Lateral Facial Cleft Research Articles

Prenatal Diagnosis of a Case of Asyndromic Tessier Class-7 Bilateral Complete Transverse Facial Cleft: Case Report with Review of Literature

AbstractTransverse or lateral facial clefts are atypical and rare forms of facial clefts identified as Tessier type 7 in the classification system for orofacial clefts. They have an overall incidence of 1 in 60,000 to 300,000 live births. We report a case diagnosed at 22 weeks of gestation. The two-dimensional (2D) ultrasound examination revealed a single live fetus with a persistently open mouth, failure of visualization of lateral commissures, and mild retrognathia. The three-dimensional (3D) surface rendering of the fetal face demonstrated a bilateral horizontal facial cleft that extended from the lateral commissures to the ears. No additional anomalies were identified. Fetal karyotype and whole exome sequencing reports did not reveal any genomic imbalances. The case highlights the importance of 2D oblique and 3D imaging of the fetal face when subtle findings are detected in routine 2D views. A review of the literature is provided to enhance the understanding of the entity.

Bilateral Maxillary Duplication in Tessier No. 7 Cleft: An Uncommon Congenital Deformity with a Challenging Radiological Diagnosis.

Tessier No. 7 cleft, known as lateral facial cleft, is a rare and understudied entity with an incidence of 1/80,000-1/300,000 live births. Besides perioral tissue abnormalities manifesting as macrostomia, Tessier 7 cleft also involves anomalies of the underlying bony structures. It can appear as part of a syndrome, such as Treacher-Collins syndrome or Goldenhar/Orbito-Auriculo-Vestibular Spectrum, or as an isolated form (unilateral or bilateral) with variable expressions. Bilateral maxillary duplication in Tessier 7 cleft is considered extremely rare, accounting for only two previously presented cases. Given that the cases presented in the literature mainly focus on clinical appearance and surgical treatment, without providing sufficient imaging, we aim to present key radiological features of Tessier 7 cleft in terms of evaluating the involved structures, which is essential for the therapeutic approach and final outcome. A 17-year-old male with incompetent lips and orthodontic abnormalities was referred to our Radiology Department for orthopantomography (OPG) and CT examinations. Hetero-anamnestic data revealed a history of surgical treatment of the commissural cleft conducted 2 months after the birth to enable feeding. Intraoral examination showed a maxillary cleft and supernumerary teeth. Since the given clinical presentation was inconclusive, radiological diagnostics took precedence in elucidating this complex entity.

Prenatal 3D-Ultrasound Diagnosis of “Tessier 3” Lateral Facial Cleft

Prenatal 3D-Ultrasound Diagnosis of “Tessier 3” Lateral Facial Cleft

Cranio-facial clefts in pre-hispanic America.

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.

Lateral or oblique facial clefts associated with accessory maxillae: Review of the literature and report of a case

IntroductionLateral 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 reviewHere, 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. DiscussionWe 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. ConclusionThe maxillary prominence was the main area of the lesion. Accessory alveolar processes may be an isolated pathology in lateral or oblique facial cleft.

Macrostomia

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.

A Rare Clinical Case of Tessier's cleft 7 – A Case Report

Lateral facial cleft is one of the rare entities. The lateral mouth deformity is generally an indicator of Tessier's cleft 7. The repair of the lateral or transverse facial cleft is a surgical challenge on the account of the abnormal positioning and appearance of the cleft. In this report, a case of bilateral Tessier's cleft 7, surgical construction of muscle at the modiolus and appositional cutaneous z-plasty has been done on both side.

Lateral facial cleft associated with accessory mandible having teeth, absent parotid gland and peripheral facial weakness

Transverse facial cleft is a very rare malformation. The Tessier no. 7 cleft is a lateral facial cleft which emanates from oral cavity and extends towards the tragus, involving both soft tissue and skeletal components. Here, we present a case having transverse facial cleft, accessory mandible having teeth, absent parotid gland and ipsilateral peripheral facial nerve weakness. After surgical repair of the cleft in 2-month of age, improvement of the facial nerve function was detected in 3-year of age. Resection of the accessory mandible was planned in 5–6 years of age.

A rare case of accessory maxilla and bilateral Tessier no. 7 clefts, a 10-year follow-up

A Tessier no. 7 cleft is a lateral facial cleft which originates from the oral cavity and extends towards the tragus, involving both soft-tissue and skeletal components. A male patient presenting with both maxillary jaw duplication and bilateral Tessier no. 7 clefts, which has been reported only twice in the literature, is described. Bilateral facial clefts, macrostomia and chondro-cutaneous remnants were noted, which were repaired and resected. With further growth, facial asymmetry and asymmetric facial nerve dysfunction became apparent. Radiographic examination showed an accessory maxillary jaw and a flattened and hypoplastic right coronoid process. A maxillary alveolar cleft was also present between the left second bicuspid and the second permanent molar. This case may represent an under-recognized phenotype with an unusual combination of maxillary jaw duplication, macrostomia, Tessier no. 7 clefts, and chondro-cutaneous remnants. A long-term follow-up of these patients is recommended as they often develop craniofacial deformities later in life.

Prenatal 3D sonographic diagnosis of an isolated lateral facial cleft

We report a case of lateral facial cleft (Tessier 7) diagnosed by sonography at a gestational age of 24 weeks. Two-dimensional sonography revealed a fetus appropriate for gestational age without obvious anomaly, but a three-dimensional sonogram with surface mode rendering showed asymmetrical macrostomia as a result of a left lateral facial cleft. Our case highlights the advantage of using three-dimensional sonography in the prenatal diagnosis of lateral facial clefts.

A classification and construction of congenital lateral facial clefts

The repair of the lateral or transverse facial cleft is a surgical challenge on the account of the abnormal positioning and appearance of the cleft. Over a twenty-seven year period, 22 lateral facial cleft cases were evaluated at a cleft lip (CL) and palate clinic and seven children underwent reconstruction of the lateral CL. Twenty-two of 3187 (0.69%) cases presented with a lateral CL. Five of these 22 cases (23%) had a bilateral, eight (36%) had a right-sided and nine (41%) had a left-sided cleft. The evaluation of these cases resulted in a new classification (namely an extension of the Tessier 7 cleft) classification for the cutaneous and muscle involvement: a superior (T7.1), middle (T7.2), inferior (T7.3) and agenetic (T7.4) lateral CL. The altered surgical construction: an internal mucosal straight-line closure, a curved cutaneous-mucosal red-lip/vermilion-lined flap for the lip commissure, muscle reconstruction at the modiolus and a positional cutaneous z-plasty for the rare lateral cutaneous cleft. The paper introduced a new classification for the lateral CL, as well as an altered surgical reconstructive technique for the most natural functioning of the lateral part of the face.

A susceptibility locus on 1p32–1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation

Macrostomia, (horizontal facial cleft, lateral facial cleft, transversefacialcleft)isararecongenitalmalformation.Onoccasion,itcanbea sign in certain syndromes, such as Goldenhar syndrome orTreacher–Collin syndrome [McCarthy and West, 1977]. Rarely,it occurs as an isolated malformation. The cause has remainedunknown.We studied autosomal dominantly inherited macrosomia in alarge family of Chinese Han origin (Fig. 1A and Table I). Linkageandhaplotypeanalysisidentifiedthemacrostomia-associatedlocusbetween markers D1S193 and D1S2652 on 1p32–1p34; the maxi-mum LOD score at D1S2797 was 4.18 (q¼0.00, Table II). At thislocus, we identified a heterozygous mutation in exon 11(NC_000001.9) of PTCH2 (1423G!A, resulting in Val471Ile inthe 4th transmembrane domain) (NP_003729) in all patients withmacrosomia (Fig. 1B). No mutation was found in family memberswholackedmacrosomiaandwefoundnoPTCH2mutationsin520unrelated controls.Although over-expression of SMO induced GLI-dependentluciferase activity, co-expression of wild-type PTCH2 inhibitedSMO-induced activity significantly, confirming the inhibitoryfunction of PTCH2 in the SHH signaling network (Fig. 1C). Incontrast, co-expression of PTCH2 Val471Ile did not inhibit SMO-inducedluciferaseactivity.Over-expressionofPTCH2significantlyinhibited cell proliferation, but over-expression of PTCH2 Va-l471Ile did not appear to have a major effect on the cell growth rate(Fig. 1D). Western blot analysis confirmed that the expression levelof PTCH2 and PTCH2 Val471Ile is similar (Fig. 1E).The hedgehog signaling network has been reviewed extensivelyelsewhere [Cohen, 2003]. PTCH2 encodes a 1204-amino acidtransmembrane protein with about a 54% overall identity toPTCH1 [Motoyama et al., 1998; Smyth et al., 1999] and a 90%identity to Ptch2 in mice [Carpenter et al., 1998]. In the absence ofSonic Hedgehog (SHH) stimulation, PTCH2, like PTCH1, canmaintain the hedgehog signaling pathway in an inactive state byinhibiting SMO. When SHH binds to PTCH2, the inhibitory effectof PTCH2 on SMO is removed, resulting in activation of SMO,downstreamsignaling,andupregulationoftargetgenes,suchastheGLI family proteins [Hahn et al., 1996; Young et al., 2000; Chenetal., 2002;Vokesand McMahon, 2004;Hutchinetal.,2005]. SHH

Tessier cleft numbers 7 and 30: case report and literature review.

Background: Orofacial clefts are developmental anomalies that involve the lips and face and constitute the commonest variety of craniofacial clefts. While the lateral facial cleft (Tessier cleft no. 7) is relatively common, the median mandibular cleft (Tessier cleft no.30) is a rarity with less than seventy cases reported in the literature. Though the spectrum of severity requires individualized treatment plan, the goal of surgery has always been functional reconstitution of the oral sphincter and restoration of facial balance. Patients: We present our experience in the management of two uncommon cases of rofacial malformation. Results: Surgical outcome was satisfactory in both cases. Conclusion: Sequential approach to management to produce an ideal result i.e. functional reconstitution of the oral sphincter and restoration of facial balance is required. Keywords: orofacial clefts, median mandibular clefts, lateral facial clefts, facial balance, cleft team.Nigerian Journal of Plastic Surgery Vol. 4 (2) 2008: pp. 52-57

Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly

The oculoauriculovertebral anomaly (OAV) or Goldenhar syndrome is a malformation complex that has been described in several chromosomal rearrangements. Among them a deletion of the terminal 5p has recurred in seven previous patients. We wish to report on an additional such patient in order to reinforce the significance of this genomic region in the cause of at least a subgroup of OAV cases. Future studies, particularly in the OAV patients with a lateral facial cleft, might define one genetic background of the disorder. Our patient had a complex translocation chromosome 45,XX, inv(2) (q32q37)mat, dic(5;21) (p15.3;q22.3)dn, resulting in a terminal 5p deletion, a terminal deletion of 21q demonstrated by FISH studies, and a duplication of 21q22.11-q22.12 documented by molecular karyotyping. In addition to OAV she developed myelodysplasia treated with bone marrow transplantation. We discuss her clinical findings with reference to her karyotype findings and review the patients with OAV and a terminal deletion of 5p.

Tessier No. 7 Cleft: A New Subclassification and Management Protocol

Tessier described rare craniofacial clefts anatomically. The no. 7 cleft is a lateral facial cleft consisting of macrostomia, lateral facial muscular diastasis, and bony abnormalities of the maxilla and zygoma. Early computed tomographic imaging provided preliminary insight into the bony abnormality. This article reviews this patient group, defining the clinical and radiological features, to advise optimal protocol management. A retrospective case-note review of 15 patients with Tessier no. 7 clefts managed by the Australian Craniofacial Unit over the past 25 years was performed. Cases of hemifacial microsomia and Treacher-Collins syndrome were excluded. Clinical features of the patient group were analyzed with photography (all clefts) and imaging (seven clefts). Surgical management and outcome are reviewed. Fifteen patients and 18 clefts (three bilateral) were treated during the time period of the study. All patients had macrostomia (mean length, 2 cm) and 94 percent had soft-tissue ridging from muscular diastasis directed toward the tragus (44 percent), temporal area (28 percent), or lateral canthus (22 percent). Bony abnormalities included simple clefting of the maxillary molar region in 55 percent, maxillary duplication in 39 percent, and intermaxillary fusion in 6 percent. Surgical intervention included macrostomia repair at the first available opportunity, resection of maxillary duplication (median age, 4 years), and alveolar bone grafting to the cleft (median age, 10 years). Optimal follow-up of these patients is impaired because of long distances required for review. Patients treated with this management protocol have had good functional and aesthetic results to date. This article describes the Tessier no. 7 cleft in great detail and suggests a new subclassification of the bony abnormality. An adjusted management protocol is proposed to address the bony abnormalities of cleft and duplication, with favorable outcomes for treated patients with this condition.

Surgical Management of Lateral Facial Clefts — a Modified W-plasty Technique

Objective: Lateral facial clefts are rare congenital anomalies of the head and neck and form a distinct anatomic entity as per the Tessier classification of soft- and hard-tissue clefts. This report discusses the pathogenesis and management of lateral facial clefts (macrostomia) and clarifies the use of a simple, modified W-plasty done with a fish-mouth modification near the commissure to ensure a natural closure of the commissure. It also includes an overview of the incidence, embryology, and clinical features of lateral facial clefts.Patients and Methods: Four patients who reported with lateral facial clefts to the hospital were enrolled in the study. The patients presented with unilateral lateral facial clefts (n = 2), bilateral facial clefts (n = 1), or a combination of unilateral lateral facial cleft and an underlying Tessier bony cleft (n = 1). A simple, modified W-plasty with a fish-mouth modification near the commissure was chosen for the correction of the clefts in these patients.Result: The 4 cases of lateral facial clefts were managed successfully. Long-term follow-up showed satisfactory healing response, minimally discernible scars, good aesthetics, and stable results in all 4 patients.Conclusion: The modified W-plasty technique eliminates the need for complex flaps for the reconstruction of the commissure and uses the incision line to form the natural commissural crease. This eliminates the force of scar contracture over linear scars and helps preserve the reconstructed symmetry of the oral commissure. All patients showed good competence of the oral aperture and acceptable scars with minimal scar contractures over long-term follow-up.

Lateral facial cleft, accessory maxilla and hemifacial microsomia: An uncommon triad

This is a report of a unique case of lateral facial cleft (Tessier 7 soft tissue) combined with a posterior maxillary cleft (Tessier 6 skeletal) and mandibular hypoplasia presented in an eight-year-old boy. The varied clinical findings, along with the rarity of the occurrence, mandate documentation of this entity and a thorough review of literature.

Isolated Bilateral Macrostomia: Case Series and Review of Literature

Macrostomia is a rare congenital anomaly of the face, especially the isolated type. This report aims to document our experience inmanaging this rare pathology. All consecutive cases of children managed for isolated bilateral macrostomia at the Jos UniversityTeachingHospitalwere retrospectively reviewed. Five patients, aged between 10 weeks and 30 months were managed. They were all females and presentedwith bilateral symmetrical transverse lateral facial cleft (macrostomia). There were no associated anomalies, and no family history of facial clefts or any other congenital anomaly. All the patients had repair of the defect under a general anaesthesiawith satisfactory outcome. Macrostomia can present as an isolated entity. The final outcome of the repair depends on the technique of repair, function of the orbicularis oris muscle and the quality of scar. Keywords : Macrostomia; Facial cleft;Neocommissure. African Journal of Paediatric Surgery Vol. 4 (1) 2007: pp. 41-45

Apoptosis as a creative agent of embryonic development of bucca, mentum and nasolacrimal duct. An in vivo study in rats

For embryonal facial development several fusion processes between different facial prominences are necessary. If fusion fails to appear, various facial clefts may occur, known as median (e.g. lower median cleft lip), oblique (e.g. open nasolacrimal duct) or lateral facial clefts (macrostomia, lateral cleft). The development of 3 different facial regions (bucca, mentum, and nasolacrimal duct) was examined in rats using serial histological sections on day 13.5 after conception. Common procedures were used (staining for active caspase-3 and for Ki-67) for histological assessment about the role of apoptotic and proliferative processes in the fusion zones of buccal, mental and nasolacrimal areas. Multiple apoptotic events were detected in epithelial cells of the respective regions, the proliferative centers were located in the mesenchymal surroundings of fusion zones. A substantial precondition for fusion of facial prominences are proliferative and apoptotic processes in epithelial and mesenchymal cells. Apoptosis contributes to the development of bucca, mentum and the nasolacrimal duct. Absence of apoptoses may be responsible for facial clefts.

Reconstruction of #7 Facial Cleft With Distraction-Assisted In Situ Osteogenesis (DISO): Role of Recombinant Human Bone Morphogenetic Protein-2 With Helistat-Activated Collagen Implant

A case involving concomitant presentation of a #7 lateral facial cleft with a complete cleft of the ipsilateral lip, alveolus, and palate is presented. The mandibular defect was Pruzansky III with a foreshortened body, absent ramus and absent masseter. Taking advantage of developmental field theory, reconstruction of the osseous defect was undertaken using the autogenous periosteum as a source of mesenchymal stem cells. Expansion of the periosteum was followed by implantation of Helistat (Integra Life Sciences, Plainsboro, NJ) collagen sponge saturated with recombinant human bone morphogenetic protein-2. Stimulation of this distraction-induced envelope by rhBMP-2 resulted in abundant production of bicortical membranous bone in situ within 12 weeks. The neoramus was subsequently suspended from the cranial base, and a temporalis muscle transfer was used to provide motor control of the jaw. Synthesis of bone in this manner is termed DISO (distraction-assisted in situ osteogenesis). The biologic rationale and clinical implications of DISO are discussed.