New method for quantification of the relative severity and (a)symmetry of isolated metopic synostosis.

Trigonocephaly is the result of premature fusion of the metopic suture and its severity can vary widely. However, there is no gold standard for quantification of the severity. This study was performed to quantify severity using the Utrecht Cranial Shape Quantifier (UCSQ) and to assess forehead symmetry. Nineteen preoperative non-syndromic trigonocephaly patients (age ≤1 year) were included for the analysis of severity and symmetry. Severity according to the UCSQ was based on the following combined variables: forehead width and relative skull elongation. The UCSQ was compared to the most established quantification methods. A high correlation was found between the UCSQ and visual score (r=0.71). Moderate to negligible correlation was found between the UCSQ and frontal angle, binocular distance, inter-ocular distance, and frontal stenosis. Additionally, correlation between the visual score and these established quantification methods was negligible. Assessment of the frontal peak (a)symmetry (ratio of right to left triangle area in the curve) showed a mean right versus left triangle area ratio of 1.4 (range 0.9-2.4). The results suggest that the UCSQ is appropriate for the quantification of severity based on the high correlation with clinical judgement. Furthermore, a larger triangle area right than left was unexpectedly found, indicating forehead asymmetry.

Influence of pharyngeal flap surgery on maxillary outgrowth in cleft patients.

The aim of this study was to investigate the influence of the pharyngeal flap procedure on the frequency of Le Fort I osteotomies in full-grown nonsyndromic cleft patients. A retrospective review of 508 full-grown cleft patients born between 1 January 1983 and 31 December 1992 was performed. Following data analysis, 140 males older than 18 years and 111 females over the age of 16 years were included. 69 of the 251 included cleft patients required pharyngeal flap surgery (27.5%). Revision flap surgery was performed in 17.4% of the cases. A significantly lower age at time of the initial pharyngeal flap procedure was found in patients requiring revision surgery (5.6 years versus 6.8 years). The frequency of Le Fort I osteotomies was significantly higher in the patients with a pharyngeal flap (19%) compared to those without (8%) (p<0.05). The results of this study point towards the pharyngeal flap procedure being one of the possible limiting factors for maxillary antero-posterior growth in cleft patients.

The frequency of Le Fort I osteotomy in cleft patients.

OBJECTIVE: The aim of this research was to study the frequency of Le Fort I osteotomy (LFI) in cleft patients treated according to the protocol of the Erasmus University Medical Center, Rotterdam. DESIGN: Retrospective cohort study. Patients : 508 cleft patients born between January 1, 1983, and December 31, 1992, were evaluated. MAIN OUTCOME MEASURES: Frequency of LFI and correlations with type and extent of cleft, gender, number of previous surgical procedures, age during alveolar augmentation, and missing teeth, respectively. RESULTS: 251 patients met the inclusion criteria. Overall, 28 of the 251 patients (11.2%) required LFI: none for cleft lip (0.0%); 2 of 43 (4.7%) for cleft lip and alveolus; 24 of 100 (24.0%) for cleft lip, alveolus, and palate; 2 of 50 (4.0%) for cleft palate; and none for submucous clefts or the miscellaneous group (0.0%). The frequency of LFI increased with the severity of the cleft type. The number of previous surgical interventions is significantly higher in cases with an indication for LFI (p < .001). The frequency of LFI is significantly higher in male cleft patients (p < .05). CONCLUSIONS: The overall frequency of LFI in the study group was 11.2%; this increased with the severity of the cleft type. A significant difference was noted in the number of previous surgical interventions between patients with and without an indication for an LFI. Delayed closure of the hard palate in the protocol might have influenced the low frequency of LFI.

Assessment of volumetric changes with a best-fit method in three-dimensional stereophotograms.

OBJECTIVE: Different three-dimensional stereophotogrammetry systems and analyzing methods exist that often use landmarks for comparison. Measurement errors in landmark or surface comparison are mostly within 1 mm, which seems clinically acceptable. The aim of this study was to validate a three-dimensional stereophotogrammetric best-fit method of assessing volumetric changes and to compare three devices. METHODS: The validation of the best-fit method was at first done on a life-size dummy head. Scans were made in the ideal position, as well as in four additional positions, and a scan was made in which a soft putty specimen was added to the dummy head. The comparison was executed with a best-fit method using triangulation. Student's t tests were used to detect statistically significant differences. Second, comparisons were made among scans of a white man in the ideal position and with volume changes added. RESULTS: The different positions tested for the dummy head showed no significant volume differences within each system or among systems. The differences found when adding a soft putty specimen fell into the same range as the differences between various positions. The differences within a live situation were 10 times greater compared with the dummy-head situation. CONCLUSIONS: In a dummy-head situation, the different systems gave similar results when tested with a best-fit method. However, in live situations the differences may become 10 times greater, possibly due to different facial expressions. These differences may become clinically relevant and, therefore, further research in volumetric changes is needed.

Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile.

OBJECTIVE: Little is known about the long-term prevalence of elevated intracranial pressure (ICP), obstructive sleep apnoea (OSA), level of education, language and motor skills, impaired sight and hearing in craniosynostosis syndromes. The objective of this study was to define the prevalence per syndrome of elevated ICP, OSA, impaired sight and impaired hearing. METHODS: A retrospective study was undertaken on 167 consecutive patients diagnosed with Apert, Crouzon, Pfeiffer, Muenke or Saethre-Chotzen syndrome, aged 1-25 years and treated between 1983 and 2008. The mean age at time of referral and review was 1 years and 2 months and 10 years and 3 months, respectively. RESULTS: Patients with Apert and Crouzon/Pfeiffer syndromes had the highest prevalence of elevated ICP (33% and 53%, respectively) and OSA (31% and 27%, respectively), while Saethre-Chotzen syndrome was also associated with a fair risk for elevated ICP (21%). The prevalence of impaired sight (61%) and hearing (56%) was high in all syndromes. CONCLUSION: Based on these data, a syndrome-specific risk profile with suggestions for screening and treatment is presented.

Distraction assisted treatment of a unilateral complex facial cleft.

Unilateral maxillary hypoplasia is a characteristic feature of an oblique facial cleft. This three-dimensional shortage of osseous structures and soft tissue becomes more prominent over the years and is difficult to correct. The authors describe a 17-year-old boy born with a unilateral nasomaxillary dysplasia and nasal dysplasia (Tessier type 1, 2, 3) who underwent a hemi-Le Fort III distraction with a rigid external distraction (RED) system. This distraction, in combination with initial peroperative advancement and retained with elastic traction with a facial mask, achieved a substantial horizontal improvement of the hemi-midface; this resulted in a better projection of the left cheek, infra-orbital rim, nasal ala, and improved occlusion. Owing to the underdevelopment of the maxilla and zygoma in all three dimensions, contour deformities remain. Creating several bone segments for multidirectional distraction would jeopardize vascularization of the bone. Good long-term planning is essential in these complicated cases, and more long-term results need to be assessed. The major reconstructive challenge for this complex pathology continues.

[Distraction osteogenesis in patients with craniofacial anomalies]. / Distractieosteogenese bij patiënten met craniofaciale anomalieën.

A cleft lip and palate is the most common congenital anomaly in the craniofacial region. There are many other congenital craniofacial anomalies. These anomalies may be part of a syndrome with a wide variety of expression. Some of these syndromes are characterized by hypoplasia of the mandible or by hypoplasia of the maxilla and the orbits, often in combination with premature closure of the skull sutures. In addition, posttraumatic and tumour resection defects are also classified as craniofacial anomalies. The care for patients with craniofacial anomalies is highly complex and, therefore, organised in multidisciplinary craniofacial teams. Some craniofacial anomalies treated by distraction osteogenesis are mandibular hypoplasia due to hemifacial microsomia or temporomandibular joint ankylosis, and mid facial hypoplasia due to craniosynostosis.

Advancement of the midface, from conventional Le Fort III osteotomy to Le Fort III distraction: review of the literature.

Since its introduction in about 1950, the Le Fort III (LF III) procedure has become a widely accepted treatment for correction of midface hypoplasia and related functional and esthetic problems. As long-term surgical experience grows and improvements are made in technique, equipment and peri-operative care, the number of LF III procedures performed worldwide is increasing. A number of fundamental questions concerning the technique remain unclear, and large, conclusive studies are lacking owing to the relative rarity of severe midface hypoplasia. This literature review aims to address problems, such as the indication field, timing of surgery, rate of relapse and the use of distraction osteogenesis. An overview of the history and technique of LF III osteotomy and distraction is provided, together with a comprehensive review of the available clinical data.

[Genetics of craniofacial development]. / Genetica van de ontwikkeling van schedel en aangezicht.

Congenital craniofacial malformations vary widely in both expression and gravity. To understand congenital craniofacial malformations, knowledge of embryonic development is of essential importance. Craniosynostosis has its origin in the failure of suture development between 2 bone centres or in early closure of the suture by bone centre tissue fusion. Hereditary craniosynostosis phenotypes predominantly arise by autosomal dominant inheritance. So far, the majority of mutations have been found in fibroblast growth-factor receptor genes (FGFR-genes). Different phenotypes are not primarily created by disparities of the receptors, but particularly by tissue-specific expressions.

Craniofacial variability index in utero: a three-dimensional ultrasound study.

OBJECTIVE: This study was undertaken to develop a craniofacial pattern profile analysis by three-dimensional (3D) ultrasound and to introduce a craniofacial variability index (CVI) which can assist in the evaluation of fetal facial anatomy. METHODS: Serial 3D sonographic measurements of 16 different fetal craniofacial parameters were performed at 18-34 weeks of gestation in 126 normal singleton pregnancies. In another six pregnancies complicated by fetal abnormality, a single 3D recording was obtained. The 16 measurements cover various aspects of the facial anatomy, such as width, depth and height. For each parameter, regression analysis was performed to calculate gestational age-specific Z-scores and normal limits for the CVI (the latter quantifies the variability between the 16 Z-scores). RESULTS: The 95th percentile of normal CVI data increased from 1.08 at 18 weeks to 1.27 at 34 weeks of gestation. The CVI was situated above the 95th percentile in three out of six fetuses with abnormalities. In abnormal subjects, 2-8 of 16 parameters showed abnormal values. CONCLUSIONS: Craniofacial pattern profile analysis and the CVI may aid in the evaluation of fetal facial anatomy. They could be a valuable tool in syndrome delineation and for distinguishing between normal and abnormal craniofacial development.

Craniofacial variability index determined by three-dimensional ultrasound in isolated vs. syndromal fetal cleft lip/palate.

OBJECTIVE: This study was undertaken to employ craniofacial pattern profile analysis in fetal facial clefts and to evaluate the craniofacial variability index (CVI) in distinguishing between isolated and syndromal clefts. METHODS: Three-dimensional (3D) sonographic assessment of 16 different fetal craniofacial measurements was performed in each of eight pregnancies complicated by an isolated facial cleft and seven pregnancies with a syndromal cleft. The measurements covered various aspects of facial width, depth and height. Measured values were compared to gestational age-specific normal values for calculation of Z-scores and the CVI. The number of abnormal Z-scores, i.e. < - 2 or > + 2, found among the measured values and the CVI in the group of isolated facial clefts were compared to those in the group with syndromal clefts. RESULTS: The CVI could be calculated in 14 of 15 fetuses (93%). More abnormal Z-scores and a higher mean CVI were found in the group with more severe (bilateral) facial clefts. Most abnormal values were found in the facial width measurements. Syndromal cleft lip/palate was associated with significantly more abnormal Z-scores and a higher mean CVI than isolated cleft lip/palate (P < 0.05). CONCLUSION: Craniofacial variability index may be a valuable tool for distinguishing between isolated and syndromal fetal cleft lip/palate.

Complications in maxillary distraction using the RED II device: a retrospective analysis of 21 patients.

Rigid external distraction osteogenesis (DO) in the treatment of midface hypoplasia has been shown to be effective and safe, but there have been several case reports on complications. Here is presented an overview of the complications in a series of 21 patients with various craniofacial anomalies. All patients were treated using the rigid external distraction II (RED II) device after Le Fort I or III osteotomy. Distraction started 1 week postoperatively and continued until Class I occlusion was achieved; it was then continued to include a 15% overcorrection. All data were collected and categorized retrospectively from the patients' files. After a mean period of distraction of 34 days, 42 complications were reported in six different categories. Pin loosening (42.9%) and frame migrations (28.6%) were the most common complications. Of the frame migrations 25% were traumatic. Intracranial penetration of one fixation pin occurred during removal of the RED II device in one patient. From these results it can be deduced that application of the RED II device is associated with a substantial number of specific complications that mainly concern the pins of the halo-frame. The stability of the device is discussed as the distraction distance achieved was less than expected.

[A girl with congenital hemifacial hypertrophy]. / Een meisje met congenitale hemifaciale hypertrofie.

A girl with congenital hemifacial hypertrophy had been observed and treated by a multidisciplinary team for craniofacial disorders in an academic medical centre since birth. At the age of 8 she was treated on account of considerable facial asymmetry and multiple intraoral problems. The two-step surgery involved reduction of the maxilla and the zygoma, reduction of soft tissues, removal of the teeth on the affected side, correction of the alveolar ridges of the maxilla and the mandible and placement of oral implants. After a healing period of 4 months fixed partial dentures were constructed on the implants.

Torticollis and plagiocephaly in infancy: therapeutic strategies.

BACKGROUND: Asymmetry in infancy is a diagnosis with a large spectrum of features, expressing an abnormal shape of parts of the body or unequal postures and movements, which might be structural and/or functional, with localized or generalized expression. PURPOSE: The purpose of the present study is to highlight different therapeutic aspects of the most occurring asymmetries in infancy: congenital muscular torticollis, positional torticollis and plagiocephaly, based on best evidence in current literature. RESULTS: A flow chart is presented showing different pathways in therapeutic strategies, such as physical therapy, orthotic devices (helmet treatment and Dynamic Orthotic Cranioplasty) and surgery. CONCLUSION: It is concluded that there are different views towards management on torticollis and plagiocephaly. A systematic therapeutic management to evaluate these asymmetries is indicated. The presented therapeutic flow chart might serve as a basis in order to achieve uniformity in therapeutic thinking and performance.

Serial noninvasive photoacoustic imaging of neovascularization in tumor angiogenesis.

We present photoacoustic images of tumor neovascularization obtained over a 10-day period after subcutaneous inoculation of pancreatic tumor cells in a rat. The images were obtained from ultrasound generated by absorption in hemoglobin of short laser pulses at a wavelength of 1064 nm. The ultrasound signals were measured in reflection mode using a single scanning piezodetector, and images were reconstructed with a weighted delay-and-sum algorithm. Three-dimensional data visualize the development and quantify the extent of individual blood vessels around the growing tumor, blood concentration changes inside the tumor and growth in depth of the neovascularized region.

The role of three-dimensional ultrasound in visualizing the fetal cranial sutures and fontanels during the second half of pregnancy.

OBJECTIVES: The aim of this study was to evaluate the significance of three-dimensional (3D) ultrasound in visualizing fetal cranial sutures and fontanels and to determine factors that could influence visualization and image quality. METHODS: Serial 3D ultrasound examinations were evaluated for visibility of fetal cranial sutures and fontanels, image quality and possible influencing parameters in the second half of pregnancy. Thirty fetuses were scanned at four different gestational ages providing a data set of 120 cases. RESULTS: Most (82-100%) cranial sutures and fontanels could be visualized with 3D ultrasound. However, the sagittal suture and posterior fontanel were visualized in only 47% and 42%, respectively. Gestational age significantly influenced the visibility of the sutures and fontanels, image quality decreasing with advancing gestational age. CONCLUSIONS: 3D ultrasound can be a reliable technique for visualizing most fetal cranial sutures and fontanels. By performing a sagittal and a transverse scan, most of the sutures and fontanels can be made visible during the second half of pregnancy. Visualization depends on gestational age.