Early Surgical Intervention of Congenital Syngnathia.

Congenital syngnathia is a rarely reported malformation when there is a fusion between the maxilla and the mandible. It is necessary to modify it in childhood because congenital syngnathia causes incongruity in pronunciation, diet, and esthetics during the growth process. In this case report, 1 case of syngnathia, a rare craniofacial anomaly, is presented with a review of reports. Prompt diagnosis and surgery were performed right after birth for the present case. A partial limitation point was resolved for further growth. Herein, the authors present the case of a female infant (7 d after birth) diagnosed with congenital syngnathia and treated by early surgical intervention.

Syngnathia-Congenital Maxillomandibular fusion: Case Report and Literature Review.

Congenital maxillomandibular fusion is a rare disorder of the craniofacial region. Maintenance of the airway and difficulty in feeding are the main concerns for such patients. We performed a PubMed search to identify reported cases of syngnathia. With reference to the site of fusion and corresponding anomalies, the available studies were reviewed. The maxillomandibular fusion can be anterior fusion, unilateral or bilateral fusion, and complete fusion. The condition can be an isolated problem or associated with a syndrome. The condition requires immediate attention because it can be fatal. A case of isolated unilateral syngnathia, with the detailed review of the published data, is reported.

Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases.

PURPOSE: To report 4 cases of Marcus Gunn jaw-winking synkinesis (MGJWS) in the absence of ptosis. METHODS: A retrospective review of patients with MGJWS and congenital ptosis was compiled from the public and private subspecialty adult and pediatric oculoplastic practices of the 2 senior authors (AAM, TGH). Clinical data collected on patients with MGJWS included visual acuity, stereopsis, ocular motility, side of jaw-wink, presence or absence of ptosis, levator function, clinical photographs and videos, and any management undertaken. RESULTS: A total of 848 cases of congenital ptosis were seen. Of these, there were 72 consecutive patients with MGJWS, of which 4 cases (5.6%) had no ptosis. One patient had bilateral MGJWS, with ptosis on one side only. The authors found the incidence of MGJWS in our study population to be 8.5% of all congenital ptosis cases. When the authors excluded syndromic, neurogenic, and myopathic causes of congenital ptosis, the incidence was 12.1%. In addition, the authors found a trend toward females with simple congenital ptosis and MGJWS being affected on the left side, however this was not statistically significant. CONCLUSIONS: The authors report the first case series of MGJWS in the absence of ptosis within the second largest series ever reported. These findings may help further our understanding of the etiology behind MGJWS.

Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest.

Syngnathia is a rare malformation involving soft tissue and/or bony adhesions between the maxilla and mandible. Less than 40 patients have been reported in the literature. Here the authors report a 6-month-old infant diagnosed as syngnathia of the palate and mouth floor combined with cleft palate and funnel chest in the Department of Oral and Maxillofacial Surgery at Henan Provincial People's Hospital in January 2015. The authors discussed and evaluated the diagnostic and treatment difficulties on surgical and anesthetic procedure. There is no standard treatment protocol, but early treatment is necessary to improve airway functions and infant feeding, and to support proper nutrition for the growth of maxillofacial region.

Changes in Soft Tissue Measurements After Mandibular Distraction Osteogenesis.

BACKGROUND: Mandibular distraction osteogenesis is the process of generating new bone in a gap between 2 bone segments in response to the application of graduated tensile stress across the bone gap. These distraction forces applied to bone also create tension in the surrounding soft tissues resulting in simultaneous expansion of the functional soft tissue matrix. AIM: To investigate and evaluate the changes in facial soft tissue following mandibular distraction osteogenesis and their relationship with the changes in bone movements. MATERIALS AND METHODS: Mandibular elongation of 13 patients was done by the use of bilateral distraction osteogenesis in 10 patients and unilateral distraction osteogenesis in 3 patients, soft tissue evaluation was done by measuring 4 facial lines (tragus-commissure of mouth, lateral canthus-commissure of mouth, medial canthus-commissure of mouth, and lower lip length). The measurements were done by the use of measurement tape preoperatively and after the consolidation period. RESULTS: Soft tissue changes were observed in all patients. There was highly significant increase in tragus-commissure line in all patients, significant increase in lateral canthus-commissure line in 10 patients, and significant increase in medial canthus-commissure line and lower lip length in 9 patients. The lines' relation with the overjet was highly significant in right side of tragus-commissure line, lateral canthus-commissure line, medial canthus-commissure line, and lower lip length, and significant in left side of tragus-commissure line, lateral canthus-commissure line, and medial canthus-commissure line CONCLUSION:: Distraction osteogenesis has recognizable effect on facial soft tissue profile in addition to its effect on skeletal structure.

Malposition of Teeth and Jaws in Patients with Congenital Superior Oblique Palsy.

BACKGROUND: Patients with congenital superior oblique palsy tend to adopt a head tilt to the contralateral side to maintain binocular single vision. It has long been recognised that facial asymmetries may be caused by a head tilt. The aim of this study was to describe the effect of habitual head tilt due to congenital superior oblique palsy on dental occlusion. PATIENTS AND METHODS: The study was designed as a descriptive cohort study. Ten patients with congenital superior oblique palsy (3 female, 7 male; mean age 51.7 (y) ± 15.8 SD, ranging from 19 to 69 (y)) underwent orthodontic examination. Orthodontic findings and values for vertical, torsional and horizontal deviation measured with the Harms tangent screen and stereopsis using a random dot test were compared. RESULTS: Three orthodontic parameters were found to correlate significantly or at least as trend with orthoptic parameters. Midline deviation of the upper jaw to the face (rho = 0.623; p = 0.054) and anterior positioning of upper first molar in the sagittal plane (rho = 0.594; p = 0.07) correlate with the vertical deviation; overbite correlates with horizontal deviation measured in the primary position (rho = 0.768; p = 0.016). CONCLUSIONS: In this small study, three orthodontic parameters correlated with orthoptic findings in patients with congenital superior oblique palsy. Further studies are needed to establish whether congenital superior oblique palsy is more frequent in patients exhibiting abnormal values of these orthodontic parameters.

Keratocystic Odontogenic Tumour Mimicking Lateral Periodontal Cyst: A Diagnostic Dilemma.

The Keratocystic Odontogenic Tumor is a developmental cyst derived from the enamel organ or from the dental lamina. It is a benign, multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and has a potential for aggressive, infiltrative behavior and recurrence. Keratocystic Odontogenic Tumors have a predilection for males and occurs mainly in the second and third decade of life, most commonly in the mandible, mostly in the posterior body, the angle and the ascending ramus. It extends in the intramedullary space making it difficult to diagnose at an early stage. It is regarded as a distinctive entity because of its characteristic histology, proliferation kinetics and behavior. Main in 1970 described, collateral variant of Keratocystic Odontogenic Tumor, which presents adjacent to the roots of the teeth usually in the mandibular premolar region and radiologically is indistinguishable from the lateral periodontal cyst and gingival cyst.

Isolated congenital maxillomandibular synechiae.

INTRODUCTION: Congenital maxillomandibular syngnathia, or fusion of the jaws, is a rare condition that has a broad spectrum of presentations. The restricted mouth opening can lead to issues with feeding, swallowing, and respiration resulting in failure to thrive and temporomandibular joint ankylosis. Early recognition and treatment is necessary for proper growth and development. CASE REPORT: We report a 1-day-old male with isolated bilateral soft tissue alveolar fibrous bands. He presented with difficulty feeding secondary to trismus. No bony or muscular involvement in the synechiae was noted and the remainder of the physical exam was unremarkable. The bilateral alveolar synechiae were divided under local anesthesia using surgical scissors. The patient immediately showed improvement in mouth opening and had resolution of his feeding problems. He is now gaining weight and developing appropriately. DISCUSSION: The accompanying review of the literature demonstrates only 11 cases worldwide of isolated maxillomandibular fusion. Depending upon the composition of the synechiae, simple surgical division under local anesthesia can be curative.

Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood.

Agnathia-otocephaly complex (AOC) is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Though rare and often fatal, this is the first report detailing various reconstructive strategies beyond infancy as well as longitudinal follow-up into adulthood. All patients with AOC treated at our institution over a 30 year period were reviewed. Four patients were identified, one with agnathia, one with micrognathia. Two males with nanognathia (defined as a symphyseal remnant without body nor ramus) were also included. The mean follow-up was 17 years. All four underwent perinatal tracheostomy and gastrostomy-tube placement. Commissuroplasties were typically performed before 3 years of age and repeated as necessary to allow for oral hygiene. Mandibular reconstruction was most successful with rib between ages 3 and 8, after which time, free fibula transfer was utilized. Due to some resoprtion or extrusion, all patients underwent repeated bone grafting procedures. Tissue expansion of the neck was used to restore the lower third of the face, but was most successful in the teenage years. At last follow-up of the eldest patients, one was in college while another was pursuing graduate education. AOC need not be a fatal nor untreatable condition; a reasonable quality of life can be achieved. Although the lower-facial contour may be improved, and a stoma created, the lack of musculature make deglutition virtually impossible with current therapies. Just as transplantation has emerged as a modality for facial restoration following severe trauma, so too may it be a future option for congenital deformities.

Ocular manifestations of 22q11.2 microduplication.

PURPOSE: To report a new ocular manifestation of the dup22q11 syndrome and explore involved genes that may offer insight to mechanisms of pathogenesis. DESIGN: Case series. PARTICIPANTS: Two male patients with this syndrome diagnosed with dup22q11.2. METHODS: Medical records were reviewed. Duplication was detected in the oligo-single nucleotide polymorphism chromosomal microarray and duplicated genes within the segment where determined by literature and database review. Potential associations between the ophthalmologic manifestations and their physiopathology were investigated. MAIN OUTCOME MEASURES: Microarray results and identification of candidate genes within the duplicated segment. RESULTS: Our patients demonstrate previously unreported findings of dup22q11.2, including Marcus Gunn jaw winking, Duane's retraction syndrome, and other abnormal eye movements consistent with a congenital cranial dysinnervation disorder (CCDD), retinal vascular tortuosity, and primary infantile glaucoma. The duplicated segment in case 1 includes SNAP29, which could be linked with the development of retinal vascular tortuosity, and MAPK1, which seems to play a role in axonal development through the semaphorin pathway, which may serve as a candidate gene for CCDD. In case 2, the CLDN5 gene is within the duplicated segment. CLDN5 could be involved in the pathophysiology of glaucoma. CONCLUSIONS: Our cases expand the ocular phenotype for duplication of 22q11 and serve to identify potential candidate genes for the development of CCDD, retinal vascular tortuosity, and glaucoma.

Incidence of bilateral Marcus Gunn jaw-wink.

This case report describes the unusual finding of bilateral Marcus Gunn jaw-wink. Only a few bilateral jaw-wink patients have been published as case reports. The authors dispute this notion as portrayed in the literature that a bilateral wink is a rare entity. A thorough review of prior case series on congenital ptosis and jaw-wink demonstrates that bilateral involvement is more common than previously thought. A supplemental video shows the classic action of lateral pterygoid contraction causing ipsilateral eyelid retraction.

Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1.

Agnathia-otocephaly is a rare craniofacial malformation complex that is caused by de novo heterozygous and biallelic mutations in PRRX1 in two unrelated babies, respectively. We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). Her older affected brother died shortly after birth and had agnathia-otocephaly. A c.266_269dupAAAA frameshift mutation in the poly A tract in PRRX1 was identified in the proband while her father only had an inframe duplication (c.267_269dupAAA) of the adenosine trinucleotide residue. Expression of both mutations in COS7 cells showed loss of function of the frame shift mutation only. Results of SNP genotyping coupled with recurrence of this novel mutation in this family are consistent with a paternally derived germline mosaicism rather than autosomal recessive inheritance as predicted by the family history. Severe retrognathia (bilateral Pruzansky III) and agnathia-otocephaly represent a spectrum of craniofacial malformations in this family.

Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology.

A severe mandibular hypoplasia and microstomy with intraoral anomalies including hypoglossia, fused gums, persistence of buccopharyngeal membrane, and laryngeal hypoplasia were noted in a female newborn with the dysgnathia complex (DC). Additionally, our proposita also presented natal teeth as a probably new finding. These clinical manifestations overlapped with those of the fourth report of hypomandibular faciocranial syndrome (HFS) (31), and given that both lack for craniosynostosis (pathognomonic of HFS), we considered that both represent a subtype of DC proposed as DC sine holoprosencephaly nor synotia (DCSHS). Differential characteristics between the DCSHS, the HFS, and the DC with holoprosencephaly sine synotia are reviewed and additionally, we discussed some aspects about the nosology of the DC.

Reliability, completeness and accuracy of cleft subphenotyping as recorded on the CLEFTSiS (Cleft Service in Scotland) electronic patient record.

OBJECTIVES: The CLEFTSiS (Cleft Service in Scotland) electronic patient record (EPR) contains pre-surgical photographs among other records and this study proposes to assess the reliability of diagnosis and accuracy of the type and extent of cleft. DESIGN AND SETTING: Retrospective study, University of Dundee. MATERIALS AND METHODS: From all 1092 cases contained by the CLEFTSiS EPR from inception (April 2000) until September 2011; syndromic, atypical and submucous clefts, still births, abortuses, cases with non-cleft velopharyngeal incompetence, Pierre Robin Sequence, or Simonart's bands were excluded to leave 730 case records for analysis. Observer 1 recorded the LAHSAL subphenotype using the pre-surgical photographs for each case. Images that were absent, only partially demonstrated the intended anatomical site or were unclear were excluded. The data for Observer 1 was compared to the EPR subphenotype using the Kappa statistic. Thirty randomly selected cases were recoded one month later to calculate intra-observer reliability and three further observers subphenotyped these cases to determine inter-examiner reliability, both using Kappa statistics. RESULTS: Intra- and inter-observer reliability of the LAHSAL system were excellent (0.809-0.992). The correspondence between Observer 1 and the original CLEFTSiS subphenotype was almost perfect (0.812-0.862) except the soft palate and the left alveolus, where agreement was substantial (0.638-0.776). Only 68 (9.3%) of the records fully demonstrated all six anatomical areas of the LAHSAL coding system with intra-oral images being the most frequently deficient views. CONCLUSIONS: The subphenotype data held on the CLEFTSiS EPR is accurate but incomplete. Only 9.3% of cases contained all relevant pre-surgical photographs. Subphenotyping using the LAHSAL classification has a high degree of intra- and inter-observer reliability.

Blepharoptosis.

Blepharoptosis of the upper eyelid is a common condition among patients presenting for oculoplastic surgery. Although there are many types of ptosis, the two most frequent clinical cases are simple congenital ptosis in young patients and senile ptosis in adults. Patient examination is important to distinguish these from other more infrequent types of ptosis, such as those neurogenic, myogenic and posttraumatic. These latter cases may require specific therapeutic strategies. Ptosis can usually be corrected surgically. The article discusses guidelines for the choice of intervention. Various different surgical techniques are also presented, together with results and complications.

[Marcus Gunn Syndrome. Study of 3 rare cases]. / Syndrome de Marcus Gunn. Etude de 3 cas rares.

PURPOSE: reporting three rare cases of Marcus Gunn Syndrome and analyzing the clinical features of this entity. METHODS: Case reports of three patients with a Marcus Gunn Syndrome, treated at the Ophthalmology B CHU service Rabat - Morocco. RESULTS: Our patients are two boys aged 1 and 2 years old, and a 31 year old woman with a Marcus Gunn Syndrome. As special features, in the boys' cases this syndrome is bilateral, as for the other case it is associated with congenital fibrosis clinically predominant of the Ipsilateral inferior rectus muscle in an adult. Surgical treatment was not offered for children because of their young age. The adult patient has benefited from a recession of the inferior rectus muscle and a pleating in the superior rectus muscle. The forced duction test objectified a fibrosis of the inferior rectus muscle. Surgical correction of Ptosis and Synkinesis has not been indicated in this patient, given the residual oculomotor disorder and the risk of exposure keratitis. CONCLUSION: Marcus Gunn Syndrome is exceptional in adults. This can be explained by the tendency of the lid retraction to fade with age. Bilateral involvement in Marcus Gunn Syndrome is rare. Its association with congenital fibrosis of extraocular muscles has allowed a better etiopathogenic approach highlighting a supra nuclear origin of this Syndrome.

Is the coexistence of intraoral synechia and cleft palate anomaly a sequence?

Intraoral synechia is a rarely seen intraoral anomaly. As a result of intraoral synechiae, fusion of the palatal shelves may be prevented because of the abnormal interposition of the tongue. Hence, cleft palate anomaly accompanies intraoral synechiae in many patients. The main problem for these patients is the inadequate oral opening for feeding. Flexible nasopharyngeal examination before intubation may help the anesthetist for simple excision of synechiae in the newborn period. In this article, a newborn who had a congenital synechia between the mandible and the maxilla has been presented, and the etiopathogenesis of intraoral synechia and the importance of flexible nasal endoscopy before endotracheal intubation are discussed.

Magnetic resonance imaging findings of true bifid mandibular condyle with duplicated mandibular fossa.

Bifid mandibular condyle (BMC) is a rare asymptomatic morphological alteration with no predilection for age group or gender. Its morphology varies from a shallow groove to two condylar heads with separate necks, oriented mediolaterally or anteroposteriorly. This report describes an unusual case of anteroposterior bifid condyle in a 39-year-old female patient with the main complaint of mouth-opening limitation and a deviation of the mandible to the left side. Magnetic resonance imaging (MRI) findings revealed a bifid condyle on the left side and duplicated mandibular fossa, with the articular disc over the anterior head. The MRI images in the open-mouth position revealed minimal movement of the condyle. Despite the increased number of mediolateral bifid mandibular condyle cases described in the literature, none of previously reported cases of BMC included an anteroposterior bifid condyle case with two distinct mandibular fossa.