Orthopedic and orthodontic treatment of Parry-Romberg syndrome

Parry-Romberg syndrome (PRS) is a degenerative disease characterized by progressive hemifacial atrophy of soft and hard tissues. A 10-year-old girl who had been treated for linear scleroderma at the dermatologic department since the age of 9 years visited the orthodontic department. The frontal facial photograph showed mild facial asymmetry. On the left side, mild atrophy of soft tissue, mild enophthalmos, cheek depression, and dry skin with dark pigmentation were observed. The radiograph showed hypoplasia of both the maxilla and mandible on the left side. Intraorally, she was in the mixed dentition with the dental crowding. This case report describes the treatment of a patient with PRS for 7 years. To minimize the effect of progressive atrophy on facial growth, a functional appliance was used. The facial photographs and radiographic records were periodically taken to analyze the progression of PRS. Although it is impossible to prevent the progress of facial asymmetry, it appears to be possible to limit the atrophic effect on the mandible by stimulating the mandibular growth. After stabilization of PRS, orthodontic treatment by fixed appliance was performed. In addition, autologous fat graft was performed 3 times at 6-month intervals. After the treatment, the patient had a confident smile, and facial asymmetry was improved.     

Subperiosteal release of the floor of the mouth in airway management in Pierre Robin sequence

Procedures to relieve airway obstruction in Pierre Robin sequence (PRS) include glossopexy, mandibular distraction, and tracheostomy. Previously, it has been suggested that the imbalance of the genioglossus insertion on the mandible could be responsible for the micrognathia, tongue elevation, and glossoptosis seen in PRS. We performed a retrospective study to determine the usefulness of subperiosteal release of the floor of the mouth in PRS with airway problems. Between 1991 and 2005, 14 consecutive patients with PRS were treated with subperiosteal release of the floor of the mouth performed at the British Columbia's Children's Hospital. There were 8 boys and 6 girls. Mean age at surgery was 15 weeks (range, 1-68 weeks). Postoperative follow-up ranged from 8 months to 13 years. Seven patients (4 boys and 3 girls) were successfully treated, and a tracheostomy was prevented. Fifty-five percent of the syndromic patients needed a tracheostomy, whereas 1 patient (33%) with isolated PRS needed a tracheostomy. The most common syndrome associated with PRS was Stickler syndrome. Five (72%) of the 7 patients who required a tracheostomy were boys. If conservative measures fail to relieve supraglottic airway obstruction seen in patients with PRS, a subperiosteal release of the floor of the mouth can be an effective intervention in certain patients. It is a simple intervention with few complications and little morbidity. More investigations are mandatory to precisely define patient characteristics ideal for this intervention.     

Orthognathic surgery in Melnick–Needles syndrome: a review of the literature and report of two siblings

Melnick–Needles syndrome (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism. Dental features may include anodontia, hypodontia, or oligodontia. Increased collagen content, unpredictable collagen synthesis, and abnormal bony architecture have raised concerns regarding bone splitting intraoperatively and bone healing postoperatively. This report describes the cases of two sisters with MNS, who successfully underwent orthognathic surgery consisting of bilateral mandibular ramus osteotomies combined with advancement genioplasty and iliac crest bone grafting, to correct the classical MNS facial deformity of mandibular retrognathia.     

Weight gain in infants with Pierre Robin sequence

ObjectiveTo determine weight gain during treatment with the modified palatal plate (MPP) in infants with isolated and syndromic Pierre Robin Sequence (PRS) suffering from micrognathia, upper airway obstruction (UAO), and failure to thrive (FTT), the authors conducted a retrospective study of infants treated with the MPP.MethodsThe main outcome measure was infant weight (g) for up to three months after birth. Demographic and outcome data (associated syndromes, comorbidities, presence of cleft lip or palate, intubation attempts, tracheotomy and cleft repair) were collected.Results14 children born January 2010 - December 2019 were included. The majority (86%) of infants showed highly significant weight gain (p < 0.001) within a 3-month period (mean pretreatment weight 3147 g with a SD of 425 g vs mean weight at three months 4435 g with a SD of 635 g). Syndromic PRS was found in 7% of infants. 43% of nonsyndromic PRS patients were found to have other congenital anomalies. Genetic testing showed normal karyotypes in 93% of infants and a microdeletion in 7% of infants. 21% of infants required tracheotomy, but no patients required mandibular distraction (MDO) or tongue-lip adhesion (TLA) to relieve UAO.ConclusionPRS infants treated with the MPP showed highly significant weight gain within a 3-month period and did not require mandibular surgery for early airway management, but faster gain of weight might have implications for strategies to perform surgery at an earlier point in time.     

Mandible, tongue, and airway in Pierre Robin sequence: a longitudinal cephalometric study.

The purpose of this retrospective longitudinal cephalometric study was to analyze size, growth, and relations of the mandible, tongue, and airway in the isolated, nonsyndromic Pierre Robin Sequence (PRS) infant. The objective was to understand better the early morphologic changes that occur in these structures. The data were obtained from lateral cephalometric radiographs taken in the first 2 years of life on 17 PRS infants, 26 isolated cleft palate (CP), and 26 normal control (N) infants. Mean values of each variable were compared using a univariate analysis of variance. A multivariate discriminant function analysis (DFA) was also used to characterize group differences. The three groups were distinct throughout the period of study. Differences were greater at the earliest age and the distinction was greater between the PRS and N infants with the CP infant in between, but having more similarity to the PRS infant. Initially, the PRS infant had a shorter tongue and mandibular length, narrower airway, smaller tongue area and the hyoid position was more posterior and inferior as compared to N. The tongue shape and position were specific to the PRS infants. This group distinction diminished with age and resulted from an increased mandibular growth rate in the PRS infant. These findings support the hypothesis of "partial mandibular catch-up growth" in the PRS infant. The increased growth rate in the PRS infant improved the airway dimension, which might be partly responsible for the natural resolution of the respiratory distress. This increased growth rate did not allow for the various structures to reach values equal to normal.     

Pierre Robin sequence from orthodontic and surgical perspective

Pierre Robin sequence (PRS) is a triad of micrognathia, glossoptosis, and cleft palate that results in an obstruction of the airway on inspiration and impeding feeding. The tongue of infants with PRS fall back toward the posterior pharyngeal wall (glossoptosis) due to receding chin produced by mandibular micrognathia (small jaw) or retrognathia. This causes a serious condition with potentially severe, life-threatening airway obstruction. If untreated, this problem can lead to exhaustion, cardiac failure, and ultimately death, especially during the early months of life. Actually, in the majority of PRS infants, these symptoms can be managed by placing the infant in the prone position until adequate growth of the jaw occurs. If this type of treatment fails, the infant then should be considered for other conservative therapies or surgical interventions. This paper reviews surgical interventions such as tongue-lip adhesion, mandibular traction, mandibular distraction, tracheotomy and conservative orthodontic approaches, and presents a baby treated successfully with an orthodontic appliance.     

Craniofacial bone atrophy in Parry Romberg syndrome demonstrated using a Bayesian hierarchical model

PurposeParry Romberg syndrome (PRS) is a condition characterized by progressive hemifacial atrophy, predominantly affecting the soft tissues. Associated bone retraction is a common clinical feature of PRS but has never been assessed. Here we used 3D imaging and Bayesian statistics in order to demonstrate and quantify bone atrophy in PRS.Materials and methodsTen non-operated patients with PRS (4/10 males) and 12 age-matched controls (7/12 males) were included into the study. The average age at CT-scan was 9.67 ± 4.13 years for PRS patients and 12.5 ± 4.37 years for controls. Soft and hard tissue atrophy levels were quantified using computed tomography scans, based on the distances between surfaces of the affected side and the non-affected contralateral side, both for the skin and the bone. We used a hierarchical Bayesian model with clinical priors in order to assess the relationship between hard and soft tissue atrophies.ResultsPRS patients had significant hard tissue atrophy, and atrophy extents were similar for soft and hard tissues. There was a trend for a correlation between the extent of hard tissue retraction and the extent of soft tissue retraction, and we could not demonstrate that the relationship between hard and soft tissue retractions was different in PRS and controls.ConclusionOur results indicated that bone atrophy was most probably a primary process rather than a phenomenon secondary to soft tissue retraction. We have provided the first assessment of bone atrophy in PRS patients using Bayesian statistics.     

Distraction osteogenesis in patients with craniofacial anomalies

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.     

Craniofacial and dental manifestations of Proteus syndrome: a case report.

The Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, sometimes involving the face. Common manifestations include partial gigantism, congenital lipomas, and plantar hyperplasia. In this report we describe the craniofacial clinicopathological development in a girl with Proteus syndrome from age 6 to 20 years. The patient had pronounced hemifacial hypertrophy, exostoses in the left parietal region, and enlargement of the inferior alveolar nerve and mandibular canal in the affected region. The dental development of the affected left mandible and maxilla was characterized by extremely premature development and eruption of the primary and permanent teeth and by pronounced idiopathic root resorptions. The multidisciplinary management of the patient and the treatment outcome is reported. A review of the Proteus patients in the literature who exhibited manifestation in the craniofacial region is presented.     

Mandible traction with wires for the treatment of upper airway obstruction caused by Pierre Robin sequence in Chinese infants: Preliminary findings

Pierre Robin sequence (PRS) is a congenital abnormality that may cause upper airway obstruction requiring surgical intervention. This preliminary study aimed to examine the feasibility and effectiveness of mandible traction with wires for the treatment of upper airway obstruction caused by PRS in Chinese infants. Measures of interest included transcutaneous oxygen saturation before and after surgery, duration of surgery and traction, complications, and CT findings. Seven infants were included in the study (mean birth weight: 2485 g, range: 2405–2570 g); four were born preterm and three were born full term. Mean age at surgery was 13.7 days (range: 2–28 days), mean duration of surgery was 16.6 min (range: 13–25 min) and mean duration of traction was 26.6 days (range: 21–35 days). Mean follow-up was 6.2 months (range: 1–11 months). No infant experienced severe complications. All infants experienced increases in transcutaneous oxygen saturation after surgery. Mean transcutaneous oxygen saturation was 82% before surgery and 98% after surgery. Follow-up morphology of the mandible was excellent. There was no upper airway obstruction, and short-term growth and development were satisfactory. These preliminary findings suggest that mandibular traction with wires may be an effective treatment for upper airway obstruction caused by PRS in Chinese infants.     

Congenital mandibular hypoplasia: analysis and classification

Mandibular hypoplasia is a frequently encountered craniofacial difference and can be classified into three groups: congenital, developmental, and acquired. The focus of this article is on the congenital group, the majority of which is associated with syndromes. There have been numerous publications on patients with syndromic congenital mandibular hypoplasia; however, there has been no investigation and differentiation of the "nonsyndromic" patients. The purpose of this study was to analyze this subgroup of patients with nonsyndromic congenital mandibular hypoplasia to determine incidence, clinical presentation, and treatment.A retrospective analysis of all children treated for congenital mandibular hypoplasia at the Children's Hospital of Philadelphia between 1975 and 2003 was performed. Two hundred sixty-six patients were identified during this 27-year period. Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous syndromes. The remaining 18 patients were identified as having congenital mandibular hypoplasia without any known syndrome.Of the 18 patients with nonsyndromic congenital mandibular hypoplasia, 17 had primary bilateral growth anomalies and 1 had a primary unilateral growth disturbance resulting in bilateral deformity. Seven patients were products of a complicated pregnancy, 10 patients required tracheotomy or prolonged intubations, and 7 required gastric tube feedings. Associated anomalies included temporomandibular joint ankylosis in five patients, aglossia/microglossia in three patients, and rare craniofacial clefts in three patients. The average number of procedures required to treat the mandibular deformity for each patient was six.Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup. Case reports illustrating the range of mandibular deformities are presented.     

Impact of early intravelar veloplasty at six months on mandibular growth in patients with Pierre Robin Sequence

Pierre Robin Sequence (PRS) combines mandible microretrognathia, asynchronism of the pharynx and tongue, glossoptosis and, in some cases, cleft palate. Its principal functional consequences are respiratory and feeding problems during the neonatal period.In this study, we focused on the impact of early closure of the cleft at six months on mandibular growth in patients with PRS.We performed a retrospective study of 15 patients followed for PRS and undergoing surgery performed by the same senior surgeon (HB) at our cleft center between 2005 and 2012. These patients underwent early closure of the cleft (at a mean age of 5.87 months) by intravelar veloplasty, as described by Sommerlad.Only one article with exploitable data analyzing facial and mandibular growth in a cephalometric study of children with PRS has been published. The children in this series, constituting the control group for our study, underwent veloplasty between the ages of 12 and 18 months, often accompanied by labioglossoplasty, and the cephalometric study was carried out between the ages of four and seven years. We compared this control group in which surgery was performed at 12–18 months with our series of children undergoing surgery at six months, in a cephalometric study based on teleradiographic profile measurements performed between the ages of four and seven years.We found that early closure of the cleft soft palate yielded results identical to those for the control group in terms of mandibular growth, without the need for labioglossopexy. Finally, early intravelar veloplasty led to early functional improvement in terms of speech and phonation.     

Management of cleft palate among patients with Pierre Robin sequence

Pierre Robin Sequence (PRS) is a congenital craniofacial anomaly distinguished by the presence of micrognathia, glossoptosis, and upper airway obstruction. Cleft palate occurs in over 3/4 of patients with PRS. The wide U-shape cleft and airway dysfunction create challenges in clinical management. Currently, disputes exist on the treatment protocol and prognosis of cleft palate management among patients with PRS. This review is focused on the deformity features, intervention timing, technique selection, airway support, and outcome evaluation of cleft palate among patients with PRS, aiming to provide reference to further evolution in the management of PRS-related cleft palate.     

Short-term condylar and glenoid fossa changes in infants with Pierre Robin sequence undergoing mandibular distraction osteogenesis

The purpose was to evaluate short-term changes in condylar and glenoid fossa morphology in infants with Pierre Robin sequence (PRS) undergoing early (age <4 months) mandibular distraction osteogenesis (MDO) for the management of severe airway obstruction. Computed tomography data from infants with PRS who had MDO were compared to those of age-matched control infants without facial skeletal dysmorphology. Surface/volume, linear, and angular measurements of the condyle and glenoid fossa were obtained and compared between infants with PRS and controls. Eleven infants with PRS met the inclusion criteria. There were five female and six male subjects with a mean age at the time of MDO of 41 ± 32 days. Prior to MDO, PRS mandibles had a smaller condylar articulating surface area and volume than age-matched control mandibles, with a more laterally positioned condylar axis (P ≤ 0.05). Following MDO, there were significant increases in condylar articulating surface area and volume, approaching those of normal controls, with further lateral translation of the condylar axis (P ≤ 0.05). Condyle and glenoid fossa morphology is largely normalized following early MDO in infants with PRS. The condylar axis translates laterally as a result of MDO; this change is not observed with mandibular growth in infants without PRS.     

Sleep apnea syndrome in an adult patient with mandibular hypoplasia

Sleep apnea syndrome is a condition which may be related to mandibular hypoplasia of a congenital as well as developmental nature. It is extremely unusual in adults; however, a case of sleep apnea syndrome gradually developing in an adult patient is illustrated in this report. Correction by means of maxillary and mandibular osteotomies was indicated.     

A case of klippel-feil and turner syndromes

The purpose of this paper was to describe the clinical case of a 12-year-old female patient with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP). The patient's general appearance was characterized by KFS, a clinical triad consisting of congenital fusion of at least 2 of 7 cervical vertebrae with a short neck, limited head motion, and a low posterior hairline. Three-dimensional images from cone-beam computed tomography (CBCT) revealed cervical vertebrae anomalies and submucous CP. It was reported that the patient had TS and has been administered growth hormone (GH) therapy. Due to a skeletal Class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, GH's effects on the craniofacial complex should be considered before orthopedic/orthodontic treatment is started.     

Abnormal bone masses in Klippel-Feil syndrome.

Five female patients with Klippel-Feil syndrome (KFS) are presented with abnormal bony masses in the mandibular ramus region. The features of KFS are described with assessment and treatment of the five patients. Although congenital duplication of mandibular rami in KFS has been previously documented, we believe this is the first series of patients with this deformity.     

Prosthodontic Management of a Patient with Moebius Syndrome: A Clinical Report

Moebius/M?bius Syndrome (MS) is an extremely rare congenital disorder characterized by uni‐ or bilateral palsy of the abducens (VI) and the facial (VII) nerves, causing facial paralysis. Dysfunction of cranial nerves III through XII is common, most often the glossopharyngeal (IX) and hypoglossus (XII). Afflicted individuals seeking prosthodontic care, particularly removable prosthetics, present multiple challenges related to inherent facial and tongue muscle weakness and microstomia. Other extraoral anomalies may include congenital multiple arthrogryposis and malformations of the upper and lower limbs. This clinical report describes the rehabilitation of a patient with Moebius Syndrome using a maxillary 2‐implant retained overdenture and mandibular partial removable denture prosthesis.     

Pseudoankylosis of the temporomandibular joint caused by zygomatic malformation

Temporomandibular joint (TMJ) pseudoankylosis is characterized by limited mouth opening and mandibular movements, resulting from factors outside the joint. The authors present a case of TMJ pseudoankylosis caused by congenital zygomatic malformation and hyperplasia of the coronoid process. Treatment with coronoidectomy and postoperative physiotherapy achieved favorable results.     

儿童先天性肌性斜颈患者下颌骨对称性评估

目的：分析儿童替牙期先天性肌性斜颈患者颅面部对称性，评估颅面结构与颈部结构间相关关系，探讨颈部结构、功能改变对颅面部生长、发育的影响。方法：选择替牙期先天性斜颈20例，拍摄头颅后前位定位片，测量、分析双侧下颌骨形态、位置对称性。结果：先天性肌性斜颈患者颏部向受累侧偏斜，偏斜侧下颌骨体部长度较对侧减小，下颌升支长度、髁突宽度、髁突高度与对侧无显著性差异。下颌骨各解剖标志点位置对称性分析结果表明：先天性肌性斜颈患者下颌骨双侧解剖标志点位置差异较大，表现为相对面下部垂直基准线（ANS-Me）及水平基准线（HRL），对侧各解剖点位置向患侧旋转，从而加剧了偏斜侧垂直高度较对侧减小的程度。结论：先天性肌性斜颈可以导致下颌骨发育畸形，颈部结构与功能对下颌骨的生长发育存在重要影响作用。