Frequency of surgical correction for maxillary hypoplasia in cleft lip and palate.

OBJECTIVE: The aim of this study was to determine the frequency of surgical correction of maxillary hypoplasia in individuals with nonsyndromic cleft lip and/or palate (CL/P) treated at the Center for Craniofacial Anomalies at University of California, San Francisco (UCSF). SUBJECTS: This is a retrospective cohort study of individuals with cleft lip and/or palate born between 1970 and 1990 who were treated at the UCSF Center for Craniofacial Anomalies. Data were gathered from the UCSF Craniofacial Anomalies Filemaker Pro database. METHODS: From the database, we collected the following information: age, gender, cleft type, date of orthognathic surgery, and type of osteotomy. The subjects were further subcategorized by cleft type and gender. RESULTS: A total of 973 individuals with a diagnosis of cleft lip and/or palate were reviewed: 325 subjects had an associated syndrome and 648 were nonsyndromic. A total of 59 of these 648 nonsyndromic cleft individuals (9.1%) required surgical intervention for correction of maxillary hypoplasia: 2/105 (1.9%) for cleft lip, 4/122 (3.3%) for cleft palate, 35/286 (12.2%) for unilateral cleft lip and palate, and 18/135 (13.3%) for bilateral cleft lip and palate. CONCLUSIONS: The frequency of surgical correction for maxillary hypoplasia in cleft individuals at UCSF Center for Craniofacial Anomalies at 9% was lower than the reported average of 25%.

Facial skeletal morphology in growing children with Pierre Robin sequence.

OBJECTIVE: The purpose was to compare the jaw size, jaw relationship, and facial proportions of children with nonsyndromic Pierre Robin sequence with children with nonsyndromic or isolated cleft palate. DESIGN: This is a retrospective cohort study comparing radiographic findings in children with Pierre Robin sequence or isolated cleft palate at two time intervals: ages 4 to 7 years (T1) and ages 10 to 13 years (T2). Linear and angular measurements were obtained using cephalograms; the cephalometric values were compared with unpaired t tests, assuming unequal variances. SETTING: The study was conducted at the Center for Craniofacial Anomalies at the University of California, San Francisco. PATIENTS: The sample included 13 children with Pierre Robin sequence and 14 children with isolated cleft palate who were followed at University of California, San Francisco, craniofacial anomalies clinic during the period from 1971 to 2007 and met the inclusion criteria. MAIN OUTCOME MEASURES: The outcome measures were mandibular length, maxillary length, and sagittal jaw relationship in Pierre Robin sequence and isolated cleft palate children at T1 and T2. RESULTS: During early childhood (T1: 4 to 7 years), mandibular length (Co-Gn) was similar in both Pierre Robin sequence and isolated cleft palate groups, as was the maxillary length (Co-A). In older children (T2: 10 to 13 years) mandibular length was significantly shorter in the Pierre Robin sequence group compared with the isolated cleft palate group (difference  =  10.9 mm, p  =  .009). Maxillary length in Pierre Robin sequence and isolated cleft palate groups was similar at T2 but significantly shorter in comparison to age-matched norms with a difference of 14.5 mm (p  =  .037) for Pierre Robin sequence and 12.4 mm (p  =  .045) for isolated cleft palate. Children with Pierre Robin sequence did not show a sagittal jaw discrepancy due to a proportionate deficiency in maxillary and mandibular length; whereas, children with isolated cleft palate showed a greater sagittal jaw discrepancy due to normal mandibular length and deficiency in maxillary length. CONCLUSION: Our study confirms the findings of some previous studies that suggest that children with nonsyndromic Pierre Robin sequence have a proportionate retrusion of the maxilla and mandible, resulting in a convex facial profile by early adolescence.

Team management and treatment outcomes for patients with hemifacial microsomia.

INTRODUCTION: Hemifacial microsomia is the most common congenital craniofacial anomaly after cleft lip and palate. The purpose of this study was to evaluate the final outcome of team care for patients with hemifacial microsomia after a protocol of growth management, orthodontic treatment, orthognathic surgery, and soft-tissue augmentation. METHODS: This was a retrospective study with chart reviews, radiographs, and photographs to document the treatment interventions and outcomes. Six patients, 2 in each of 3 mandibular types, who had recently completed treatment and had complete records available and were not previously reported, were included. Facial midlines and maxillary and mandibular deviations from the midline were measured. RESULTS: The maxillary deviation changed by 10.0 ± 4.6 mm to a deviation from the midline of 1.1 ± 0.6 mm. The chin deviation improved by 8.1 ± 2.7 mm to a mean distance of 0.6 ± 0.5 mm from the midline. The occlusal plane can't changed from 7.0° ± 4.2° to 2.3° ± 1.4°. All changes were significant. CONCLUSIONS: Facial asymmetry in patients with hemifacial microsomia can be significantly improved by stepwise orthodontic treatment, orthognathic and facial surgery, and soft-tissue augmentation. As for most craniofacial conditions, team care is essential.

Craniofacial team management in Apert syndrome.

INTRODUCTION: Apert syndrome is one of the rarest of the craniosynostosis syndromes. Affected persons have extensive structural and functional impairments, some of which can be life threatening. Management requires team care from infancy to adulthood. The purposes of this article are to assess the outcomes in individuals with Apert syndrome after completion of treatment and to review current protocols for craniofacial team care and dental, orthodontic, and orthognathic surgical management. METHODS: This was a retrospective cohort study of 8 subjects with Apert syndrome. Cephalograms at 2 time points were compared: adolescence (before midface advancement) and at least 1 year after advancement. The cephalometric values were compared with paired t tests. Team protocols are delineated. RESULTS: Measurements indicating forward positioning of the maxilla increased significantly: SNA by 10.7° (P = 0.002) and midface length by 9.6 mm (P = 0.002). Sagittal jaw relationship improved significantly as well: ANB by 14° (P = 0.004) and the Wits appraisal by 8 mm (P = 0.003). Vertical dimensions also increased. CONCLUSIONS: All individuals had significantly improved and stable positions of the midface and normalized facial profiles after treatment.

Parameters of care for craniosynostosis: dental and orthodontic perspectives.

INTRODUCTION: A multidisciplinary conference was convened in March 2010 with the charge to develop parameters of care for patients with craniosynostosis. The 52 participants represented 16 medical specialties and 16 professional societies. Herein, we present the dental, orthodontic, and surgical care recommendations for those with craniosynostosis, with special emphasis on craniosynostosis syndromes. METHODS: Plenary and small-group iterative discussions were held to draft specialty-specific parameters of care. All participants reviewed and discussed each specialty-specific document. Special care was taken to ensure cross-discipline interactions, recognizing the importance of interdisciplinary team care. RESULTS: A unified document was produced delineating longitudinal care parameters from prenatal assessment and consultation to adulthood in all the represented specialty areas. The dental and orthodontic care parameters from infancy to adulthood are explained in terms of stages of development and coordinated with interdisciplinary assessments and interventions. CONCLUSIONS: The consensus document provides a detailed description of physical, functional, and cognitive development in persons with craniosynostosis and recommends staged team observations and interventions. The expectation is that the document will help to ensure state-of-the-art care for patients with craniosynostosis and provide a generally acceptable framework for collaborative studies.

Velopharyngeal, speech and dental characteristics as diagnostic aids in 22q11.2 deletion syndrome.

This study examines velopharyngeal, speech, and dental parameters as possible diagnostic aids in 22q11.2 deletion syndrome. It is a retrospective study on 56 individuals. Twenty-one percent had a submucous cleft palate and 41 percent required palate surgery for speech. Common dental findings included poor oral hygiene, multiple carious lesions, congenitally missing teeth, class II malocclusion, and open bite.There are common findings that can aid the dental practitioner in recognizingthe syndrome and make appropriate referrals.

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.

We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in EFNB1. The female proband presented with hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have hypertelorism, telecanthus, widow's peak, and a history of pectus carinatum. He was found to have a previously unreported mutation in exon 5 of EFNB1 predicted to cause premature protein truncation. The parents of the proband previously had a female fetus with congenital diaphragmatic hernia. The occurrence of congenital diaphragmatic hernia, phenotypic differences between males and females, and utility of molecular testing in craniofrontonasal syndrome are demonstrated.

Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.

The authors report a new case of Beare-Stevenson syndrome (BSS) characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, ear defects, a prominent umbilical stump, and midface hypoplasia. The patient had dental findings of natal teeth and hypodontia of the primary and permanent teeth. This is the second patient with BSS syndrome to be reported with hypodontia and natal teeth; the first patient was described by Beare in 1969. The authors review the current literature to investigate the relationship between dental anomalies and fibroblast growth factor receptor-related mutations in BSS and other craniosynostosis syndromes such as Apert, Crouzon, and Pfeiffer.

Three-dimensional assessment of the eruption path of the canine in individuals with bone-grafted alveolar clefts using cone beam computed tomography.

OBJECTIVE: To evaluate the eruption path of the permanent maxillary canine during a 1-year period after secondary alveolar bone grafting and to (1) compare the canine eruption path on the cleft and noncleft side, (2) examine the number of congenially missing lateral incisors and the rate of canine impaction, and (3) examine the relationship between the eruption status of the canine and timing of alveolar bone grafting relative to age and canine root development using cone beam computed tomography (CBCT). METHODS: Cone beam computed tomography scans for 17 nonsyndromic unilateral cleft lip and palate (UCLP), and four bilateral cleft lip and palate (BCLP) consecutive cases of alveolar bone grafting surgery were obtained after orthodontic expansion and before alveolar bone grafting and at least 1 year postsurgery on the Hitachi MercuRay CBCT machine. The DICOM files were imported into Dolphin 3D Imaging 10.5 and reoriented for consistency. The X, Y, and Z coordinates were determined for the canine cusp tip and root tip on both the cleft and noncleft sides. The direction of movement of the canine in 1 year was determined. RESULTS: Most canines on both the cleft and noncleft sides moved incisally, facially, and mesially. Twelve percent of the canines on the cleft side appeared to require surgical exposure. Eighty percent of the canines had less than half root development at the time of bone grafting. The amount of root development did not affect the outcome in terms of eruption amount or direction. CONCLUSIONS: Most canines on both the cleft and noncleft side moved incisally, facially, and mesially.

Team care for the patient with cleft: UCSF protocols and outcomes.

To meet the medical, dental, and psychologic needs of the individual with a complex craniofacial birth defect such as cleft lip and palate, a team of specialists must be involved. The currently accepted standards of care can only be met if the appropriate specialists work together in the diagnostic workup and in the immediate and long-term planning and execution of the various treatment modalities required. This concept is clearly stated in the "Parameters" document published by the American Cleft Palate-Craniofacial Association in 2004 (Cleft Palate Craniofac J 1993;30[Suppl]:S1-16).Not only does the interdisciplinary team care provide the best overall outcomes for the patient but also is the most efficacious and cost-effective way of meeting the goals of treatment. Interdisciplinary cleft team members should also be a resource in educating parents, students, and other health care providers and may be participants in research on prevention, interception, or regeneration. We present in this article the protocols and treatment outcomes of the University of California at San Francisco.

The role of endosseous implants in the management of alveolar clefts.

In individuals with cleft lip and palate, there is a high prevalence of hypodontia, particularly of the maxillary lateral incisor on the cleft side. The edentulous space in patients with a repaired alveolar cleft was traditionally treated with a fixed or removable partial denture, but this approach is not optimal. The purpose of this paper was to review the dental literature for infant orthopedic treatment, timing of alveolar bone grafting, timing of implant placement, and type of implants used in individuals with repaired alveolar clefts. There seems to be a consensus in the literature that the optimal timing for initial secondary alveolar bone grafting is between 8 and 11 years of age. Implants cannot be placed this early but should be placed within 6 months of augmentation bone grafting to avoid resorption of the grafted area. Longer implants--those at least 13 mm in length--reportedly have a higher survival rate compared to shorter implants. Other implant parameters such as surface characteristics and diameter do not seem to influence significantly the long-term longevity of implants placed into grafted alveolar clefts.

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.

Opitz G/BBB syndrome is characterized by midline abnormalities such as hypertelorism, cleft palate, and hypospadias. This syndrome is heterogeneous with an X-linked recessive form caused by mutations in the MID1 gene at band Xp22.3. However, mutations in MID1 have only been identified in 47% of familial cases of X-linked Opitz G/BBB syndrome, and 13% of sporadic cases. We performed a phenotype-genotype analysis of a group of nine new patients with clinical characteristics commonly seen in Opitz G/BBB syndrome, and of previously reported patients. We identified a novel mutation in exon 9 of the MID1 gene, c.1941insTGAGTCATCATCC, leading to a premature termination codon at amino acid 514 in a patient with hypertelorism, apparently low-set ears, a short philtrum, bilateral cleft of lip and palate and hypospadias. This mutation affects the PRY domain of the C-terminus of the MID1 protein.

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.

We report a 20-year-old man with trismus-pseudocamptodactyly (TPS) syndrome who was found to have the same MYH8 mutation, p.R674Q, described in previous families with TPS syndrome and in one family with a Carney complex variant, trismus and pseudocamptodactyly. This patient had facial asymmetry, ptosis and downslanting palpebral fissures and multiple joint involvement, with bilateral hip dysplasia, reduced elbow supination, vertical tali and talipes in addition to the classical findings of trismus and pseudocamptodactyly. These findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of TPS syndrome.

Hemimaxillofacial dysplasia: a variable presentation.

We report a case of hemimaxillofacial dysplasia followed in our clinic for 34 years. A recent literature review has brought to our attention that the subject may have a variant of hemimaxillofacial dysplasia, but with some unique features. The reconstruction procedures are detailed, and long-term follow-up findings are described.

Taurodontism and Van der Woude syndrome. Is there an association?

OBJECTIVE: To report the occurrence of taurodontism in a clinical sample of Van der Woude syndrome (VWS) and describe its association with hypodontia and cleft type. MATERIALS AND METHODS: This retrospective, cross-sectional study was carried out on chart reviews and radiographs of 13 persons with VWS. Mean age was 10 years 11 months +/- 1 year 5 months. Panoramic radiographs were used to confirm the presence or absence of teeth and to measure crown body and root lengths of mandibular first molars. Three-dimensional cone beam computed tomography (CT) scans were available on two persons with VWS. Both volumetric and linear measurements were obtained. RESULTS: The occurrence of taurodontism of the mandibular first molar was 35%: 27% hypodont and 8% mesodont. Of the 13 subjects with VWS, 6 (4 males and 2 females) had at least one tooth identified with taurodontism. Half of the cases were unilateral and half were bilateral, and all of the unilateral cases were on the left side. Five of the six subjects with taurodontism had missing incisors and premolars. Taurodontism was two times more frequent in those who were missing their second premolars than in those who had their second premolars. There was no correlation between cleft type and presence of taurodontism. The cone beam CT pilot study on two persons showed very abnormal morphology of both crown and roots, which was not apparent on the standard panoramic radiograph. Both the volumetric and linear measurements of the ratio of crown body to root were highly indicative of taurodontism. Further genetic studies are needed. CONCLUSION: There is a likely association between VWS and taurodontism.

Using implants for the growing child.

The use of implants for the growing child is not routinely recommended. The concerns about placing implants for patients in this age group are related to jaw growth. However, not all children with missing teeth need to wait for growth to be completed prior to implant placement. In this paper, the authors will discuss the indications for implant placement in the growing child. The decision for implant placement is based not only on growth, but also the number and location of the missing teeth.

Orthodontic and surgical management of cleidocranial dysplasia.

Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, is mainly caused by mutations in Runx2, a gene required for osteoblastic differentiation. It is generally characterized by hypoplastic clavicles, narrow thorax, and delayed or absent fontanel closure. Importantly, its orofacial manifestations, including midfacial hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth, severely impede the well-being of affected individuals. Successful treatment of the orofacial problems requires the combined efforts of dental specialists. However, only a few successfully treated cases have been reported because of the rarity of CCD and complexity of the treatment. This article presents the University of California, San Francisco (UCSF) treatment protocol for the dentofacial manifestations of CCD based on two treated and 17 diagnosed cases. The records of two patients with CCD who had been treated at the UCSF School of Dentistry and the treatment options reported in the literature were reviewed. The UCSF treatment protocol produced a successful case and a partially successful one (inadequate oral hygiene in the retention stage resulted in decay and loss of teeth). It provides general guidelines for successfully treating the orofacial manifestations of CCD.

Volumetric assessment of secondary alveolar bone grafting using cone beam computed tomography.

OBJECTIVE: To assess the radiographic outcome of secondary alveolar bone grafting in individuals with nonsyndromic unilateral or bilateral cleft lip and palate using cone beam computed tomography. METHODS: This prospective study was conducted at the University of California at San Francisco Center for Craniofacial Anomalies on 21 consecutive nonsyndromic complete cleft lip and palate individuals between 8 and 12 years of age who required alveolar bone grafting. Seventeen unilateral and four bilateral cleft lip and palate individuals had preoperative and postoperative cone beam computed tomography scans that were analyzed using Amira 3.1.1 software. RESULTS: The average volume of the preoperative alveolar cleft defect in unilateral cleft lip and palate was 0.61 cm(3), and the combined average volume of the right and left alveolar cleft defects in bilateral cleft lip and palate was 0.82 cm(3). The average percentage bone fill in both unilateral cleft lip and palate and bilateral cleft lip and palate was 84%. The outcome of alveolar bone grafting was assessed in relation to (1) type of cleft, (2) size of preoperative cleft defect, (3) presence or absence of lateral incisor, (4) root development stage of the maxillary canine on the cleft side, (5) timing, and (6) surgeon. None of these parameters significantly influenced the radiographic outcome of alveolar bone grafting. CONCLUSIONS: Secondary alveolar bone grafting of the cleft defect in our center was successful, based on radiographic outcome using cone beam computed tomography scans. Volume rendering using cone beam computed tomography and Amira software is a reproducible and practical method to assess the preoperative alveolar cleft volume and the adequacy of bone fill postoperatively.

Morphologic and management characteristics of individuals with unilateral cleft lip and palate who required maxillary advancement.

OBJECTIVE: To delineate factors that may contribute to maxillary hypoplasia requiring maxillary advancement surgery in individuals with nonsyndromic unilateral cleft lip and palate (UCLP). METHODS: This retrospective, longitudinal study used lateral cephalometric radiographs and chart reviews of 16 nonsyndromic UCLP individuals who underwent Le Fort I maxillary advancement and 16 controls matched for cleft type, age, and gender. Cephalometric measurements were made at three time points (T1, T2, and T3): mean ages of 10.7, 13.3, and 15.8 years for the Le Fort group and 10.11, 12.9, and 15.7 years, respectively, for the control group. Information regarding team care, timing and number of surgical procedures, and number of congenitally missing teeth were determined from clinical records. RESULTS: The Le Fort group had significant maxillary hypoplasia at all time points compared to the UCLP controls, indicated by midface length measurements, ANB and Wit's analysis (p < .001). The Le Fort group had twice the number of palatal surgical procedures and number of missing teeth in the maxillary arch as compared with the cleft controls. Most of the control group had consistent team care, while most of the surgical group did not. CONCLUSIONS: Maxillary hypoplasia that will require a Le Fort I advancement can be determined as early as age 10. Multiple missing maxillary teeth, secondary palate procedures including pharyngeal flaps, and inconsistent team care with delayed orthodontic intervention are contributing factors to maxillary underdevelopment.