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A case of Tessier no. 30 facial cleft with only lower lip deformity is reported in this paper. Median cleft of the lower face was reported before. However, rare case reports were seen without bone involvement in literature. Furthermore, only one similar case report was found in Turkey. We aimed to remind the pathology and review the literature in this report. Ozet: Bu yazida sadece alt dudak deformitesi ile seyreden Tessier no. 30 yuz yarigi sunulmustur. Alt yuzun medyan yariklari daha once raporlanmistir. Fakat kemik tutulumu olmayan olgular literaturde nadir izlenmistir. Dahasi, Turkiye’ de sadece 1 benzer olgu sunumu bulunmustur. Bu yazida patolojiyi hatirlamayi ve literaturu gozden gecirmeyi amacladik.

We report the case of mandibulofacial dysostosis in a 9-year-old Indian boy presenting with unilateral double limbal dermoid in superotemporal and superonasal quadrants, high arched palate, and paramedian cleft in the right side of the nose with abnormal dentition. A multidisciplinary approach to treatment was advised. The dermoid cysts were excised surgically with a reconstruction of the ocular surface using multilayered amniotic membrane transplantation.

Background Repair of facial clefts implies wide tissue mobilization with multi-stage surgical treatment. Authors propose pre-surgical orthopedic correction for naso-oro-ocular clefts and a novel surgical option for Tessier No. 3 cleft. Methods Two male infants, a Tessier No. 3 cleft (age 7 months) and another Tessier No. 4 (age 3months), were treated with a modified orthopedic Latham device with additional septo-premaxillary molding and observed to age four years. Tessier No. 3 orthopedic measurements were obtained by image corrected cephalometric analysis. Subsequent repair included tissue expansion on Tessier No. 4 and naso-frontal Rieger flap combined with myocutaneous upper lid flap on Tessier No. 3. Results Orthopedic movements ranged from 18.5 mm in bi-planar to 33 mm in oblique analyses. Tissue margins became aligned with platform normalization. Tissue expansion on Tessier No. 4 improved distances from ala base-lower lid and subalar base-lip. The naso-frontal flap combined with myocutaneous upper lid flap on Tessier No. 3 had similar achievement, but also sufficiently lengthened ala base-canthal distance. Conclusions Repairs were facilitated by pre-surgical orthopedic correction. The naso-frontal flap combined with an upper lid myocutaneous flap seems viable as a single-stage option to lengthen ala base-canthal distance to advance repair achievement in unilateral Tessier No. 3.

Introduction Lateral or oblique facial clefts associated with accessory alveolar processes are very rare congenital anomalies; only a few clinical cases have been reported in published literature. Case report and literature review Here, we present a retrospective review of 22 cases of lateral facial clefts and six cases of oblique facial clefts associated with accessory alveolar processes, and a case report of 23-year-old woman from China with bilateral transverse facial clefts and accessory alveolar processes. We present a summary of their clinical features, along with bone and teeth abnormalities. Discussion We identified 24 cases from published English literature and four cases from Chinese literature. Accessory alveolar processes in lateral or oblique facial clefts occurred most frequently in the molar region, with pterygoid processes and maxillary tuberosities as the most common site. The maxilla displayed a full complement of deciduous and permanent teeth appropriate to his age. Supernumerary teeth resembled deciduous and permanent molars developed in accessory alveolar processes. There was no cleft in the posterior maxillary alveolus. Some were cases of orbital and mandibular deformation. Conclusion The maxillary prominence was the main area of the lesion. Accessory alveolar processes may be an isolated pathology in lateral or oblique facial cleft.

To discuss the embryological basis, sequela and management of intraoral synechia, and to report on the incidence of this condition at a facial cleft deformity clinic (FCDC), with specific attention to two rare cases of mucosal bands involving the floor of the mouth and palate. Review of the literature and a retrospective analysis of FCDC and case report of two cases. During the period of 30 years (1983-2013), the FCDC - University of Pretoria has managed in excess of 4000 cases. A review of the clinic statistics revealed only six cases in which intraoral synechiae occurred. The rarity of this condition at the FCDC is in keeping with the rare incidence in the international literature. Four syndromic cases were identified. Three cases were cleft palate lateral synechia syndrome, and one was an orofacial digital syndrome. Two nonsyndromic cases were identified, and both cases involved the floor of the mouth and palate. The attending physicians and surgeons should be aware of the most appropriate timing for management of this condition, in order to avoid unwanted sequelae. Supportive care should be provided, and emergency airway protocol should be available for all cases. A differential diagnosis should be considered which includes syndromic conditions.

Background: Median cleft of mandible and lower lip is a rare anomaly [1]. Only a few cases have been reported in literature with different variations till now. Herein we report a patient with Tessier 30 cleft associated with complete duplication of tongue. Aim: We herein report this rare variant as it posed special challenges for its management by virtue of its uniqueness, late presentation and limited affordability of patient for standard treatment. Case Report: A 12 years old female reported to us with a chief complaint of a midline gap in the lower lip and mandible since birth. On examination under anaesthesia, we found that tongue was not bifid. There was complete duplication of the tongue. The case was planned for staged repair of the defect. In the same sitting, a repair of the soft tissues in the midline was performed. Conclusion: There are no specific guidelines in literature for management of such cases. This makes all these cases worth for reporting in order to guide treating surgeons.

A simple subcutaneous lesion such as an epidermoid cyst can present as an aesthetic challenge when located in the nasal tip. Usually the nasal dermoid presents as swelling over the dorsum of nose extending from the nasal tip to the nasal bridge with or without intracranial extensions. In some cases, the overlying skin gets rupture and underlying abnormal structures developed from pluripotent cells of dermoid become visible with variable discharges such as cerebrospinal fluid or sequestrum. Origin of nasal dermoid sinus cyst (NDSC) during embryological development requires two necessary and sufficient conditions. One is competence of the ectodermal and meso-ectodermal cells to form dermoid tissue with epithelial-mesenchymal interactions and second, presence of a topographical site of ectodermal inclusion, which fits well with the various clinical presentations of NDSCs. The case presented here has naso-ethmoidal dermoid cyst with ectopic teeth at the tip of the nose. The patient had a cranial defect with bulging of tissue in naso-ethmoidal region that was in line of 1-13 facial cleft of Tessier. Computerized tomography revealed a bony gap in the region of right fronto-ethmoidal region and brain cyst with craniosynostosis in left frontoparietal suture. Transcranial approach was used to manage the case and all the teeth at the tip of the nose were removed.

Objective: The purpose of this study was to analyze the stress distribution and displacement patterns within the craniofacial structures following application of transverse and anteriorly directed forces by means of rapid maxillary expansion and reverse pull headgear, respectively, using a finite element method in a patient with bilateral cleft. Materials and Method: A finite element model was used to determine stress distribution and displacement of various craniofacial structures following application of transverse and anteriorly directed forces. Results: Maximum forward displacement was 8.07 mm at the node corresponding to the incisal edge of the upper central incisor followed by 7.95 mm at the prosthion. Maximum positive displacement lateral displacement was 3.24 mm at the node representing the premolars. The lateral and medial pterygoid plates showed maximum superior movement of about 0.95 mm and 0.79 mm, respectively. In the dentoalveolar region, the stresses were highest in the apical regi...

Tessier cleft types 3 and 4 are both rare craniofacial anomalies. Here we present the first case of a girl born with a combined anomaly of Tessier clefts 3 and 4 with severe bilateral cleft lip, a displaced premaxilla, and three-dimensional underdevelopment of the hard and soft tissues of the maxilla and zygoma. This type of rare facial cleft poses a major operative challenge. Over a period of years, presurgical alveolar molding with an active appliance was followed by seven operations. A satisfactory esthetic outcome was obtained. A multidisciplinary approach to treatment with a plastic surgeon in charge of the operations and an orthodontist in charge of the cleft deformity is essential.

BACKGROUND Mucoceles occur as a result of accumulation and retention of mucous secretions in a paranasal sinus and are uncommon in the pediatric age group. Persistent or intermittent closure of its ostium through a variety of causes, including previous surgery, is implicated in etiology. The authors report 2 cases of frontoethmoidal mucocele that followed box osteotomies for the treatment of orbital dystopia, with medical literature review and discussion of possible causal factors and events. METHODS Case histories and radiological imaging are presented on 2 patients presenting with frontoethmoidal mucoceles following craniofacial surgery. Both had transcranial craniofacial techniques where all orbital walls and globe are moved en bloc as a "box." RESULTS Patient 1, a 12-year-old male patient with Crouzon syndrome, developed mucoceles within 18 months of monobloc distraction surgery and box osteotomies. This was successfully marsupialized with a combined external and endoscopic surgical approach. The second patient, a 15-year-old boy with previously corrected right-sided facial cleft, developed mucocele 9 years following box osteotomies; this was successfully managed by endoscopic drainage. Of 3 other patients having similar box osteotomies in our unit, no other mucoceles were noted as complications. CONCLUSIONS Mucoceles are a rare complication of craniofacial surgery, and literature review confirms a paucity of reports. Only 1 case has previously been alluded to of mucocele complicating box osteotomy for orbital dystopia. Our 2 cases illustrate and highlight a successful management approach in a multidisciplinary craniofacial unit.

Transverse clefts of the oral cavity have significant impacts on both appearance and function. Many methods of repair have been described, but there is no consensus on optimal approach. In addition, dissatisfaction with scars, distortion of appearance, and recurrent deformity have led to complex surgical designs that are difficult to understand and reproduce. We describe a simple approach to repair that is based upon anatomic approximation of lip components and accurate repair of the muscle. Twenty patients underwent repair by the senior author, who devised the approach, and the corresponding author, who adopted it. Eight (62%) patients had right-sided clefts, three (23%) patients had left-sided clefts, and two (15%) patients had bilateral clefts. One patient had an associated branchial cleft remnant, two patients had multiple branchial cleft remnants and tragus deformities, one patient had craniofacial microsomia with microtia, and one patient had a contralateral Tessier 1 cleft. Mean age of the patients at repair was 23 months. All patients achieved normal oral competence, have favorable scars and commissure appearance, and have had no recurrent deformity. None of the patients have required revision. The described surgical approach is reproducible, easy to understand, and can produce favorable outcomes.

Rare facial cleft has a broad spectrum of clinical presentation as soft tissue and bony structures can be malformed, clefting or absent. The face is a complete three-dimensional structure, composed by regions with different topography, skin thickness, texture, and color. In patients with rare facial cleft, hair follicles may accompany the cleft, especially those above the orbit or that are completely absent causing alopecia, absence of eyebrow and eyelash.

Preauricular sinus is a congenital malformation that is very commonly encountered among the general population and it has especially high prevalence among Asians when compared to other ethnic groups. It can often go unnoticed or easily overlooked by the patient or even by doctors because most of them are asymptomatic and is most of the time only a tiny pit that can be trivial in terms of aesthetics. We report a very rare and unique case that has no precedence what so ever; hence no reported case in the literature: an ectopic preauricular sinus in a facial cleft and microsomia patient.

Aim To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. Materials and methods Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients. After 6 to 12 months of follow-up, the authors analyzed the differences between preoperative planning and postoperative results through computed tomography data. Results Patients were satisfied with surgery, and computed tomography data showed that there was little difference between preoperative planning and postoperative results with the navigation-assisted surgery. Conclusion Using expanded frontal flap with navigation-assisted surgery for peri-pyriform advancement, the authors could treat congenital nasal deformity and midfacial dysplasia effectively, accurately, and safely in craniofacial cleft patients.

Introduction Invasive cervical resorption (ICR) has an unknown aetiology, yet it exhibits very aggressive behaviour compared with typical external root resorption, posing a high risk of tooth loss. Aim To investigate the number of patients at the Dublin Cleft Prosthodontic Department with an oro-facial cleft who experienced ICR and to identify any possible aetiological factors. Materials and method A retrospective investigation of all oro-facial cleft patients treated at the Dublin Cleft Prosthodontic Department, St James’s Hospital, Dublin. All patients’ clinical and radiological records were reviewed. Patients where tooth loss became inevitable due to Class 4 ICR were analysed. Results From 588 oro-facial cleft patients, 14 (2.38%) patients with ICR were identified. Of these eight (57%) were female and six (43%) were male. Mean age at diagnosis was 28 years (range = 16–49 years). Cleft type: six (42.1%) unilateral cleft lip and palate, eight (57.9%) bilateral cleft lip and palate. Seventeen ICR affected teeth in total, with eleven (65%) maxillary central incisors, two (12%) maxillary lateral incisors, four (23%) maxillary canines, and one (7%) central, lateral and canine affected. Some, (N = 10, 71.4%) presented with ICR resulting in immediate tooth loss. Other patients (N = 4, 28.6%) developed ICR during or following prosthodontic treatment at the Cleft Centre. Tooth loss for this cohort, though not immediate, was inevitable. All had undergone fixed orthodontic appliance treatment and twelve had received dento-alveolar bone grafts. A number (N = 7, 50%) had undergone osteotomy, two (14%) had received night guard vital dental whitening and one had a history of trauma. Conclusions ICR, given its aggressive nature and ill-understood aetiology, poses significant treatment challenges. The most severe form of ICR (Class 4) leads inevitably to tooth loss. The slow–moderate progression of ICR may explain the late presentation found in this study, reinforcing the importance of long-term follow-up of this special dental care group.

Of all the craniofacial abnormalities, facial clefts are the most disfiguring. Facial clefts are classified according to the affected anatomical area as described by Tessier. Through this classification, the location and extent of the cleft can be designated numerically.A 2-month-old male infant was referred to authors' craniofacial unit, from a hospital in a rural province of South Africa, with a problem of a supranasal encephalocoele. Bilateral raised eyebrows were noted as was a right-sided upper lid central third coloboma. Computed tomography and magnetic resonance imaging scans confirmed the presence of a supranasal encephalocoele with a large frontal bone defect and splayed nasal bones. Bilateral enlarged orbits were noted with tented orbital roofs that we classified as Tessier number 10 facial clefts. The child was booked for an encephalocoele excision and calvarial reconstruction at 4 months of age.As a result of the encephalocoele, the supraorbital bar with its adjacent nasal bones was cleaved in 2, resulting in a significant frontal bone defect. Osteotomies were performed to remove the supraorbital bar and nasal bones from the calvarium. The supraorbital bar segment was remodeled and plated with absorbable poly-L-lactic acid plates. Osteotomies of the nasal bones allowed them to be united centrally, also with absorbable plates. This entire construct was transferred and secured to the calvarium, but in a more caudal position thereby obliterating the frontal bone and Tessier number 10 facial cleft defects with a naturally contoured construct.

Introduction Craniofacial clefts belong to the most disfiguring and rare congenital malformations of the face and among these, orbito-facial clefts constitute approximately 0.22 % of the cases with Tessier cleft number 5 being the least common. Our aim was to define the phenotypic spectrum for this subgroup to improve clinical management. Methods Our study group consisted of four patients which were treated at two different cleft centers. Retrospective chart review and anatomical analysis were conducted for each patient based on clinical evaluation and imaging studies. Morphological anomalies including soft tissue, bone and oral components were recorded. Results Based on our analysis and literature review, we could define two subtypes of Tessier facial cleft number 5. (1) Medial clefts are the more severe subtype, creating a significant soft tissue and bone defect that runs vertically, through the eyelid, infraorbital rim, maxillary sinus and cheek. They have the poorer esthetic and functional prognosis, due to orbital dystopia and absence of lower eyelid. (2) Lateral clefts are a less severe subtype characterized by the presence of a vertical furrow of the cheek running laterally to the maxillary sinus. Conclusions We identified two subtypes of facial cleft number 5 which require an individualized surgical management

Frontonasal dysplasia is a complex rare malformation, characterised by abnormalities involving the central portion of the face, especially the eyes, nose and forehead. It can manifest independently or associated with other abnormalities as part of some syndromes. The purpose of this case report was to describe a 5-year-old patient, diagnosed with frontonasal dysplasia. Among the abnormalities characterised with this disorder were ocular hypertelorism, broad nose tip with median notch, median facial cleft, bifid anterior skull, low set hairline, Poland’s syndactyly and ankyloglossia. Consisted of behavioural management, oral hygiene instruction, prophylaxis, topical fluoride application, extraction of primary teeth, composite resin restorations and sealants in pits and fissures. Preformed metal crowns were also applied to the right and left primary maxillary second molars. Currently, the patient is 11 years-old in the permanent dentition and therefore was referred for corrective orthodontic and periodontal treatments due to the persistence of gingival retraction of the permanent mandibular right central incisor. The treatment in this case was directed to the promotion of oral health and orthodontic corrections, which are of fundamental importance due to medical, physical and social limitations of children affected by this syndrome, hindering healing and rehabilitative treatment. Paediatric dentists should be included in multidisciplinary teams providing care to patients with special needs, improving their quality of life.

Cleft lip (CL) and palate are the most common congenital craniofacial anomalies. The overall incidence of cleft lip and palate (CLP) is 1/700, with cleft lip and palate as the most common diagnosis, followed by isolated cleft palate (CP), and then isolated cleft lip. Unilateral clefts have significantly higher incidence compared to bilateral clefts. The majority of bilateral cleft lips and unilateral cleft lips are associated with a cleft palate. Males are predominant in the cleft lip and palate population. Both environmental and genetic factors have their influence in the genesis of cleft lip and palate. Cleft palate differs etiologically and embryologically from cleft lip and palate. Prenatal diagnosis of CL on a prenatal ultrasound is possible in more than 70% of cases. Clefts are typically divided into four groups: cleft of primary palate (unilateral, bilateral, total, or subtotal), cleft of secondary palate (total, subtotal, submucosal), cleft of primary and secondary palate (unilateral, bilateral, total, or subtotal), and rare facial cleft. Cleft lip and palate can be associated with a large number of syndromes. Goals of treatment include feeding counseling, surgical treatment, hearing evaluation, speech evaluation, orthodontic treatment, and additional surgical treatment. Individuals born with cleft lip and or palate require coordinated care from multidisciplinary team of different specialties.

Fetal facial clefts are among the most common congenital anomalies. They develop as a result of both genetic and environmental influences and have a prevalence of about 1:500 to 1:1000 live births [1–4]. The common forms of cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP) involve disruption of tissue planes above the lip going through the nares and/or the palate.

A 39-year-old woman, gravida 3, para 1, was referred to level II ultrasound at 16w5d of gestation with suspected midline facial anomaly, as detected at routine obstetrics scan. The parents were non-consanguineous, with uneventful medical and family history. First-trimester screening for Down syndrome showed a low risk for common trisomies. A normal fetal biometry and anatomy were observed. The ultrasound examination showed a fetus with BPD (biparietal diameter) and a BPD/FOD (fronto-occipito diameter)

INTRODUCTION: Isolated cleft lip is the mildest form of the cleft lip and palate spectrum; however those patients are often treated with the same surgical techniques that are used for the more severe cases (advancement-rotation flaps, quadrangular flaps). Meara's cheiloplasty technique may be a less aggressive option for lip repair in isolated cleft lip or whenever the gap between labial segments is not wide. MATERIAL AND METHODS: All children that had their cleft lip repaired following Meara's cheiloplasty between May 2014 and December 2015 were retrospectively reviewed. Duration of the surgical procedure, time to hospital discharge and complications were noted. Aesthetic results were evaluated in terms of lip height and symmetry, nose shape and symmetry, and scar appearance. RESULTS: Thirteen patients underwent Meara's cheiloplasty during this period. The average age was 6.11 months (5 to 12 months). A primary rhinoplasty was done at the same time in case of nasal asymmetry. Duration of the lip repair averaged 85 minutes. Oral feeding was started 4 hours after the procedure; bottle-feeding was withheld for 2 weeks postoperatively, as our protocol recommends after other lip repair techniques. In all 13 cases the result was a symmetrical, adequately high upper lip and a well-balanced nose, except for one case of lip scar retraction that was solved with triamcinolone infiltration. There were no other intra or postoperative complications. CONCLUSIONS: Meara's cheiloplasty corrects small or moderate gap cleft lip (usually cleft lip without cleft alveolus). Benefits over other teccniques are a shorter procedure and less geometric, undulate flaps that produce a harmonic lip.

Cleft lip ± cleft palate (CL/P) and cleft palate (CP) are the most common congenital craniofacial abnormalities with an estimated prevalence of 1:690 in the USA [1]. Both conditions can be divided into syndromic (associated with other abnormalities) and non-syndromic (isolated) with about 70 % of the cases with CL/P and 50 % of the cases with CP being non-syndromic [2]. In the USA, the prevalence of isolated cleft lip (CL) is 1:3226 live births, of isolated cleft lip and palate (CL + CP) 1:1786, and of isolated CP 1:1695 live births [1]. While the prevalence of CP is the same in different countries and ethnic backgrounds, the incidence of CL/P differs according to the race, ethnic background environmental exposures, socioeconomic status, and geographical origin. Thus, in the USA the prevalence of isolated CL/P is lowest among blacks and highest among American Indians. CL/P is also very high among the First Nations population in British Columbia, Canada [1/300] [3]. Furthermore, while CP is more common in females, CL/P is more common in males.

Cleft lip and palate are the most common causes of facial malformation, with an approximate incidence of 1 on each 1250 births. The high incidence of this disease is due to the sensibility of the facial tissues to teratogenic events.

Facial clefts are found in 272 different syndromes, the frequency of cleft lips and palate is 0.5/1000, or 1/500, 41 % of which are associate with other organ anomalies, and only 6/10 being isolated.

Orofacial clefts are among the most common congenital malformations, with a prevalence of one in 700 to one in 1000 births.1,2 Orofacial clefts range from the common cleft lip with or without cleft palate and cleft palate only, to rare and complex oblique facial clefts, also known as Tessier clefts.3–6 Although surgical management of cleft lip with or without cleft palate and cleft palate only are routine, and good functional and cosmetic results can be achieved, repair of oblique facial clefts is generally difficult, with more modest surgical results.7,8 Affected children require multiple staged surgical procedures in early childhood and need lifelong multidisciplinary treatment with significant financial burden to their families and the health care system.9 Better understanding of the genetic basis of palate and cleft formation would aid genetic diagnosis of orofacial clefts and lead to potential advances in the treatment of these common structural malformations.10–12 Many genetic loci associated with cleft lip with or without cleft palate and cleft palate only have been described, such as MSX1, IRF6, SUMO1, an TGFB.5,13–19 In contrast to the common cleft lip with or without cleft palate, little is known about the genetic basis of oblique facial clefts. For lack of better understanding, clinicians have suggested that oblique facial clefts may be caused by a combination of directly tethered tissue disrupting facial prominence migration (such as amniotic bands) or increased local pressure that causes ischemia.20 It was not until this work that we begin to show that oblique facial clefts, like the more common cleft lip with or without cleft palate and cleft palate only, has a genetic basis, through the discovery of mutations in SPECC1L to be causal for oblique facial clefts.21 SPECC1L encodes a novel coiled-coil domain containing protein and functionally interacts with both microtubules and the actin cytoskeleton, especially in mitotic spindles.21 In a wound-repair assay, SPECC1L knockdown led to defective cell adhesion and migration and inability of cells to reorganize their actin cytoskeleton in response to stimuli such as Ca2+ and Wnt5a. Morpholino-based knockdown of SPECC1L homologs in zebra-fish led to a “faceless” phenotype. This work did not describe the craniofacial structures in detail, which precluded evaluation of the mandible and palate. Disruption in Drosophila led to cell migration and adhesion defects resulting in a wide range of wing phenotypes.21 The wing phenotypes observed in SPECC1L knockdown experiments in Drosophila had a striking resemblance to mutants in the integrin signaling pathway,22 suggesting that SPECC1L may be involved in integrin-mediated cell motility and adhesion. However, the means by which SPECC1L participates in integrin and WNT pathways during craniofacial development remains undefined. The function of SPECC1L in craniofacial morphogenesis is also unknown. Zebrafish (Danio rerio) is a powerful genetic tool for study of the developmental and genetic basis of orofacial clefts. Many features of zebra-fish biology, including small size, rapid and ex vivo embryonic development, and high breeding rates, make this model system very useful. The embryos are optically transparent and genetically tractable, and can be used in large-scale genetic and chemical screens. We and others described the conservation of palatogenic gene expression and function across vertebrates.23–26 It was also shown that zebrafish cranial neural crest cells reside in analogous regions of the developing face compared with amniote species, and that the zebrafish palate is analogous to the amniote primary palate (Fig. 1). In addition to structural similarities between zebrafish and mammalian craniofacial development, the gene regulatory network is highly conserved with genes such as WNT signaling, sonic hedgehog, fibroblast growth factor 8, transcription factor AP-2a, and PDGFRA all playing key roles.27–31 Furthermore, we demonstrated that the pathogenesis of orofacial cleft is also conserved between amniotes and zebrafish, where disruption of wnt9a and irf6, which are important mutations associated with human cleft lip with or without cleft palate, also resulted in zebrafish cleft palate phenotypes.23 Recent innovations in gene editing and knockout approaches using clustered regularly interspaced short palindromic repeats and transcription activator-like effector nucleases have further advanced zebrafish as a first-line model system of choice to analyze genes of unknown function uncovered from human genetics studies.32–35 Fig. 1 Human embryo at 10 weeks (left) and zebrafish embryo at 4 days post fertilization (dpf) (right), at analogous developmental time points. Frontal (above) and palatal views (center and below) of the frontonasal prominence (FNP; red) and maxillary prominences ... This work aimed to elucidate the function of SPECC1L through the study of its homolog, specc1lb, in the zebrafish model. In zebrafish, we can readily determine the embryonic gene expression of specc1lb, assess the functional requirement of specc1lb during craniofacial morphogenesis, and study the cellular mechanisms where specc1lb acts. This study forms the basis for future functional analysis of SPECC1L, such as gene targeting in murine models or to guide future biochemical approaches.

This article describes a rare case of congenital abnormality: a median facial cleft in combination with congenital complete bilateral cleft lip and palate. An integrated approach to the treatment of children with severe pathology of the maxillofacial area provides a good aesthetic and functional result. Surgical treatment in combination with orthodontic treatment, massage, myogymnastics, dynamic observation of the child contributes to the normal development of the maxillofacial area in a child with a rare congenital facial cleft.

The purpose of this clinical report was to present a case of a rare Tessier 2/12 craniofacial cleft, which was treated by using mandibular distractors in a reverse manner for the reapproximation of the craniofacial skeleton allowing for closure of the soft tissue component and palate of this cleft. The changes in the bony portions of the cleft were accomplished without osteotomies taking advantage of the mobility of the facial bones involving both normal bony sutures and the cleft bone. The bone movement allowed for easier adhesion of the midline lower facial soft tissue during the first year of life. The outcomes were both functionally and aesthetically satisfactory. Although the ability of distractor devices to regenerate bone is well documented, they can also accomplish the same effect in a reverse manner. This new use of distraction devices in a reverse manner to contract the craniofacial skeleton without osteotomies to the author's knowledge has not been previously reported and adds a valuable tool to closing large facial clefts. However, considering the severity and complexity of the deformities, long-term follow-up will be necessary to assess the benefits of the surgical interventions and the patient's quality of life.

Macrostomia is a rare facial cleft, with an incompletely described pathogenesis. This series highlights cases of isolated macrostomia presenting with several distinct phenotypes. We examine phenotypic differences in macrostomia patients, to further elucidate the etiopathogenesis.We performed a retrospective review of macrostomia patients evaluated during a 10-year period. Patient demographics and clinical features are reported.We identified 25 macrostomia patients (13M/12F). Right-sided macrostomia occurred in 15, left-sided macrostomia occurred in 6, and bilateral macrostomia occurred in 4 patients. Of the bilateral cases, 100% existed in isolation of craniofacial microsomia (CFM) or other craniofacial abnormalities. Twelve patients presented with macrostomia in isolation of CFM; in this subgroup, the male-to-female ratio was 1:1. Bilateral macrostomia was present in 33% of patients. Unilateral macrostomia occurred more often on the right (5:2). Phenotypes included simple unilateral or bilateral macrostomia (67%), macrostomia associated with severe diastasis of the cheek musculature (8%), macrostomia associated with lateral facial clefts (17%), and diastasis of cheek musculature without significant macrostomia (8%).Macrostomia seen in isolation of CFM presents in phenotypically distinct forms. It is unlikely that a single mechanism is responsible for this range of phenotypes. We believe that both intrauterine trauma and failure of fusion of the mandibular and maxillary processes secondary to an aberration in FGF8 function are responsible. Additionally, diastasis of facial musculature may result from delayed fusion and subsequent decreased mesodermal penetration of the mandibular and maxillary processes.

Median cleft of the lower lip & mandible (Tessier no. 30 facial cleft) is an uncommon condition. This cleft varies in severity, in mildest form it may present as submucosal notching of lower lip & in most severe form it may involve lower lip, tongue, alveolus, mandible, floor of the mouth and neck structures. In our case report, we describe a child patient having median cleft of the lower lip with ankyloglossia, and its treatment. Keywords: Median, Cleft, Lower lip, Mandible, Ankyloglossia, Tessier cleft 30

Cleft lip and palate (CLP) are commonly occurring birth defects which occur due to failure of fusion of various developmental processes of the face, leading to a visible defect in the lip and palate. In severe cases, this defect may extend over the face, thus causing facial clefts. The present case of a 7-year-old girl is unique in the sense that she has right and left side facial clefts of different severity with bilateral accessory maxilla, extra set of dentition, unilateral CLP of the right side, and a double soft palate. Other less associated findings in the case are severe maxillary protrusion, complex open bite, downward and backward rotation of mandible, and incompetent lips with apparently no limb deformities. With some relevant data in hand, we present this case for various suggestions and best possible treatment plan.

Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations and their parents, and to improve diagnosis of new patients, more information about the phenotypic features is needed. This study included 23 patients (2 male, 21 female) with confirmed EFNB1 mutations. All patients underwent a thorough physical examination and photographs were taken. If available, radiological images were also consulted. Hypertelorism, longitudinal ridging and/or splitting of nails, a (mild) webbed neck and a clinodactyly of one or more toes were the only consistent features observed in all patients. Frequently observed phenotypic features were bifid tip of the nose (91%), columellar indentation (91%) and low implantation of breasts (90%). In comparison with anthropometric data of facial proportions, patients with CFNS had a significantly different face in multiple respects. An overview of all phenotypic features is shown. Patients with EFNB1 mutations have a clear phenotype. This study will facilitate genetic counseling of parents and patients, and contribute to the diagnostic and screening process of patients with suspected CFNS. © 2014 Macmillan Publishers Limited All rights reserved.

We report the postnatal diagnosis of Van der Woude syndrome (VWS) in a foetus found to have an isolated right cleft lip and palate by ultrasound examination. After prenatal genetic counselling, the parents declined further evaluation by amniocentesis. At delivery, the infant was also found to have labial pits in the lower lip in addition to the cleft lip and palate identified by ultrasound consistent with VWS. Although VWS is rare, its autosomal dominant inheritance and variable penetrance should prompt additional modalities to more thoroughly evaluate the extent of other organ system and more extensive craniofacial anomalies.

Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru.

Duplication deformity of the mandible is exceedingly rare. Its occurrence with congenital facial cleft and parotid gland aplasia has been rarely reported as 1 entity. We report such a case with detailed computed tomography (CT) description and provide a review of the literature on mandible duplication.