J Plast Surg Hand Surg, 2014; Early Online: 1–5 © 2014 Informa Healthcare ISSN: 2000-656X print / 2000-6764 online DOI: 10.3109/2000656X.2014.992904
ORIGINAL ARTICLE
Craniofacial morphology in children with van der Woude syndrome and isolated cleft palate Arja Heliövaara1, Rekina Karhulahti2 & Jorma Rautio1 1
Cleft Palate and Craniofacial Center, Department of Plastic Surgery, Helsinki University Central Hospital, Helsinki, Finland and City of Vantaa Health Care, Dental Care Department, Vantaa, Finland
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2
Abstract Objective: To compare cephalometrically 6-year-old children with van der Woude syndrome and cleft palate (VWS) to children with isolated cleft palate alone (CP). Design: A retrospective case-control study. Patients and setting: Forty-four children with VWS were compared to 73 children with CP using lateral cephalograms. The mean age of the children with VWS was 6.6 years (range = 5.9–8.2) and that of the children with CP, 6.2 years (range = 5.7–6.7). Palatal closure had been done at a mean age of 1.4 years (range = 0.8–2.2), mostly with the Veau-Wardill-Killner or the Cronin pushback surgical techniques. The data was collected over a 30-year period. Main outcome measure: Linear and angular measurements were obtained from lateral cephalograms. A Student’s t-test was used in the statistical analysis. Results: The craniofacial morphology in children with VWS and CP was similar, but those with VWS had slightly smaller diameters of the lower pharyngeal airway. The maxilla and mandible were well related to each other, although a little retrusive in relation to the cranial base. The soft tissue profile reflected the skeletal relationships, no significant protrusion of the lower lip was noted. Conclusions: Six-year-old children with VWS and CP have similar craniofacial morphology. Key Words: van der Woude syndrome, cleft palate, cephalometry
Introduction Van der Woude syndrome (VWS) is a dominantly inherited syndrome characterised by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate [1]. With a prevalence of 1 in 100,000 to 1 in 40,000 stillborn or live births [2,3], VWS is one of the most common cleft syndromes. The lip pits are classically symmetrical bilateral paramedian sinuses on either side of the midline of the lower lip, but may also be asymmetrical, unilateral, or medial [4]. They are usually asymptomatic, although continuous or intermittent drainage of watery or salivary secretion can occur, and surgical treatment may be necessary. VWS is frequently associated with other anomalies such as hypodontia, syndactyly of the hands, ankyloglossia [5], and congenital heart disease [6]. Kondo et al. [7] were the first to identify the interferon regulatory factor 6 gene (IRF6) on 1q32-2 to be responsible for VWS. Later, a second VWS gene was found to be assigned to 1p34 by linkage in a large Finnish kindred [8]. Mutations in interferon regulatory factor 6 (IRF6) account for ~70% of cases of Van der Woude syndrome [9]. Mutations in two genes, IRF6 and GRHL3, can lead to nearly identical phenotypes of orofacial cleft. They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS [9]. Dental anomalies and hypodontia are common in children with clefts [10,11]. Hypodontia has been observed in 10–81% of patients with VWS [12-14]. The number of congenitally missing permanent teeth in VWS is reported to be nearly twice that in corresponding control groups [13]. The prevalence of hypodontia in children with VWS and CP was 65.4% (n = 26), and that in
children with VWS and cleft lip and palate (CLP) was 75% (n = 16). For the control groups of children with CP alone, the percentage was 33%, and with CLP alone it was 58.1% [13]. The most frequently missing teeth are the upper and lower second premolars, and upper lateral incisors [13]. In addition, taurodontism has been reported [15]. Of the 13 subjects with VWS, six had at least one tooth with taurodontism [15]. Few studies have examined craniofacial growth in VWS [16,17]. Both demonstrated deficient maxillary growth in individuals with VWS when compared with matched controls. These studies included patients of different ages and with different cleft types. The effect of isolated cleft palate on craniofacial growth is well documented. In patients with CP, the maxilla is short and retrusive in relation to the cranial base [18-23]. Also, the mandible is small and retrusive with an obtuse gonial angle and steep mandibular plane [18-21]. The relationship between the maxilla and mandible is usually satisfactory. After primary palatal repair in early childhood, a proportion of children with cleft palate need secondary operations, mainly because of hypernasal speech. Later, approximately one in eight patients with non-syndromic CP requires orthognathic surgery [24]. The patients with most extensive clefts at birth have been reported to show the most marked deviations in craniofacial morphology [21-23,25]. The skeletal craniofacial morphology is similar in both CP and submucous cleft palate (SMCP), but the soft tissue in patients with SMCP masks the slight skeletal retrusion more [26]. The purpose of this study was to evaluate the craniofacial morphology of children with VWS and cleft palate and to
Correspondence: Dr Arja Heliövaara, Senior Lecturer, Cleft Palate and Craniofacial Center, Department of Plastic Surgery, Helsinki University Central Hospital, PO Box 266, FIN-00029 HUS, Finland. Tel: +358 40 7163817. E-mail: arja.heliovaara@mbnet.fi (Received 24 August 2014; accepted 24 November 2014)
2 A. Heliövaara et al.
Journal of Plastic Surgery and Hand Surgery Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
compare it with the craniofacial morphology of children with CP alone. Both groups were of the same age, and had received the same kind of surgical treatment. We expected that the children with VWS would have more retruded maxillae. An early ability to diagnose deficient maxillary growth is important for optimal planning of type, timing, and length of orthodontic and orthognathic treatment. Materials and methods The patients comprised 44 consecutive children (17 boys) with van der Woude syndrome and cleft palate and 75 children (34 boys) with isolated cleft palate alone who had undergone treatment at the Cleft Palate and Craniofacial Centre, Department of Plastic Surgery, Helsinki University Central Hospital. The mean age of the children with VWS was 6.6 years (SD = 0.7; range = 5.9–8.2), and that of the children with ICP was 6.2 years (SD = 0.2; range = 5.7–6.7). The children with VWS were born between 1968–1999, whereas the children with CP were born between 1981–1985. For all the children, a geneticist or experienced specialists in the Cleft Palate and Craniofacial Centre verified diagnoses of VWS. Diagnosis of VWS was based on clinical findings. Altogether, 15 of the children with VWS and 25 of the children with CP had total clefts of the palate. Five children in the VWS group and five children with CP had operated submucous cleft palates. The submucous cleft palates were diagnosed either clinically or by nasopharyngoscopy. Patients with combined clefts, additional syndromes, non-caucasian ethnicity, and missing lateral radiographs were excluded (12 VWS and 14 CP). The comparability of the groups is shown in Table I. Surgical methods In the VWS group, one-stage hard- and soft-palate closure had been performed at a mean age of 1.3 years (range = 0.8–2.2) with the Veau-Wardill-Kilner or Cronin pushback techniques. These surgical methods, and the comparison of these methods, are described more in detail in another article [23]. In addition, two patients had palatal closure ad modum Bardach, and one ad modum Mendoza. Secondary operations between the ages of 3.4–5.6 years included pharyngeal flaps in six patients, and fistula closure in one. In the children with CP, palatal closure had been carried out at a mean age of 1.5 years (range = 1.0–2.1) using the Veau-Wardill-Kilner or Cronin pushback techniques. Secondary operations between the ages of 3.5–5 years included pharyngeal flaps in eight patients and closure of fistula in one. All submucous cleft palates had been operated on. The techniques for surgical treatment between the ages of 1–4.4 years consisted of palatal closure ad modum Veau-Wardill-Kilner, Cronin or Bardach, and superiorly based pharyngeal flaps ad modum Sanvenero-Rosselli, modified Honig or Hogan. Neither the patients with VWS nor those with CP had received orthodontic treatment. The VWS data were collected over a 30-year period. All of the children were born before year 2000. Since then, the method and timing of the operations have changed. Cephalometric measurements Standardised lateral cephalometric radiographs, taken with the head positioned according to the Frankfort horizontal plane with the molar teeth occluded and the lips in repose, were used. The
Table I. Comparability of the groups of children with van der Woude syndrome and isolated cleft palate (VWS) and with isolated cleft palate alone (CP).
Boys Girls Mean age and range (years)
VWS (n = 44) 17 27 6.6 (5.9–8.2)
CP (n = 73) 34 39 6.2 (5.7–6.7)
Total (n = 117) 51 66 6.4 (5.7–8.2)
same orthodontist traced the cephalograms twice during 1 week with a computer-connected digitiser. The computer was programed to calculate the mean of the two digitalisations, which were to be at an accuracy of 1 mm. If the measurement error for any digitised landmark was larger than 1 mm, the x-ray had to be re-digitised. The reference points and landmarks are shown in Figure 1. Student’s t-test was used in the statistical analysis. Test statistics with p-values equal to or less than 0.05 were considered statistically significant. The research protocol was approved by the Helsinki University Central Hospital. Principles outlined in the Declaration of Helsinki were followed. Results The craniofacial morphology in children with VWS and CP was similar, but those with VWS had slightly smaller diameters of lower pharyngeal airway (posterior airway space, pas1–pas2). The maxilla and mandible were well related to each other, although a little retrusive in relation to the cranial base. The soft tissue profile reflected the skeletal relationships, no significant protrusion of the lower lip was noted. The results are shown in Table II. Discussion Interestingly, no differences in craniofacial morphology between the children with VWS and those with CP were found. It was expected that the children with VWS would have more retruded maxillae, as previous studies [16,17] have demonstrated a few significant differences in maxillary growth between individuals with VWS and matched controls. On the other hand, both of these studies included a relatively small number of patients with VWS combined with different types of clefts. The only significant finding between the VWS and CP children in our study was the slightly smaller posterior airway space in children with VWS. This may be related to the syndrome, surgical factors or a mere coincidence. Kane et al. [16] compared cephalometrically 17 individuals with VWS and matched controls in a cross-sectional and longitudinal study with age groups of 5-, 7-, 9-, 11- and 13-year-olds and older. They found the anteroposterior maxillary length (described by the anterior nasal spine posterior maxillary point distance) to be shorter in the oldest age group with VWS. In addition, the longitudinal growth analysis showed a more inferior vertical position of the B point (the deepest point on the anterior contour of the mandibular alveolar arch) in the controls. The soft tissue measurements of the individuals with VWS showed significantly greater protrusion of the lower lip over several age ranges.
Craniofacial morphology in VWS and CP
3
n
N S
CD
Journal of Plastic Surgery and Hand Surgery Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
BA
S0
ad2 ad1
AR
prn PM
ANS sn
A
a PR
Is Ii
ID pas
B
GO
b
HY′ POG ME
GN
pog
HY
Figure 1. Cephalometric landmarks. Abbreviations, full names and definitions. Skeletal landmarks: A (Point A) = deepest point on the anterior contour of the maxillary alveolar arch; ANS (Anterior nasal spine) = tip of anterior nasal spine; AR (articulare) = intersection between the external contour of the cranial base and the dorsal contour of the mandilble; B (Point B) = deepest point on the anterior contour of the mandibular alveolar arch; BA (Basion) = most inferior point of the clivus of the occipital bone; CD (Condylion) = most posterior and superior point on the condylar head; GN (Gnathion) = most anterior and inferior point of bony chin; GO (Gonion) = intersection between the external contour of the mandible and the bisector of the angle between the ramus line and mandibular line; HY (Hyoid) = most anterior and superior point of hyoid bone; HY’ (projection point of HY) = perpendicular distance of point HY on the mandibular line; ID (infradentale) = the highest anterior point on the gingiva between the mandibular central incisors; ME (Menton) = most inferior point on mandibular symphysis; N (Nasion) = most anterior point on the nasofrontal suture; PM (Pterygomaxillare) = intersection between nasal floor and the posterior contour of maxilla; POG (Pogonion) = most prominent point of the bony chin; PR (Prosthion) = the most anterior point on the maxillary alveolar process, between maxillary central incisors; S (Sella) = centre of sella turcica. Soft tissue landmarks: a (soft tissue point a), deepest point on the soft tissue contour of the upper jaw; ad1 = intersection of the line PM-BA and the posterior nasopharyngeal wall; ad2 = intersection of the line PM-so and the posterior nasopharyngeal wall; b (soft tissue point b) = deepest point of the soft tissue contour of the lower jaw; li (labrale inferior) = most anterior point of the lower lip; ls (labrale superior) = most anterior point of the upper lip; n (soft tissue nasion) = most concave point in the tissue overlying the area of the frontonasal suture; pas (posterior airway space at gonion level) = sagittal depth of pharynx on the line through points B and Go; pog (soft tissue pogonion) = most anterior point of soft tissue chin; sn (subnasale) = point at which columnella merges with upper lip; so = midpoint of the distance from points S to BA. Lines: ML (mandibular line) = tangent to the lower border of mandible through ME; NSL (Nasion-Sella line) = line through points N and S.
Oberoi and Vargervik [17] studied 15 individuals with VWS aged 9–10 years and 15 matched controls with non-syndromic cleft lip and/or palate. They concluded that, despite the small sample size, there was a clear tendency toward more maxillary hypoplasia in VWS, particularly in the more severe cleft types. The measurements of the sagittal jaw relationship, as represented by ANB angle and Wits appraisal, were smaller in the VWS individuals than in the matched controls and the vertical maxillary and mandibular measurements showed a trend towards steeper mandibular plane angles in the VWS group than in the controls. The differences in craniofacial morphology between our paper and previous studies may be partly related to the number and age of the patients, surgical techniques, initial extents of the clefts, and especially to the types of clefts. In this paper, all 44 children with VWS had cleft palate, all other types of clefts were excluded. The pattern of craniofacial growth varies
according to the type of the cleft. In the more extensive clefts, unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP), the maxillary growth deficiency is more severe. Semb [27] found almost no increase in the length of the maxilla in a mixed longitudinal study of 257 patients between 5–18 years of age with complete UCLP. In children with BCLP (n = 90), the maxilla was relatively prominent at 5 years, but steadily receded so that, by 7 years, the maxillary prominence value (angle SNA) was similar to that of children without clefts, and by 18 years the value was 6 less [27]. Caution is needed when comparing cephalometric studies with clefts before the eruption of permanent incisors. At age 6 years the unerupted and malpositioned permanent incisors may distort the landmark A. However, no better landmarks have been found [28]. The data of the present study were collected over a 30-year period. At that time the operations were done mostly using the palatal pushback techniques. Nowadays, the surgical methods,
4 A. Heliövaara et al.
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Table II. Cephalometric values (angles and distances) and significance in children with VWS and CP.
N-S-BA ( ) S-N-A ( ) S-N-B ( ) A-N-B ( ) S-N-POG ( ) ANS-PM (mm) N-ANS (mm) ANS-ME (mm) GN-CD (mm) ME-GO (mm) AR-GO (mm) NSL/ML ( ) S-n-a ( ) S-n-b ( ) a-n-b ( ) S-n-pog ( ) n-sn-pog ( ) PR-ls (mm) ID-li (mm) ad1-PM (mm) ad2-PM (mm) pas1-pas2 (mm) HY-HY’ (mm)
VWS (n = 44) Mean SD Mean 130.7 4.8 130.9 78.4 3.4 78.3 76 3.5 75.1 2.4 2 3.2 76.1 3.5 75 43.7 2.7 44.3 41.3 3.4 41.6 54.9 3.6 55.2 92.4 5.6 90.8 54.5 4.4 54.4 35.4 3.2 33.8 36.3 4.3 37.7 90.9 4.2 89.5 83 4.1 81.4 7.9 2.3 8.1 83.2 4.1 81.6 162.9 6.3 162 1.2 0.5 1.1 1.3 0.4 1.1 18.5 4.2 17.1 14.3 4.1 13.1 10 2.7 11.7 12.7 4.2 12.4
CP (n = 73) SD p-value 5 0.833 4 0.95 4.1 0.208 2.2 0.078 4 0.156 2.6 0.218 2.5 0.631 3.4 0.693 4.5 0.084 3.5 0.928 3.1 0.308 4.9 0.08 4 0.067 4.6 0.061 2.3 0.48 4.6 0.058 5.1 0.384 0.5 0.107 0.5 0.336 4.1 0.066 3.5 0.094 3.5 0.05* 4.5 0.706
*p
ORIGINAL ARTICLE
Craniofacial morphology in children with van der Woude syndrome and isolated cleft palate Arja Heliövaara1, Rekina Karhulahti2 & Jorma Rautio1 1
Cleft Palate and Craniofacial Center, Department of Plastic Surgery, Helsinki University Central Hospital, Helsinki, Finland and City of Vantaa Health Care, Dental Care Department, Vantaa, Finland
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2
Abstract Objective: To compare cephalometrically 6-year-old children with van der Woude syndrome and cleft palate (VWS) to children with isolated cleft palate alone (CP). Design: A retrospective case-control study. Patients and setting: Forty-four children with VWS were compared to 73 children with CP using lateral cephalograms. The mean age of the children with VWS was 6.6 years (range = 5.9–8.2) and that of the children with CP, 6.2 years (range = 5.7–6.7). Palatal closure had been done at a mean age of 1.4 years (range = 0.8–2.2), mostly with the Veau-Wardill-Killner or the Cronin pushback surgical techniques. The data was collected over a 30-year period. Main outcome measure: Linear and angular measurements were obtained from lateral cephalograms. A Student’s t-test was used in the statistical analysis. Results: The craniofacial morphology in children with VWS and CP was similar, but those with VWS had slightly smaller diameters of the lower pharyngeal airway. The maxilla and mandible were well related to each other, although a little retrusive in relation to the cranial base. The soft tissue profile reflected the skeletal relationships, no significant protrusion of the lower lip was noted. Conclusions: Six-year-old children with VWS and CP have similar craniofacial morphology. Key Words: van der Woude syndrome, cleft palate, cephalometry
Introduction Van der Woude syndrome (VWS) is a dominantly inherited syndrome characterised by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate [1]. With a prevalence of 1 in 100,000 to 1 in 40,000 stillborn or live births [2,3], VWS is one of the most common cleft syndromes. The lip pits are classically symmetrical bilateral paramedian sinuses on either side of the midline of the lower lip, but may also be asymmetrical, unilateral, or medial [4]. They are usually asymptomatic, although continuous or intermittent drainage of watery or salivary secretion can occur, and surgical treatment may be necessary. VWS is frequently associated with other anomalies such as hypodontia, syndactyly of the hands, ankyloglossia [5], and congenital heart disease [6]. Kondo et al. [7] were the first to identify the interferon regulatory factor 6 gene (IRF6) on 1q32-2 to be responsible for VWS. Later, a second VWS gene was found to be assigned to 1p34 by linkage in a large Finnish kindred [8]. Mutations in interferon regulatory factor 6 (IRF6) account for ~70% of cases of Van der Woude syndrome [9]. Mutations in two genes, IRF6 and GRHL3, can lead to nearly identical phenotypes of orofacial cleft. They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS [9]. Dental anomalies and hypodontia are common in children with clefts [10,11]. Hypodontia has been observed in 10–81% of patients with VWS [12-14]. The number of congenitally missing permanent teeth in VWS is reported to be nearly twice that in corresponding control groups [13]. The prevalence of hypodontia in children with VWS and CP was 65.4% (n = 26), and that in
children with VWS and cleft lip and palate (CLP) was 75% (n = 16). For the control groups of children with CP alone, the percentage was 33%, and with CLP alone it was 58.1% [13]. The most frequently missing teeth are the upper and lower second premolars, and upper lateral incisors [13]. In addition, taurodontism has been reported [15]. Of the 13 subjects with VWS, six had at least one tooth with taurodontism [15]. Few studies have examined craniofacial growth in VWS [16,17]. Both demonstrated deficient maxillary growth in individuals with VWS when compared with matched controls. These studies included patients of different ages and with different cleft types. The effect of isolated cleft palate on craniofacial growth is well documented. In patients with CP, the maxilla is short and retrusive in relation to the cranial base [18-23]. Also, the mandible is small and retrusive with an obtuse gonial angle and steep mandibular plane [18-21]. The relationship between the maxilla and mandible is usually satisfactory. After primary palatal repair in early childhood, a proportion of children with cleft palate need secondary operations, mainly because of hypernasal speech. Later, approximately one in eight patients with non-syndromic CP requires orthognathic surgery [24]. The patients with most extensive clefts at birth have been reported to show the most marked deviations in craniofacial morphology [21-23,25]. The skeletal craniofacial morphology is similar in both CP and submucous cleft palate (SMCP), but the soft tissue in patients with SMCP masks the slight skeletal retrusion more [26]. The purpose of this study was to evaluate the craniofacial morphology of children with VWS and cleft palate and to
Correspondence: Dr Arja Heliövaara, Senior Lecturer, Cleft Palate and Craniofacial Center, Department of Plastic Surgery, Helsinki University Central Hospital, PO Box 266, FIN-00029 HUS, Finland. Tel: +358 40 7163817. E-mail: arja.heliovaara@mbnet.fi (Received 24 August 2014; accepted 24 November 2014)
2 A. Heliövaara et al.
Journal of Plastic Surgery and Hand Surgery Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
compare it with the craniofacial morphology of children with CP alone. Both groups were of the same age, and had received the same kind of surgical treatment. We expected that the children with VWS would have more retruded maxillae. An early ability to diagnose deficient maxillary growth is important for optimal planning of type, timing, and length of orthodontic and orthognathic treatment. Materials and methods The patients comprised 44 consecutive children (17 boys) with van der Woude syndrome and cleft palate and 75 children (34 boys) with isolated cleft palate alone who had undergone treatment at the Cleft Palate and Craniofacial Centre, Department of Plastic Surgery, Helsinki University Central Hospital. The mean age of the children with VWS was 6.6 years (SD = 0.7; range = 5.9–8.2), and that of the children with ICP was 6.2 years (SD = 0.2; range = 5.7–6.7). The children with VWS were born between 1968–1999, whereas the children with CP were born between 1981–1985. For all the children, a geneticist or experienced specialists in the Cleft Palate and Craniofacial Centre verified diagnoses of VWS. Diagnosis of VWS was based on clinical findings. Altogether, 15 of the children with VWS and 25 of the children with CP had total clefts of the palate. Five children in the VWS group and five children with CP had operated submucous cleft palates. The submucous cleft palates were diagnosed either clinically or by nasopharyngoscopy. Patients with combined clefts, additional syndromes, non-caucasian ethnicity, and missing lateral radiographs were excluded (12 VWS and 14 CP). The comparability of the groups is shown in Table I. Surgical methods In the VWS group, one-stage hard- and soft-palate closure had been performed at a mean age of 1.3 years (range = 0.8–2.2) with the Veau-Wardill-Kilner or Cronin pushback techniques. These surgical methods, and the comparison of these methods, are described more in detail in another article [23]. In addition, two patients had palatal closure ad modum Bardach, and one ad modum Mendoza. Secondary operations between the ages of 3.4–5.6 years included pharyngeal flaps in six patients, and fistula closure in one. In the children with CP, palatal closure had been carried out at a mean age of 1.5 years (range = 1.0–2.1) using the Veau-Wardill-Kilner or Cronin pushback techniques. Secondary operations between the ages of 3.5–5 years included pharyngeal flaps in eight patients and closure of fistula in one. All submucous cleft palates had been operated on. The techniques for surgical treatment between the ages of 1–4.4 years consisted of palatal closure ad modum Veau-Wardill-Kilner, Cronin or Bardach, and superiorly based pharyngeal flaps ad modum Sanvenero-Rosselli, modified Honig or Hogan. Neither the patients with VWS nor those with CP had received orthodontic treatment. The VWS data were collected over a 30-year period. All of the children were born before year 2000. Since then, the method and timing of the operations have changed. Cephalometric measurements Standardised lateral cephalometric radiographs, taken with the head positioned according to the Frankfort horizontal plane with the molar teeth occluded and the lips in repose, were used. The
Table I. Comparability of the groups of children with van der Woude syndrome and isolated cleft palate (VWS) and with isolated cleft palate alone (CP).
Boys Girls Mean age and range (years)
VWS (n = 44) 17 27 6.6 (5.9–8.2)
CP (n = 73) 34 39 6.2 (5.7–6.7)
Total (n = 117) 51 66 6.4 (5.7–8.2)
same orthodontist traced the cephalograms twice during 1 week with a computer-connected digitiser. The computer was programed to calculate the mean of the two digitalisations, which were to be at an accuracy of 1 mm. If the measurement error for any digitised landmark was larger than 1 mm, the x-ray had to be re-digitised. The reference points and landmarks are shown in Figure 1. Student’s t-test was used in the statistical analysis. Test statistics with p-values equal to or less than 0.05 were considered statistically significant. The research protocol was approved by the Helsinki University Central Hospital. Principles outlined in the Declaration of Helsinki were followed. Results The craniofacial morphology in children with VWS and CP was similar, but those with VWS had slightly smaller diameters of lower pharyngeal airway (posterior airway space, pas1–pas2). The maxilla and mandible were well related to each other, although a little retrusive in relation to the cranial base. The soft tissue profile reflected the skeletal relationships, no significant protrusion of the lower lip was noted. The results are shown in Table II. Discussion Interestingly, no differences in craniofacial morphology between the children with VWS and those with CP were found. It was expected that the children with VWS would have more retruded maxillae, as previous studies [16,17] have demonstrated a few significant differences in maxillary growth between individuals with VWS and matched controls. On the other hand, both of these studies included a relatively small number of patients with VWS combined with different types of clefts. The only significant finding between the VWS and CP children in our study was the slightly smaller posterior airway space in children with VWS. This may be related to the syndrome, surgical factors or a mere coincidence. Kane et al. [16] compared cephalometrically 17 individuals with VWS and matched controls in a cross-sectional and longitudinal study with age groups of 5-, 7-, 9-, 11- and 13-year-olds and older. They found the anteroposterior maxillary length (described by the anterior nasal spine posterior maxillary point distance) to be shorter in the oldest age group with VWS. In addition, the longitudinal growth analysis showed a more inferior vertical position of the B point (the deepest point on the anterior contour of the mandibular alveolar arch) in the controls. The soft tissue measurements of the individuals with VWS showed significantly greater protrusion of the lower lip over several age ranges.
Craniofacial morphology in VWS and CP
3
n
N S
CD
Journal of Plastic Surgery and Hand Surgery Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
BA
S0
ad2 ad1
AR
prn PM
ANS sn
A
a PR
Is Ii
ID pas
B
GO
b
HY′ POG ME
GN
pog
HY
Figure 1. Cephalometric landmarks. Abbreviations, full names and definitions. Skeletal landmarks: A (Point A) = deepest point on the anterior contour of the maxillary alveolar arch; ANS (Anterior nasal spine) = tip of anterior nasal spine; AR (articulare) = intersection between the external contour of the cranial base and the dorsal contour of the mandilble; B (Point B) = deepest point on the anterior contour of the mandibular alveolar arch; BA (Basion) = most inferior point of the clivus of the occipital bone; CD (Condylion) = most posterior and superior point on the condylar head; GN (Gnathion) = most anterior and inferior point of bony chin; GO (Gonion) = intersection between the external contour of the mandible and the bisector of the angle between the ramus line and mandibular line; HY (Hyoid) = most anterior and superior point of hyoid bone; HY’ (projection point of HY) = perpendicular distance of point HY on the mandibular line; ID (infradentale) = the highest anterior point on the gingiva between the mandibular central incisors; ME (Menton) = most inferior point on mandibular symphysis; N (Nasion) = most anterior point on the nasofrontal suture; PM (Pterygomaxillare) = intersection between nasal floor and the posterior contour of maxilla; POG (Pogonion) = most prominent point of the bony chin; PR (Prosthion) = the most anterior point on the maxillary alveolar process, between maxillary central incisors; S (Sella) = centre of sella turcica. Soft tissue landmarks: a (soft tissue point a), deepest point on the soft tissue contour of the upper jaw; ad1 = intersection of the line PM-BA and the posterior nasopharyngeal wall; ad2 = intersection of the line PM-so and the posterior nasopharyngeal wall; b (soft tissue point b) = deepest point of the soft tissue contour of the lower jaw; li (labrale inferior) = most anterior point of the lower lip; ls (labrale superior) = most anterior point of the upper lip; n (soft tissue nasion) = most concave point in the tissue overlying the area of the frontonasal suture; pas (posterior airway space at gonion level) = sagittal depth of pharynx on the line through points B and Go; pog (soft tissue pogonion) = most anterior point of soft tissue chin; sn (subnasale) = point at which columnella merges with upper lip; so = midpoint of the distance from points S to BA. Lines: ML (mandibular line) = tangent to the lower border of mandible through ME; NSL (Nasion-Sella line) = line through points N and S.
Oberoi and Vargervik [17] studied 15 individuals with VWS aged 9–10 years and 15 matched controls with non-syndromic cleft lip and/or palate. They concluded that, despite the small sample size, there was a clear tendency toward more maxillary hypoplasia in VWS, particularly in the more severe cleft types. The measurements of the sagittal jaw relationship, as represented by ANB angle and Wits appraisal, were smaller in the VWS individuals than in the matched controls and the vertical maxillary and mandibular measurements showed a trend towards steeper mandibular plane angles in the VWS group than in the controls. The differences in craniofacial morphology between our paper and previous studies may be partly related to the number and age of the patients, surgical techniques, initial extents of the clefts, and especially to the types of clefts. In this paper, all 44 children with VWS had cleft palate, all other types of clefts were excluded. The pattern of craniofacial growth varies
according to the type of the cleft. In the more extensive clefts, unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP), the maxillary growth deficiency is more severe. Semb [27] found almost no increase in the length of the maxilla in a mixed longitudinal study of 257 patients between 5–18 years of age with complete UCLP. In children with BCLP (n = 90), the maxilla was relatively prominent at 5 years, but steadily receded so that, by 7 years, the maxillary prominence value (angle SNA) was similar to that of children without clefts, and by 18 years the value was 6 less [27]. Caution is needed when comparing cephalometric studies with clefts before the eruption of permanent incisors. At age 6 years the unerupted and malpositioned permanent incisors may distort the landmark A. However, no better landmarks have been found [28]. The data of the present study were collected over a 30-year period. At that time the operations were done mostly using the palatal pushback techniques. Nowadays, the surgical methods,
4 A. Heliövaara et al.
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Table II. Cephalometric values (angles and distances) and significance in children with VWS and CP.
N-S-BA ( ) S-N-A ( ) S-N-B ( ) A-N-B ( ) S-N-POG ( ) ANS-PM (mm) N-ANS (mm) ANS-ME (mm) GN-CD (mm) ME-GO (mm) AR-GO (mm) NSL/ML ( ) S-n-a ( ) S-n-b ( ) a-n-b ( ) S-n-pog ( ) n-sn-pog ( ) PR-ls (mm) ID-li (mm) ad1-PM (mm) ad2-PM (mm) pas1-pas2 (mm) HY-HY’ (mm)
VWS (n = 44) Mean SD Mean 130.7 4.8 130.9 78.4 3.4 78.3 76 3.5 75.1 2.4 2 3.2 76.1 3.5 75 43.7 2.7 44.3 41.3 3.4 41.6 54.9 3.6 55.2 92.4 5.6 90.8 54.5 4.4 54.4 35.4 3.2 33.8 36.3 4.3 37.7 90.9 4.2 89.5 83 4.1 81.4 7.9 2.3 8.1 83.2 4.1 81.6 162.9 6.3 162 1.2 0.5 1.1 1.3 0.4 1.1 18.5 4.2 17.1 14.3 4.1 13.1 10 2.7 11.7 12.7 4.2 12.4
CP (n = 73) SD p-value 5 0.833 4 0.95 4.1 0.208 2.2 0.078 4 0.156 2.6 0.218 2.5 0.631 3.4 0.693 4.5 0.084 3.5 0.928 3.1 0.308 4.9 0.08 4 0.067 4.6 0.061 2.3 0.48 4.6 0.058 5.1 0.384 0.5 0.107 0.5 0.336 4.1 0.066 3.5 0.094 3.5 0.05* 4.5 0.706
*p
