wiśniewski A. i wsp. wy). Po przeprowadzeniu badania przedmiotowego nie wysklepienie stóp w równych proporcjach płasko-koślawe i obniżone stwierdzono u blisko 2/3 kobiet z ZT. Natomiast na podstawie plantografii zaburzenia wysklepienia podłużnego rozpoznano u 6, a wysklepienia poprzecznego u 8 chorych z ZT. Wnioski: U chorych z zespołem Turnera charakterystyczne są: 1. Występowanie koślawości kolan i pięt; 2. Częste przypadki nieprawidłowo ukształtowanego wysklepienia podłużnego i poprzecznego stóp, przy czym łuk podłużny stopy najczęściej jest obniżony, a łuk poprzeczny nadmiernie wyniesiony; 3. Asymetryczności polegającej na częstej obecności innego typu zaburzenia ukształtowania łuków stopy lewej i odmiennego prawej oraz możliwości występowania go ustawienia kolan i niego ukształtowania stóp lub niego ustawienia kolan i go wykształcenia łuków w obydwu stopach. Występowanie wyżej wymienionych zaburzeń w ustawieniu kolan i wysklepieniu stóp upoważnia do zalecania rutynowego przeprowadzania oceny postawy ciała, ustawienia kolan i wysklepienia stóp u wszystkich chorych z zespołem Turnera, a w razie stwierdzenia nieprawidłowości do kierowania pacjentek na leczenie korygujące wad w obrębie narządu ruchu. SŁOWA KLUCZOWE: oś kolan, wysklepienie stóp, płaskostopie, koślawość, zespół Turnera Introduction The statics of lower limb joints have a significant impact on the cephalocaudal axis and the formation of the vertebral column curves [1, 2]. Meanwhile, based on review of the literature, it is clear that the examination of the foot formation and knee alignment in patients with Turner syndrome (TS) has thus far been rarely studied [3, 4]. The small number of publications on the musculoskeletal system of patients with TS is astounding, as it has already been pointed out in an article published in 21, which discusses the problems of posture in TS [5]. It turns out that by 21, the results of just two studies on the prevalence of faulty posture in TS had been published. In the first one, 25 patients were examined, and in the other, 43 patients [3, 4]. The scant interest in the musculoskeletal system in patients with TS is incomprehensible when we consider the fact that, from the moment of clinical separation of TS in 1938, defects within the skeletal system have been recognized as one of typical symptoms of the disease [6-1]. The belief that musculoskeletal system disorders in patients with TS may occur comparatively frequently was an incentive to undertake the research. The results of the research are presented in the aforementioned publication from 21; however, the publication presents only the results of research on the incidence of faulty posture in patients with TS, and concludes with a call for a systematic examination of the musculoskeletal system in all patients with TS [5]. Because, as mentioned above, disorders in the joints of the lower limbs may contribute to intensification of faulty posture in the TS, it was considered advisable to carry out studies on knee alignment and foot arches in patients affected by TS, the results of which are presented in this publication. Aim of the study The aim of this study is to examine the state of knee and foot formation in girls and women with Turner syndrome. Material and methods Sixty-two girls and women with Turner syndrome were examined. The mean chronological age was 15.61±5.27 years in a range of 6.36 to 27.4-years-old. Measurements were carried out in laboratories of the Clinic of Children s Memorial Health Center (Centrum Zdrowia Dziecka CZD) in Warsaw (group number 1, n=2, the Joseph Pilsudski University of Physical Education in Warsaw, Poland, in the framework of research topic Ds.15; the researchers: M.M. and A.W.) and during a summer camp organized by Turner Syndrome Support Association (group number 2, n=42, researchers: D.T. and E.O., from the Joseph Pilsudski University of Physical Education in Warsaw, Poland). The study was conducted only in those patients with a confirmed diagnosis of Turner syndrome (TS) based on the results of cytogenetics (karyotyping). Karyotyping of patients from group No. 1 was carried out at the Department of Genetics of CZD. To assess the nature of chromosomal aberrations, peripheral blood lymphocytes culture was used, 1 metaphase plates ware counted, and 6 to 1 were analyzed. Half of the respondents from group No. 1 had monosomy 45, X (n=1); in 25 (n=5) the presence of two cell lines had been found (45,X/46,XX; 45,X/46,X, i(xq); 45,X/46,X, del(xp)); 2 (n=4) had izochromosome for the long arm (46, X, i(xq)); and in one case deletion of the short arm (46, X, del (Xp)) had been discovered. In the case of patients enrolled in group No. 2, researchers checked only whether the results of karyotyping were in the medical records, and whether the diagnosis of TS could be confirmed based on the records. In this group of patients, cytogenetics was carried out at various national centers of genetics during the process of diagnosing the causes of growth disorders. The monosomy 45,X had 59 (n=25) of patients from the second group; the presence of two cell lines (45,X/46, X, i (Xq), 45,X/47, XXX; 45,X/46, XX,45, X/46, X, f (Y)) had been found in 31 (n=13); and nearly 1 (n=4) had structural aberrations of izochromosome in the form of the short arm (p) or the long arm (q). All patients enrolled in the study were subject to an evaluation of their knee alignment and their foot arches based on a physical examination. Additionally, patients from group No. 2 underwent plantography an assessment based on taking and then analyzing footprints. In subjects from group No. 1, knee stability was estimated by the drawer test [1]. In the patients who underwent plantographic assessment, the Clarke s angle and the heel angle were set, separately for the right and left foot [12]. 139

3 Trzcińska D., Olszewska E., Wiśniewski A. et al. Pediatric Endocrinology, Diabetes and Metabolism 211, 17, 3 Both, the physical examination and the plantographic assessment were performed in the same static conditions, i.e. in a standing position with self-weight loaded on the lower limbs. Normal knee alignment, as well as genu valgum (knockknee), and genu varum (bow-leggedness), were diagnosed in the enrolled research patients based on a physical examination. Based on the same examination, the normal, low-arched, and high-arched formations of the patients feet were identified. The drawer test was performed (fig. 1) in the classic manner: the researchers (M.M., A.W.) grasped the patient s proximal tibia with both hands and, using their fingers, they pushed downwards. Both knees were tested. Any palpable or visible bone dislocation (drawer motion) was considered an abnormal symptom, indicative of an excessive laxity of the knee ligament system. The types of longitudinal foot arch and transverse foot arch were determined based on the result of plantographic assessment. The Clarke s angle was used as an indicator for the evaluation of the longitudinal foot arch. For diagnosing the transverse foot arch, the heel angle was measured (fig. 2) [12]. Normal values for the Clarke s angle were considered in intervals from 42 to 54 [12]. Higher values of the Clarke s angle indicate a high-arched foot in the longitudinal dimension. Lower values of the Clarke s angle (<2 ) indicated a diagnosis of longitudinal flatfoot. In turn, the range of 15 to 18 represents normal heel angle values. A heel angle value greater than 18 resulted in a diagnosis of transverse flatfoot. In the case of a value lower than 15, the high-arched foot in transverse dimension was diagnosed [2]. The ranges of values of the two measured angles correspond with the different types of the foot arches shown in table I [12]. The mean values of the Clarke s angle and the heel angle in patients with TS were compared with the normative data, relevant for healthy 16-year-old girls (control group, n=92) [13]. The chronological age of girls from the control group was considered to assert the conclusion that the process of formation of foot arches was completed among the group members [14]. Table I: Plantography the classification of types of foot arch based on the measurements of the Clarke s angle and the heel angle Tabela I: Plantografia klasyfikacja typów wysklepienia stóp na podstawie pomiarów kątów Clarka oraz piętowego Type of longitudinal arch of the foot Typ wysklepienia podłużnego stopy Values of the Clarke s angle, degrees Wartości kąta Clarka, stopnie high-arched foot nadmierne (stopa wydrążona) >54 normal / prawidłowa low-arched foot / obniżona 2-41 longitudinal flatfoot płaskostopie podłużne <2 Type of transverse arch of foot Typ wysklepienia poprzecznego stopy values of the heel angle wartości kąta piętowego high-arched foot wysokie wysklepienie >15 normal / transversal flatfoot płaskostopie poprzeczne <18 Fig. 1. Ryc. 1. The method of conducting the drawer test Sposób przeprowadzania testu szufladkowego Table II: Plantography Table values of the Clarke s angle and the heel angle (mean±sd) in patients with Turner syndrome and girls with the reference groups (GR) Tabela II: Plantografia: wartości kątów Clarka i piętowego (średnie±sd) u pacjentek z zespołem Turnera i dziewcząt z grupy referencyjne (GR) The Clarke s angle, degrees Kąt Clarka, stopnie The heel angles, degrees Kąt piętowy, stopnie x±sd range zakres x±sd range zakres ZT, n= ± ± GR, n= ± ± Results 14 Fig. 2. Ryc. 2. The method of determining the Clarke s angle (ABC) and the heel angle (γ) Sposób wyznaczania kąta Clarka (ABC) i kąta piętowego (γ) The mean chronological age (CA) of all patients was 15.61±5.27 years in a range of 6.36 to 27.4-years-old. In group No.1 and group No. 2, the mean CA was 11.6±5.2 years,

4 Trzcińska D., Olszewska E., Wiśniewski A. i wsp The type of knee alignment, n=62 typ ustawienia kolan, n= The type of foot arch, n=62 typ wysklepienia stóp, n= normal / prawidłowy n=22 knock-knee, koślawość, n=39 bow-leggednes, szpotawość, n=1 5 normal n=23 low-arched foot obniżone n=19 splay-foot płasko-koślawe n=19 hight-arched foot wydrążone, n=1 Fig. 3. Ryc. 3. Orthopedic assessment the percentage of each type of knee alignment in patients with Turner syndrome Ocena ortopedyczna odsetek poszczególnych typów ustawienia kolan u pacjentek z zespołem Turnera Fig. 4. Ryc. 4. Orthopedic Assessment the percentage of particular types of foot arch in patients with Turner syndrome Ocena ortopedyczna odsetek poszczególnych typów wysklepienia stóp u pacjentek z zespołem Turnera * normal, high-arched foot, nadmierne Turner syndrome / zespół Turnera, n=42 healthy girls / zdrowe dziewczęta, n=92 low-arched foot / obniżone longitudinal flatfoot, płaskostopie podłużne *** feet asymmetry, asymetria stóp *** normal, Turner syndrome / zespół Turnera, n=42 healthy girls / zdrowe dziewczęta, n=92 high arched foot, wysokie transewrsal flatfoot, płaskostopie poprzeczne *** feet asymmetry, asymetria stóp Fig. 5. The occurrence of particular types of longitudinal foot arch in patients with Turner syndrome and girls from the reference group Ryc. 5. Występowanie poszczególnych typów wysklepienia podłużnego stóp u pacjentek z zespołem Turnera i dziewcząt z grupy referencyjnej Normal, low-arched, high-arched, the longitudinal flatfoot percentage of patients with a symmetrical type of longitudinal foot arch in both feet; feet asymmetry the percentage of patients with different types of longitudinal foot arch in both feet / Prawidłowe, obniżone, nadmierne, płaskostopie podłużne odsetek pacjentek, u których ten sam typ wysklepienia podłużnego stwierdzono w obu stopach; asymetria stóp odsetek pacjentek, u których dla każdej stopy stwierdzono inny typ wysklepienia podłużnego * normal foot arch occurs significantly less frequently in patients with Turner syndrome than in healthy girls; p <.5 / Prawidłowe wysklepienie stóp występuje znamiennie rzadziej u pacjentek z zespołem Turnera niż u dziewcząt zdrowych; p <,5 *** asymmetry in type of foot arch is significantly more common in patients with Turner syndrome than in healthy girls; p <.1 / asymetria typu wysklepienia stóp występuje znamiennie częściej w zespole Turnera niż u dziewcząt zdrowych; p <,1 Fig. 6. Ryc. 6. The occurrence of particular types of the transverse foot arch in patients with Turner syndrome and girls from the reference group Występowanie poszczególnych typów wysklepienia poprzecznego stóp u pacjentek z zespołem Turnera i dziewcząt z grupy referencyjnej Normal, high-arched, transverse flatfoot the percentage of patients with symmetrical type of transverse foot arch in both feet; feet asymmetry the percentage of patients with a different type of foot arch in both feet; feet asymmetry the percentage of patients with a different type of the transverse foot arch / Prawidłowe, wysokie, płaskostopie poprzeczne odsetek pacjentek, u których ten sam typ wysklepienia poprzecznego stwierdzono w obu stopach; asymetria stóp odsetek pacjentek, u których dla każdej stopy stwierdzono inny typ wysklepienia; asymetria stóp odsetek pacjentek, u których dla każdej stopy stwierdzono inny typ wysklepienia poprzecznego ranging from 6.36 to years-old, and 17.2±3.27 years, ranging from to 27.4-years-old, respectively. The results of orthopedic evaluations are shown in figures 3 and 4, while figures 5 and 6 present the results of plantographic assessment. A percentage of patients with different types of knee alignment are illustrated in Figure 3, while the variation of the foot arch is illustrated in figure 4. In 6 (n=12) of the patients from group No. 1, positive results of the drawer test had been noticed during the physical examination. The percentage of patients who were diagnosed on the basis of plantography with different types of longitudinal foot arch and transverse foot arch are shown in figures 5 and 6. Discussion Given that over one-third of the patients enrolled in group No. 1, and all the patients in group No. 2, were 14-years-old, it was assumed that the formation of the arch of the feet and the alignment of the knees were already completed. Based on the results of research found in the literature, it was also recognized that it is acceptable to similarly treat those patients from group No.1 who, on the day of orthopedic assessment, were at least 11-years-old (the CA of one-third of the patients from group No.1 ranged from 11 to 14-years-old) [14]. Therefore, the results of both the physical examination and the plantography are treated as data fully reflecting the state of 141

5 Trzcińska D., Olszewska E., Wiśniewski A. et al. Pediatric Endocrinology, Diabetes and Metabolism 211, 17, the knee alignment and the foot arches in a population with Turner syndrome (TS). Knee alignment In more than 6 of patients, the valgus knee alignment (knock-knee) was found in the coronal plane, and normal knee alignment in only one-third of the respondents. The varus knee (bow-leggedness) was diagnosed in only one case. Therefore, it was concluded that in patients with TS, it is necessary to routinely check knees for genu valgum, just as it is a routine to check for the presence of the cubitus valgus (turned-in elbows) [15-17]. Additionally, it was noted that the frequent prevalence (6 in group 1, n=2) of a positive result of the drawer test might indicate the instability of knee ligaments. On the basis of the researchers own clinical experience, knee ligament instability leads, in some cases of patients with TS, to disorders requiring surgical treatment. Therefore, it was concluded that further research should be conducted into the incidence of abnormalities within the knee joints of patients with TS. Also, routinely conducting the drawer test in all patients with TS was strongly recommended. Foot arch assessment in physical examinations Based on physical examination, the foot arch in more than half of the patients was diagnosed as abnormal (fig. 4). Only one case was diagnosed with high-arched foot, while the remaining patients were diagnosed with low-arched foot or splay-foot. It is worth mentioning that both conditions low- -arched foot and splay-foot were diagnosed equally frequently. The existence of such a significant incidence of the abnormal formation of the foot arch was considered an important reason for performing routine orthopedic examinations in all patients with TS. The prevalence of the particular types of foot arch in patients diagnosed with the valgus knee malalignment (nearly 63 of all respondents), or with the normal knee alignment (slightly over 35 of all respondents), is shown in figure 7. In figure 7, the various knee alignments are not included, as their occurrence in patients with TS seems to be occasional (one case among 62 patients). The same reasoning concerns a single case of occurrence of a high-arched foot it is not presented here. Regardless of the type of knee alignment, it has been shown that in physical examinations, patients with TS are most commonly diagnosed with a low-arched foot. It was also found that, significantly more often, the foot arch is normal (p <.1) in patients with normal knee alignment than in cases with the valgus knee malalignment. It has also been observed that a splay-foot is present significantly more often (p <.5) in patients with the valgus knees alignment, than in those whose knee alignment was considered normal. Foot arch assessment on the basis of plantography As mentioned, the results of plantographic assessment in patients with TS were compared with normative data developed from measurements of the heel angle and the Clarke s angle in healthy girls (GR, n=92). Following Demczuk-Włodarczyk, the thesis that ontogenetic foot development is characterized by a particular specificity ( autonomy ) was assumed Fig. 7. Ryc. 7. genu valgum (knock-knee) / koślawość kolan, n=39 normal knee alignment / ustawienie kolan, n=22 ** normal foot / stopy splay-foot / stopy płasko-koślawe low-arched foot stopy o obniżonym wysklepieniu Correlation between the type of knee alignment and prevalence of normal, splay-foot and low-arched foot W zależności od typu ustawienia kolan częstość występowania go, płasko-koślawego lub obniżonego wysklepienia stóp Genu valgum (knock-knee), n=39 patients with genu valgum condition diagnosed on the basis of physical examination; normal knee alignment, n=22 patients with TS, with normal knee alignment diagnosed on the basis of physical examination / Koślawość kolan, n=39 pacjentki, u których koślawość kolan rozpoznano na podstawie badania przedmiotowego; ustawienie kolan, n=22 pacjentki z ZT, u których ustawienie kolan rozpoznano na podstawie badania przedmiotowego * splay-foot is significantly less frequent in patients with normal knee alignment than in the patients with the knock-knee condition; p <.5 / stopy płasko-koślawe występują znamiennie rzadziej w przypadku go niż koślawego ustawienia kolan; p <,5 ** normal foot arches are significantly more frequent in patients with normal knee alignment than in those patients with Turner syndrome with genu valgum; p <.1 / stopy występują znamiennie częściej u pacjentek z prawidłowym ustawieniem kolan niż u chorych z ZT z koślawością kolan; p <,1 This autonomy manifests itself in, among other factors, the fact that the essential process of foot arch formation ends relatively early, at about the age of 12 [14]. This means that the formation of the arch of the foot ends much earlier than the completion of the growth of the body, and earlier than the skeleton reaches its full maturity. Due to the fact that, among the patients who underwent plantographic examination, the youngest girl at the moment of examination was 14-years-old (as it has already been stressed), it was assumed that in all cases the process of formation of the foot arch was completed, regardless of the chronological age. Therefore, plantographic measurements in all patients with TS were pooled. As it has been already said, the longitudinal and transverse foot arches were determined for both feet on the basis of the measurements of the heel angles and the Clarke s angles. It is worth mentioning that in a quarter of the respondents, the type of longitudinal foot arch in the right foot was different than in the left foot, while for transverse foot arch, asymmetry was found in more than 4 of patients with TS (fig. 8). Such a frequent occurrence of asymmetry in the formation of the right and left foot arches in patients with TS requires both, the doctor and the rehabilitation specialist to be particularly careful when testing and comparing the foot arch of both feet. It was found that the longitudinal foot arch of both feet was normal in only 4 of patients with TS, which is significantly less (p <.5) than in healthy girls (fig. 5). It was therefore concluded that such a high incidence of longitudinal foot arch disorders legitimates the already postulated requirement for a routine assessment of the musculoskeletal system in all patients with TS. The clinical significance of this requirement is reinforced by the fact that nearly one-third of patients with *

6 Trzcińska D., Olszewska E., Wiśniewski A. i wsp. TS examined by means of plantographic assessment were diagnosed with an asymmetric type of foot arch in both feet, and in half of the cases, the longitudinal low-arched foot was observed. Thus, the low-arched foot should be considered a dominant type of abnormality in the formation of the longitudinal arch of the foot among patients with TS, as in total this type of foot arch was found in nearly 4 of the patients (16 out of 42), in one foot or in both feet. It was found that the alignment of the knees (either the valgus knee or normal alignment) has no effect on the prevalence of asymmetric types of the foot arch in the right and left foot (fig. 8). Therefore, it was demonstrated once again that, in clinical practice, significantly manifold types of abnormalities in the arches of feet in patients with TS could be expected. To support this statement it is also worth mentioning that in only one of the 14 cases with the normal knee alignment had at the same time the normal longitudinal and transverse foot arch on the right and left foot at the same time were observed. The specific mosaicism in the occurrence of disorders in the musculoskeletal systems of patients with TS might be evidenced by the fact that, among 28 patients with the valgus knees condition, 5 cases were found with a normal formation of both the longitudinal foot arch and the transverse foot arch. In the remaining patients, significant differences were observed between the left and right foot in the formation of foot arches. It must also be highlighted that as a result of the orthopedic examinations, cases of abnormal formation of the longitudinal foot arch (including low-arched foot, splay-foot, and high-arched foot) were diagnosed in more than 6 of patients with TS, but the results of plantography showed lower numbers of such conditions (fig. 9). It is also worth noticing that through the physical examination of patients Fig. 8. Ryc. 8. all TS patients / wszyskie pacjentki ZT, n=42 genu valgum (knock-knee) / koślawość kolan, n=28 normal knee alignment / ustawienie kolan, n=14 SKC AsKC SKP AsKP Correlation between the type of knee alignment and percentage of patients with symmetrical and asymmetrical types of foot arch in both feet W zależności od typu ustawienia kolan odsetek pacjentek, u których typ wysklepienia stóp jest podobny lub odmienny (asymetryczność) All patients, n=42 all patients with Turner syndrome, examined in plantographic assessment, excluding one patient, who was diagnosed with genu varum condition; SKC and AsKC the percentage of patients diagnosed with symmetry (S) or asymmetry (As) of the Clarke s angle (KC) measured for the left and right foot; SKP and AsKP the percentage of patients diagnosed with symmetry (S) or asymmetry (As) plotted the heel angle (KP) measured for the left and right foot / Wszystkie pacjentki, n=42 wszystkie pacjentki z ZT zbadane plantograficznie za wyjątkiem chorej, u której rozpoznano szpotawe ustawienie kolan; SKC i AsKC odsetek pacjentek, u których stwierdzono symetrię (S) lub asymetrię (As) kątów Clarka wykreślonych dla stopy lewej i prawej; SKP i AsKP odsetek pacjentek, u których stwierdzono symetrię (S) lub asymetrię (As) kątów piętowych wykreślonych dla stopy lewej i prawej normal foot, stopy TS plantography / ZT plantografia, n=42 TS physical examination / ZT badanie przedmiotowe, n=42 high-arched foot / stopy nadmiernie wysklepione * *** low-arched foot / stopy o obniżonym wysklepieniu flatfoot, płaskostopie asymmetry of feet arch, asymetria wysklepienia stóp Fig. 9. Correlation between the method of assessment and prevalence of abnormalities in the foot arch Ryc. 9. W zależności od sposobu oceny częstość występowania zaburzeń wysklepienia stóp Flatfoot in plantography flatfeet can be observed, but the splay-foot condition, i.e. flatfoot accompanied by the valgus angulation of the calcaneus (the heel bone), cannot be diagnosed because footprints did not reveal such a condition; however, this type of disorder was identified in a physical examination / Płaskostopie w badaniu plantograficznym obserwowano płaskostopie, natomiast nie stwierdzono (odbitki nie ujawniły takich obrazów) występowania stopy płasko-koślawe, czyli płaskostopia współistniejącego z wadliwym, tj. koślawym ustawieniem kości piętowej; natomiast ten typ zaburzenia dostrzeżono w badaniu oglądowym * low-arched foot was diagnosed significantly less frequently on the basis of plantography than in a physical examination; p <.5 / obniżone wysklepienie stóp rozpoznawano znamiennie rzadziej na podstawie plantografii niż badania przedmiotowego; p <,5 ** flatfoot was diagnosed significantly less frequently on the basis of plantography than in a physical examination; p <.1 / płaskostopie rozpoznawano znamiennie rzadziej na podstawie plantografii niż badania przedmiotowego; p <,1 *** feet asymmetry, or differences between the type of foot arch in the left and right foot were diagnosed significantly less frequently on the basis of a physical examination than in a plantographic assessment; p <.1 / asymetrię, czyli inny typ wysklepienia stopy lewej i prawej rozpoznawano znamiennie rzadziej na badania przedmiotowego niż podstawie plantografii; p <,1 with TS, classical deformations of feet, such as flatfoot, were not diagnosed, but often, i.e., in as many as one-third of the cases, a splay-foot was diagnosed. This means that in those patients with longitudinal low-arched foot, a co-occurring condition was the valgus deformity of the heel. Therefore, not only the presence of the genu valgum and cabitus valgus, but also the valgus deformity of the heel bone should be considered characteristic of Turner syndrome. While analyzing the formation of the transverse foot arch, such disorders were found in nearly 6 of patients with TS, significantly more than in healthy girls group (p <.1). In as many as over 4 of patients with TS (n=19), a different type of the transverse foot arch in the right and left foot (asymmetry) was frequently discovered. In most cases (84, n=16) the arch in one foot was normally formed, yet it was too high in the other foot (fig. 6). At the same time, it was found that the incidence of the excessively high-arched foot in both feet (symmetrical) did not differ from the general population. However, when considering cases of the occurrence of symmetrical and asymmetrical (in only one foot) high-arched foot together, it was concluded that this form of abnormality in the formation of the transverse foot arch dominates in patients with TS. This type of disorder was diagnosed in total in over 6 of patients with TS: on both feet in more than one-quarter of the patients, and on one foot in approximately 4 of the patients. To sum up this part of the analysis, it was found that in patients with TS, abnormalities in the transverse arch of the ** 143

7 Trzcińska D., Olszewska E., Wiśniewski A. et al. Pediatric Endocrinology, Diabetes and Metabolism 211, 17, foot occurred more frequently than the deformation of the longitudinal arch of the foot. Meanwhile, a similar trend was not seen among the girls from a healthy control group. It should be emphasized that based on the results of cohort studies, other authors presented different conclusions [14]. Demczuk-Włodarczyk on the basis of findings from research into the formation of foot arch conducted among more than 16 children and adolescents in Wroclaw concluded that the disorders of the transverse foot arch are more common than the deformation of the longitudinal foot arch. Recapitulation As mentioned before, the number of publications on posture and foot arch in individuals with TS is relatively scarce; therefore, it is difficult to compare the results obtained in this study to data presented by other authors. The lack of publications is difficult to explain, as it was repeatedly demonstrated that, in accordance with the principles of mechanical balance and ascending compensation, incorrect alignment of the knees and/or the foot arch may adversely affect the alignment of the pelvis, and through it, influence the curvature of the spine in the frontal, sagittal, and transverse planes. Analyzing the gathered material, it was found that a considerable proportion of girls and women with TS examined during this study were observed to have knee alignment disorders and/or disorders of the arches of the feet. Although some patients showed no such problems, it was concluded that it is reasonable to recommend in the care of patients with TS a systematic control of posture, knee alignment, and the foot arch. Special attention from the parents of the girls with TS, the doctors of the patients, as well as the rehabilitation specialists, is required in the cases of high-arched foot. This deformation in lower limb development is considered special because of the lack of clear and unambiguous findings about the ways to correct it. Among the patients examined, the presence of a high-arched foot on both feet was diagnosed in two cases, and six patients were found to have the high-arched deformation on one foot. In conclusion, it was found that in patients with TS, compared to the group of healthy girls, abnormalities in both the transverse and longitudinal foot arch in the form of symmetrical deformation which means the same type of formation for the right and left foot occur at a similar rate. However, the specific disorder for Turner syndrome are, as it was previously emphasized several times, asymmetrical types of the foot arch in the right and left foot. It should also be mentioned that the presence of disorders in lower limbs and abnormal foot arches are considered to be among the most important factors influencing the worse compared with the healthy girls results achieved by individuals with Turner syndrome in physical fitness tests performed with the participation of the lower limbs [18]. Conclusion In patients with Turner syndrome, the occurrence of the following is characteristic: 1. Valgus deformity of knees and heels. 2. Frequent cases of abnormally formed longitudinal and transverse arches of the foot, with the longitudinal foot arch being usually reduced, and the transverse foot arch excessively elevated. 3. Asymmetry involving the frequent occurrence of different types of abnormal foot arch in the left and right foot, and the possible occurrence of the normal knee alignment with an abnormal formation of the feet as well as abnormal alignment of the knee with the normal formation of both foot arches. The occurrence of aforementioned disorders in the alignment of the knees and the foot arch allows us to recommend the routine assessment of posture, knee alignment, and foot arch in all patients with Turner syndrome and, if irregularities are found, to direct patients for corrective treatment of the musculoskeletal system disorders. The study was supported by the Polish Ministry of Science and Higher Education, under the framework of a research grant of University of Physical Education in Warsaw number Ds.15. The paper was presented during the 1 th Scientific Conference Progress in Assessment of Physical Development Disorders, Warsaw, Poland, 13 May 211. References 1. Buckup K.: Testy kliniczne w badaniu kości, stawów i mięśni. PZWL, Warszawa, Kasperczyk T.: Wady postawy ciała. Diagnostyka i leczenie. Kasper, Kraków, Kim J.Y., Rosenfeld S.R., Keyak J.H.: Increased prevalence of scoliosis in Turner syndrome. J. Ped. 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