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BACKGROUND: Deformational plagiocephaly is usually managed conservatively, as it tends to improve over time and with the use of conservative measures. However, before the year 2017 we operated on patients with severe plagiocephaly and neurological symptoms at the Helsinki Cleft Palate and Craniofacial Center. METHODS: Of the 20 infants with severe deformational plagiocephaly and neurological symptoms referred to us between 2014 and 2016, 10 underwent cranioplasty open reshaping of the posterior cranial vault. The parents of the last 10 patients were given information on the natural history of the condition and the patients were followed up with an outpatient protocol. The aim of this study was to gain information on the brain electrophysiology and recovery of patients after total cranial vault reconstruction by measuring the electroencephalogram (EEG) somatosensory evoked potentials (SEP; median nerve). RESULTS: Of the 10 participants in the operation arm, six had abnormal SEP at least on the affected cerebral hemisphere and all SEPs were recorded as normal when controlled postoperatively. In the follow-up arm, eight out of 10 participants had abnormal SEP at the age of approximately 24 months, and all had normalized SEPs at control visits. CONCLUSION: Our data suggest that cranioplasty open reshaping of the posterior cranial vault did not affect abnormal SEP-EEG recordings. We have abandoned the operations in deformational plagiocephaly patients due to findings suggesting that expanding cranioplasty is not beneficial for brain function in this patient group.
ABSTRACT
BACKGROUND AND AIMS: Between 1997 and 2014, 3 protocols have been used in out cleft unit for primary repair of unilateral cleft lip and palate. During the Scandcleft randomized controlled trial closing the soft palate and lip at 4 months and the hard palate at 12 months (Protocol 1) was compared with closing the entire palate at 12 months (Protocol 2). Protocol 3 comprises closure of the lip and hard palate with a vomer flap at 4 months and the soft palate at 10 months. The purpose of this study was to compare subsequent velopharyngeal competence at age of 3 and 5 years. PATIENTS AND METHODS: The study consisted of 160 non-syndromatic patients with a unilateral cleft lip and palate. Protocol 3 was retrospectively compared with Protocols 1 and 2 within the previously published Scandcleft study. RESULTS: At 3 years of age, normal or borderline competent velopharyngeal function was found in 68% of patients in Protocol 1, 74% of patients in Protocol 2, and 72% of patients in Protocol 3. At 5 years of age, the corresponding figures were 84%, 82%, and 92%. 21% of patients in Protocol 1, 4% in Protocol 2, and 23% in Protocol 3 had palatal reoperations before the age of 5 years. CONCLUSION: No significant differences emerged in velopharyngeal competence at age 3 years between the 3 protocols. Palatal reoperations were performed earlier in patient groups 1 and 3, explaining the difference in the velopharyngeal competence rate at the 5-year time-point.
Subject(s)
Cleft Lip/physiopathology , Cleft Palate/physiopathology , Child, Preschool , Cleft Lip/surgery , Cleft Palate/surgery , Follow-Up Studies , Humans , Male , Palate, Hard/surgery , Palate, Soft/surgery , Plastic Surgery Procedures , Retrospective Studies , Speech , Surgical Flaps/surgery , Vomer/surgeryABSTRACT
BACKGROUND: Longstanding uncertainty surrounds the selection of surgical protocols for unilateral cleft lip and palate, and randomised trials have only rarely been performed. The Scandcleft Project consists of three trials commenced in 1997 involving ten centres in Denmark, Finland, Norway, Sweden, and the UK. Three groups of centres tested a newly-defined common technique for palatal repair (Arm A) against their local protocols (Arms B, C, D). Arm A was familiar to most of the surgeons in Trial 1, but not to the surgeons in the other Trials. AIM: To evaluate surgical events and complications of the 448 (293 boys, 155 girls) patients with complete unilateral cleft lip and palate (UCLP) enrolled in the three trials. METHOD: The three trials were carried out in parallel in adherence with a fully developed, ethically approved protocol. Operative time, bleeding, complications, and major dehiscence during and after both primary surgeries were recorded by the surgeon. Rates of fistula and surgery for velopharyngeal incompetence (VPI) were assessed until the youngest patient of the study had reached the age of 9 years. Pearson Chi-square statistical analysis was used to compare the outcomes. RESULTS: No significant differences in bleeding, infection, anaesthetic complications or length of hospital stay between the different arms were found for Trial 1. However, in Trials 2 and 3 there were more airway problems in Arm A than with the traditional local protocols (Arms C or D). In Trial 3 fistula and VPI surgery rates were also higher in Arm A. CONCLUSIONS: The results do not provide statistical evidence that any technique is better than others, but indicate that surgery was more problematic for surgeons who were still gaining experience with an unfamiliar surgical protocol. TRIAL REGISTRATION: ISRCTN29932826.
Subject(s)
Cleft Lip/surgery , Cleft Palate/surgery , Plastic Surgery Procedures/methods , Velopharyngeal Insufficiency/etiology , Child, Preschool , Cleft Lip/diagnosis , Cleft Palate/diagnosis , Denmark , Female , Finland , Follow-Up Studies , Humans , Infant , Male , Postoperative Complications/epidemiology , Postoperative Complications/physiopathology , Randomized Controlled Trials as Topic , Plastic Surgery Procedures/adverse effects , Risk Assessment , Sweden , Time Factors , Treatment Outcome , Velopharyngeal Insufficiency/physiopathology , Velopharyngeal Insufficiency/therapyABSTRACT
BACKGROUND AND AIMS: Longstanding uncertainty surrounds the selection of surgical protocols for the closure of unilateral cleft lip and palate, and randomised trials have only rarely been performed. This paper is an introduction to three randomised trials of primary surgery for children born with complete unilateral cleft lip and palate (UCLP). It presents the protocol developed for the trials in CONSORT format, and describes the management structure that was developed to achieve the long-term engagement and commitment required to complete the project. METHOD: Ten established national or regional cleft centres participated. Lip and soft palate closure at 3-4 months, and hard palate closure at 12 months served as a common method in each trial. Trial 1 compared this with hard palate closure at 36 months. Trial 2 compared it with lip closure at 3-4 months and hard and soft palate closure at 12 months. Trial 3 compared it with lip and hard palate closure at 3-4 months and soft palate closure at 12 months. The primary outcomes were speech and dentofacial development, with a series of perioperative and longer-term secondary outcomes. RESULTS: Recruitment of 448 infants took place over a 9-year period, with 99.8% subsequent retention at 5 years. CONCLUSION: The series of reports that follow this introductory paper include comparisons at age 5 of surgical outcomes, speech outcomes, measures of dentofacial development and appearance, and parental satisfaction. The outcomes recorded and the numbers analysed for each outcome and time point are described in the series. TRIAL REGISTRATION: ISRCTN29932826.
Subject(s)
Cleft Lip/surgery , Cleft Palate/surgery , Plastic Surgery Procedures/methods , Quality of Life , Chi-Square Distribution , Child, Preschool , Cleft Lip/diagnosis , Cleft Lip/psychology , Cleft Palate/diagnosis , Cleft Palate/psychology , Disease Management , Esthetics , Female , Follow-Up Studies , Health Planning , Humans , Infant , Male , Observer Variation , Postoperative Complications/epidemiology , Postoperative Complications/physiopathology , Randomized Controlled Trials as Topic , Risk Assessment , Treatment OutcomeABSTRACT
The differential diagnostics between the common positional posterior plagiocephaly and relatively rare lambdoid synostosis is important due to the differences in their treatment plan and clinical management. However, the clinical criteria for the diagnosis of lambdoid synostosis are not clear since there is a considerable overlap in the features of positional posterior plagiocephaly and unilateral lambdoid synostosis. To systematically evaluate the clinical findings in these 2 patient groups, we quantitatively compared the characteristics of endocranial skull base and ectocranial calvarium in 3D computed tomography, in 9 children (mean age 2.9 years) with unilateral lambdoid synostosis and 9 children with positional posterior plagiocephaly. The groups were sex and age matched. Our results show that the skull bases in the lambdoid synostosis are posteriorly shorter and more twisted than in positional posterior plagiocephaly. Anterior twisting was mild in both skull types. Our study confirmed earlier suggested diagnostic feature: prominent ipsilateral mastoidal bossing downward and laterally in all lambdoid skulls. In positional posterior plagiocephaly the bossing was typically not detected. Interestingly, there was a great variation in the position of the ipsilateral ear and external auditory meatus in both patient groups. Thus, neither antero-posterior nor vertical position of ear is a reliable differential diagnostic feature between lambdoid synostosis or positional posterior plagiocephaly.
Subject(s)
Craniosynostoses/diagnostic imaging , Imaging, Three-Dimensional/methods , Plagiocephaly, Nonsynostotic/diagnostic imaging , Skull Base/diagnostic imaging , Skull/diagnostic imaging , Tomography, X-Ray Computed/methods , Case-Control Studies , Cephalometry/methods , Child , Child, Preschool , Diagnosis, Differential , Ear Canal/abnormalities , Ear Canal/diagnostic imaging , Ear, External/diagnostic imaging , Female , Humans , Infant , Male , Mastoid/abnormalities , Mastoid/diagnostic imaging , Parietal Bone/diagnostic imaging , Patient Care Planning , Petrous Bone/diagnostic imaging , Sella Turcica/diagnostic imagingABSTRACT
OBJECTIVES: This study aims to compare pre- and postoperative cephalic indexes (CI) with corresponding segmented intracranial volumes (SIV) obtained from volumetric CT in scaphocephalic patients. METHODS: Twenty-four patients (17 boys) who had undergone cranial vault remodeling due to scaphocephaly were compared from 3D-CT imaging datasets. The mean age of the patients at preoperative CT imaging was 5.5 months, and that at 1-year postoperative imaging, 21.5 months. The mean interval between preoperative CT imaging and surgery was 3.3 months. Pearson's correlation was used to test the correlation of both pre- and postoperative CI with SIV. A paired t test was used to compare differences in the pre- and postoperative mean values of CI and SIV. RESULTS AND DISCUSSION: CI correlated poorly with intracranial volume both preoperatively (r = 0.274) and postoperatively (r = 0.128). The mean preoperative CI was 65.92 (range 57.99-73.97), and the mean postoperative, CI 70.24 (range 60.23-75.57). The mean preoperative intracranial volume was 877.79 cm(3) (range 638-1,256), and the 1-year postoperative volume, 1,249.04 cm(3) (range 1,039-1,529). The mean values of both CI and SIV increased significantly after surgery. In one patient, the CI in postoperative measurements was smaller, whereas in all patients, the postoperative SIV was larger than the preoperative intracranial volume. The mean percentage increase in CI was 6.6 %, whereas the mean increase in SIV was 43.1 %. CONCLUSION: Cephalic index correlates poorly with intracranial volume in non-syndromic scaphocephalic patients. For some patients, surgery and growth resulted in only subtle or no change in CI despite a notable increase in intracranial volume.
Subject(s)
Cephalometry , Cone-Beam Computed Tomography , Craniosynostoses/diagnosis , Craniosynostoses/surgery , Imaging, Three-Dimensional , Female , Follow-Up Studies , Humans , Infant , Male , Postoperative Complications/diagnosis , Skull/surgery , Statistics as TopicABSTRACT
OBJECTIVE: Six-year-old children with bilateral cleft lip and palate (BCLP) were examined to evaluate the need for orthognathic surgery later in life and to cephalometrically compare the craniofacial morphology of those needing orthognathic surgery with those not needing surgery. Design Retrospective longitudinal study. Patients Thirty-eight consecutive nonsyndromic patients with BCLP (29 boys). Main Outcome Measures Children with BCLP were analyzed from lateral cephalograms taken at a mean age of 6.1 years (range 5.8 to 6.6 years). The need for orthognathic surgery in these patients was determined from hospital records at the mean age of 18.2 years (range 15.5 to 20.2 years). Student's t test and chi-square test were used in statistical analysis. Results The overall frequency of maxillary or bimaxillary osteotomy was 66% (25 of 38). The patients needing maxillary or bimaxillary osteotomies had flatter soft tissue profiles (n-sn-gn), shorter lower facial heights (ANS-ME), and smaller mean values of the ANB angle (sagittal maxillomandibular relationship) at the age of 6 years than those who did not. ANB angle was the most significant predictor for later osteotomy. Despite individual variation, all children (n = 13) whose ANB angle was less than 7°, needed later orthognathic surgery; whereas, none of those whose ANB angle was greater than 12.5° (n = 6) needed maxillary osteotomies. Conclusions Two thirds of children with BCLP needed orthognathic surgery later in life. Half of the children who needed later osteotomies could be identified at the age of 6 years by having an ANB angle less than 7°.
Subject(s)
Cleft Lip , Orthognathic Surgery , Cephalometry , Child , Cleft Lip/surgery , Cleft Palate/surgery , Humans , Longitudinal Studies , Retrospective StudiesABSTRACT
PURPOSE: Craniosynostosis may lead to reduced intracranial volume (ICV) and disturb normal brain growth and development. Thus, ICV is an important parameter with respect to the surgical outcome. Current methods for ICV determination from computed tomography (CT) images have drawbacks. The aim of this study was to investigate the performance of the novel mesh-based method (MBM) for ICV determination with craniosynostosis patients. METHODS: Twenty-two patients operated on for scaphocephaly were included in this study. ICVs from preoperative, one-week postoperative, and one-year postoperative CT images were measured with MBM. The level of agreement with the manual segmentation method (MSM) was determined for the measurements of preoperative and one-year postoperative datasets. Repeatability was determined with re-measurements of six datasets. Measurement time was recorded for MBM. RESULTS: Mean [Formula: see text] preoperative ICV values were 895.0 [Formula: see text] 153.1 [Formula: see text] and 896.4 [Formula: see text] 147.2 [Formula: see text] as measured with MBM and MSM, respectively. Corresponding one-year postoperative values were 1,238.3 [Formula: see text] 118.7 [Formula: see text] and 1,250.1 [Formula: see text] 117.5 [Formula: see text]. The MBM allowed ICV determination from one-week postoperative datasets. Measurement time with MBM was 4 CONCLUSIONS: MBM is an efficient method for determining the ICV of craniosynostosis patients, allowing the measurement of skulls with bony defects. The repeatability and short measurement time of MBM are attributable to the user interference and assessment of the measurement process.
Subject(s)
Craniosynostoses/diagnosis , Imaging, Three-Dimensional , Magnetic Resonance Imaging/methods , Multidetector Computed Tomography/methods , Skull/diagnostic imaging , Craniosynostoses/surgery , Disease Progression , Female , Follow-Up Studies , Humans , Infant , Male , Reproducibility of Results , Retrospective StudiesABSTRACT
PURPOSE: This study examined early language acquisition in children with single suture craniosynostosis (SSC) and in children with deformational posterior plagiocephaly. Our purpose was to determine whether infants with SSC have normal language acquisition at the age of 3 years, and whether infants with deformational posterior plagiocephaly demonstrate parallel development when compared with children with SSC. METHODS: The study population includes 61 infants. Twenty of them had synostosis of the sagittal suture, 12 synostosis of other suture and 29 deformational posterior plagiocephaly. Forty-nine of them were operated on a mean age of 10.6 months, and 12 were non-operated children with deformational posterior plagiocephaly. Language skills of participants were prospectively evaluated at the mean age of 3 years 4 months. RESULTS: About one half of the subjects (49%) had normal linguistic development, 30% had slight developmental problems and 21% had severe disorders in speech-language-related skills. These figures showed the prevalence of severe language disorders to be three times higher in our study population when compared with the general population. Children with sagittal synostosis managed better in all language skills compared with other types of SSC. Defective language development was found in deformational posterior plagiocephaly, both operated and non-operated. CONCLUSIONS: We found a noticeable developmental risk for specific language impairment in children with nonsyndromic SSC, and that the deviant language development is observable already in early infancy. Contrary to previous beliefs, the developmental risk for defective language development in deformational posterior plagiocephaly was found in both operated and non-operated subjects.
Subject(s)
Cranial Sutures/physiopathology , Craniosynostoses/complications , Developmental Disabilities/physiopathology , Language Disorders/etiology , Plagiocephaly, Nonsynostotic/complications , Child, Preschool , Cranial Sutures/surgery , Craniosynostoses/surgery , Female , Humans , Male , Plagiocephaly, Nonsynostotic/surgeryABSTRACT
Craniosynostosis consists of a premature fusion of the sutures in an infant skull that restricts skull and brain growth. During the last decades, there has been a rapid increase of fundamentally diverse surgical treatment methods. At present, the surgical outcome has been assessed using global variables such as cephalic index, head circumference, and intracranial volume. However, these variables have failed in describing the local deformations and morphological changes that may have a role in the neurologic disorders observed in the patients. This report describes a rigid image registration-based method to evaluate outcomes of craniosynostosis surgical treatments, local quantification of head growth, and indirect intracranial volume change measurements. The developed semiautomatic analysis method was applied to computed tomography data sets of a 5-month-old boy with sagittal craniosynostosis who underwent expansion of the posterior skull with cranioplasty. Quantification of the local changes between pre- and postoperative images was quantified by mapping the minimum distance of individual points from the preoperative to the postoperative surface meshes, and indirect intracranial volume changes were estimated. The proposed methodology can provide the surgeon a tool for the quantitative evaluation of surgical procedures and detection of abnormalities of the infant skull and its development.
Subject(s)
Algorithms , Cephalometry/methods , Craniosynostoses/surgery , Image Processing, Computer-Assisted/methods , Imaging, Three-Dimensional , Outcome Assessment, Health Care/methods , Skull/diagnostic imaging , Tomography, X-Ray Computed , Craniosynostoses/diagnostic imaging , Humans , Infant , Male , Outcome Assessment, Health Care/statistics & numerical data , Skull/growth & development , Subtraction TechniqueABSTRACT
Craniosynostosis consists of a premature fusion of the sutures in an infant skull, which restricts the skull and brain growth. During the last decades there has been a rapid increase of fundamentally diverse surgical treatment methods. At present, the surgical outcome has been assessed using global variables such as cephalic index, head circumerence and intracranial volume. However, the variables have failed in describing the local deformations and morphological changes, which are proposed to more likely induce neurological disorders.
Subject(s)
Craniosynostoses/surgery , Image Interpretation, Computer-Assisted/methods , Postoperative Care/methods , Algorithms , Craniosynostoses/diagnostic imaging , Humans , Infant , Organ Size , Skull/diagnostic imaging , Skull/pathology , Tomography, X-Ray ComputedABSTRACT
PURPOSE: To determine the long-term outcomes of maxillary distraction osteogenesis (DO) on skeletal and dental structures of growing children with cleft lip and palate. PATIENTS AND METHODS: Severe maxillary deficiencies were treated with a rigid external distractor device followed by a consolidation period. Preoperative and postoperative orthodontic treatment lasted a mean of 14 months and 16 months, respectively. The landmarks on standard lateral cephalometric x-rays were digitized and angular and linear measurements were compared by Student's t test to assess the changes before distraction, after distraction, after consolidation, at 1-year follow-up, and at 2-year follow-up. Long-term follow-up (5 years) was interpreted according to mean values because of the small sample size. RESULTS: During DO, the maxilla was horizontally advanced and moved downward as indicated by the significant changes at the SNA and ANB angles (13 degrees) and at maxillary points A, ANS, and PNS. The increase at the divergence between the maxilla and mandible (ANS-PNS/Me-Go) was found to be significant. The mandible (B, Pg, Me) also moved downward (2-4 mm) and backward (Gn) significantly because of mandibular autorotation. The overjet increased (mean increase, 13.7 mm) and the overbite decreased significantly. The advancement of the upper incisors (13.3 mm) and upper molars (12.3 mm) was slightly more than the skeletal points. In a long-term follow-up (5 years), the ANB angle and horizontal overjet continued to decrease but both values remained positive, indicating a Class I relationship. CONCLUSIONS: This cephalometric study of young adolescents with cleft lips and palates found great improvement in dentofacial structure after maxillary DO and stability in maxillary skeletal advancement. During a 5-year follow-up, the achieved dentoskeletal treatment outcome was partly diminished. The extreme need for maxillary advancement or facial correction because of psychosocial stress and providing an easier approach for finalizing osteotomy are the major 2 indications for DO treatment.
Subject(s)
Cleft Palate/surgery , Maxilla/surgery , Maxillofacial Development , Oral Surgical Procedures/methods , Osteogenesis, Distraction , Adolescent , Cephalometry , Child , Cleft Lip/surgery , Female , Follow-Up Studies , Humans , Male , Malocclusion, Angle Class III/surgery , Malocclusion, Angle Class III/therapy , Orthodontics, Corrective , Osteotomy, Le Fort , Probability , Plastic Surgery Procedures/methods , Treatment OutcomeABSTRACT
INTRODUCTION: This study was designed to determine the incidence of Chiari malformation (CM) in nonsyndromic single suture craniosynostosis (N-SSSC). MATERIALS AND METHODS: A retrospective analysis of brain magnetic resonance imaging (MRI) studies of children undergoing craniofacial surgery during 1 January, 2004-31 March, 2009 in Cleft Palate and Craniofacial Centre, Department of Plastic Surgery, Helsinki University Hospital, Helsinki, Finland, was conducted. RESULTS AND DISCUSSION: One hundred twenty-four N-SSSC patients were imaged using brain MRI. Of these 124 patients, seven patients were diagnosed with N-SSSC with an associated CM; the incidence CM in association with N-SSSC was thus 5.6%. The average age at the time of MRI was 37.7 months. All were males, except one. Only two types of synostosis were identified in this patient cohort: synostosis involving the sagittal suture in five cases and right coronal synostosis in two cases. The CM malformations were relatively large. The tonsillar herniation varied from 6 to 12 mm (median 9 mm). All these patients were asymptomatic of their CMs. None had operation designed directly to correct the CM. CONCLUSION: As a conclusion, we state that the association of CM and N-SSSC is a relatively common finding, with an incidence of 5.6% in preoperative brain MRI. The significance of finding CM in preoperative brain MRI should be assessed individually in asymptomatic patients.
Subject(s)
Arnold-Chiari Malformation/epidemiology , Craniosynostoses/epidemiology , Arnold-Chiari Malformation/pathology , Brain/pathology , Child , Child, Preschool , Cohort Studies , Craniosynostoses/pathology , Craniosynostoses/surgery , Encephalocele/epidemiology , Encephalocele/pathology , Female , Finland/epidemiology , Humans , Incidence , Infant , Magnetic Resonance Imaging , Male , Retrospective StudiesABSTRACT
Purpose. We describe a case of 3-year-old girl with rhombencephalosynapsis, a rare cerebellar anomaly. Patient. A 3-year-old girl was admitted to our hospital due to congenital torticollis and asymmetry of face, skull and trunk. Craniosynostosis was suspected due to abnormal head shape. 3D-CT revealed closure of the sagittal suture without scaphocephalic skull. Due to atypical craniosynostosis with neurological symptoms, brain-MRI was performed revealing rhombencephalosynapsis. Results. Our patient presented with atypical craniosynostosis and balance problems, not typical for scaphocephaly. Operative treatment for craniosynotosis was not carried out because the cause of the problems was the cerebellum instead of the brain. Conclusions. Therefore, we conclude that patients with atypical craniosynostosis should be examined with brain-MRI to exclude the intracranial malformations, which 3D-CT does not reveal. Without brain-MRI, decision (not) to perform surgery could have been different.
ABSTRACT
Craniosynostosis, premature suture fusion, is one of the most common craniofacial anomalies affecting approximately 1 in 2,500 live births. Craniosynostosis is most commonly an isolated (nonsyndromic) condition with the sagittal suture being the most commonly affected suture. In this review we describe the range of isolated synostoses and show how these can lead to a variety of different morphological and functional abnormalities.
Subject(s)
Craniosynostoses/diagnosis , Diagnostic Imaging , Cranial Sutures/pathology , Frontal Bone/abnormalities , Humans , Imaging, Three-Dimensional , Occipital Bone/abnormalities , Parietal Bone/abnormalities , Tomography, X-Ray ComputedABSTRACT
In this paper, the use of magnetoencephalography (MEG) in studying the basic auditory skills in infants and children is reviewed. The auditory skills are related to perceiving sound onsets and offsets of sounds, extracting rules and regularities in sound environments, perceiving differences and changes in sounds, categorizing sound elements, allocating attention towards certain sounds or sound streams, and attaching semantic information into sounds. Studying each of these auditory skills with MEG in particular stimulation paradigms is shortly reviewed, including two examples of data sets in children.
Subject(s)
Evoked Potentials, Auditory/physiology , Functional Laterality/physiology , Hearing Tests/methods , Language Development , Magnetoencephalography/methods , Child , Child, Preschool , Hearing Tests/instrumentation , Humans , Infant , Infant, Newborn , Language TestsABSTRACT
In Finland, 3 patients have been diagnosed with Nager syndrome (NS) during the last 17 years. Thus the incidence for NS in Finland is 3:1,000,000. The craniofacial structures and dental development of these patients were studied clinically and radiographically at the age of 3-4 years, and compared to age-matched controls and to the norms of the Finnish population. The striking structural finding was a severely short, retrognathic and posteriorly rotated mandible. Especially the ramus was deficient; its height was, on average, less than one-third of that of the control group. All children were tracheostomized neonatally. At the age of 3-4, the lower pharyngeal airway was still severely obstructed or completely closed. Nasopharyngeal airway was wide and the soft palate was missing in all patients. All patients had a complete deciduous dentition, but agenesis of permanent teeth (ranging from 2-10 missing teeth) was observed in each patient. Accelerated dental development was found in two subjects. Condylar ankylosis or severely limited mouth opening were observed. The present findings give new information and quantify earlier observations of craniofacial structures and dental development in NS. Analysis of facial structures suggests that if surgical intervention is needed to enable better breathing, the goal of the structural correction should be aimed at the most deficient structure, namely the ramus height. As a result of severe dentofacial deviation, a treatment process through the growth requires multidisciplinary teamwork of surgeons, pediatrists, orthodontists and prosthodontists.
Subject(s)
Cephalometry/methods , Mandibulofacial Dysostosis/diagnostic imaging , Skull/diagnostic imaging , Airway Obstruction/surgery , Child, Preschool , Female , Humans , Image Processing, Computer-Assisted , Male , Mandibulofacial Dysostosis/pathology , Radiography , Skull/pathology , Syndrome , Tooth Abnormalities/diagnostic imagingABSTRACT
The interferon regulatory factor 6 gene (IRF6) has been identified as the major Van der Woude (VWS) syndrome and popliteal pterygium (PPS) syndrome gene with mutations in the majority of the kindreds. We have studied altogether 17 kindreds from Sweden, Finland, Norway, Thailand and Singapore, and report here 10 mutations, six of them previously unseen. In two kindreds, we could document de novo mutations, both of them changing a codon for a glutamine residue to a stop. No mutation could be detected in the four VWS kindreds from Finland, suggesting a founder effect for a mutation in an atypical noncoding position. Our findings demonstrate that several distinct mutations occur in the Swedish population, and confirm the general notion of a broad spectrum of IRF6 mutations underlying the VWS/PPS phenotypes.
Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Interferon Regulatory Factors/genetics , Skin Abnormalities/genetics , DNA Mutational Analysis , Female , Genes, Dominant , Genitalia/abnormalities , Humans , Leg/abnormalities , Male , Mutation , Pedigree , Polymorphism, Genetic , SyndromeABSTRACT
Various unexpected events during mandibular distraction osteogenesis are described in 16 syndromic children with severely retrognathic or asymmetric lower jaws who were treated with unilateral or bilateral extraoral distraction. The mean total time with the distraction devices attached was 14 weeks (range 10-19). Although improvement in facial aesthetics and the desired occlusion was achieved in all but one case, there were unexpected events associated with mandibular distraction. These included pain not related to the operation, functional disturbance in movement of the jaw, dietary problems, weight loss, unfulfilled expectations of decannulation, temporary unilateral facial nerve palsy, and transient unilateral hypoaesthesia of the inferior alveolar nerve. Reoperation was required in 5 of the 16. In addition to these events, psychosocial problems within one family complicated the procedure. Patients and their families should be informed of the lesser-known aspects of distraction osteogenesis before the procedure is used.
Subject(s)
Jaw Abnormalities/surgery , Mandible/surgery , Osteogenesis, Distraction , Postoperative Complications , Adolescent , Child , Child, Preschool , Female , Humans , Male , Osteogenesis, Distraction/psychology , Treatment OutcomeABSTRACT
The purpose of this article is to report the case of a 10-year-old girl born with anophthalmia, bilateral oblique facial clefts, and missing scalp and bones over the temporal and parietal areas of the cranial vault bilaterally. Early amnion rupture seems to be the most probable cause of this rare combination of anomalies. Because no similar case has been reported in the literature so far, we describe here the clinical and psychosocial history of this unusual patient, who has been able to live the intellectually and socially normal life of a blind child in spite of the major craniofacial deformities. The already completed and possible future therapeutic strategies are discussed.