Cleft Soft Palate Research Articles

Prosthetic Treatment of Congenital Hard and Soft Palate Defects

Obturator prostheses are used to improve mastication, speech, and swallowing by reestablishing oronasal separation and aesthetics in maxillary defect patients. A sectional and magnetically retained functional removable speech bulb prosthesis was planned to treat the congenitally cleft hard and soft palates of this patient. The obturator part, localized into lateral nasal undercuts covered with sound mucosa, was used to retain the complete denture. Two pieces of the prosthesis were joined together by a magnet in the mouth. A special hinge mechanism was added to join the complete denture and functional velopharyngeal parts of the prosthesis for the treatment of velopharyngeal inadequacy. Sufficient retention was obtained, and no major complications were seen in the patient's prosthesis in periodic controls.

Multidisciplinary Approach for Esthetic, Functional, and Quality-of-Life Outcome in Soft Palate Cleft Patient

The fabrication of a Suersen obturator prosthesis with titanium framework is described in the case of a 43-year-old man with congenital absence of the soft palate. The patient revealed an open soft palate, bilateral cleft lip and palate, Angle Class III dental malocclusion, and anterior and posterior crossbite. He was treated with a multidisciplinary approach. A Dolder bar was fabricated between the maxillary canines, and telescopic crowns were prepared for maxillary premolars. Angle Class III tooth relation was readjusted to tooth-tooth relation; closure of the nasopharynx and oropharynx was performed by Suersen method, which improves speech.

Poster 06: Case Series Utilizing Acellular Collagen Reinforcement in Full Primary Palatoplasty Cases for the Last 5 Years

Primary closure of the soft palate by 12-18 months of age has been shown to be instrumental in proper speech development and function. Several techniques have been discussed regarding primary soft palate cleft repair. Tension leading to necrosis and fistula formation at the hard/soft palate raphe after primary repair is not an unusual complication. A technique involving a two-layer closure of the posterior hard palate and three-layer closure of the soft palate has been the gold standard for cleft repair.

Otitis media in five cats associated with soft palate abnormalities

The medical records of five cats that were diagnosed with otitis media and soft palate abnormalities, three of which had concurrent otitis interna, were reviewed retrospectively. The animals presented with...

WIDE PALATAL CLEFT – SINGLE STAGE OR TWO STAGE CLOSURE

Clefts of lip and palate presents a distressing blow to the family of the patient and their surgical correction a challenging task for the reconstructive surgeon. The patients affected with this deformity are handicapped by the psychological feeling of separation from the society in addition to the horror of a chain of surgeries and visits to the dental office. In addition to these single procedures requiring two stage approach add to the existing sequence further hampering the psychological well being of the patient. Closure of a wide palatal cleft often entails a two stage closure to ensure proper speech and functional outcomes to prevent future dehiscence of wounds leading to fistulae formation. This paper discusses the report of a patient reporting with wide palatal cleft of hard and soft palate treated by a single stage closure in an attempt to reduce the number of surgical procedures for the patient, resulting in a satisfactory treatment outcome considering the width of the cleft and age of the patient at the time of presentation.

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

BackgroundPierre-Robin sequence (PRS) is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by mutations in the NF2 gene on chromosome 22q12.2. NF2 is characterized by bilateral vestibular schwannomas, spinal cord schwannomas, meningiomas and ependymomas, and juvenile cataracts. To date, NF2 and PRS have not been described together in the same patient.Case presentationWe report a female with PRS (micrognathia, cleft palate), microcephaly, ocular hypertelorism, mental retardation and bilateral hearing loss, who at age 15 was also diagnosed with severe NF2 (bilateral cerebellopontine schwannomas and multiple extramedullary/intradural spine tumors). This is the first published report of an individual with both diagnosed PRS and NF2. High resolution karyotype revealed 46, XX, del(22)(q12.1q12.3), FISH confirmed a deletion encompassing NF2, and chromosomal microarray identified a 3,693 kb deletion encompassing multiple genes including NF2 and MN1 (meningioma 1).Five additional patients with craniofacial dysmorphism and deletion in chromosome 22-adjacent-to or containing NF2 were identified in PubMed and the DECIPHER clinical chromosomal database. Their shared chromosomal deletion encompassed MN1, PITPNB and TTC28. MN1, initially cloned from a patient with meningioma, is an oncogene in murine hematopoiesis and participates as a fusion gene (TEL/MN1) in human myeloid leukemias. Interestingly, Mn1-haploinsufficient mice have abnormal skull development and secondary cleft palate. Additionally, Mn1 regulates maturation and function of calvarial osteoblasts and is an upstream regulator of Tbx22, a gene associated with murine and human cleft palate. This suggests that deletion of MN1 in the six patients we describe may be causally linked to their cleft palates and/or craniofacial abnormalities.ConclusionsThus, our report describes a NF2-adjacent chromosome 22q12.2 deletion syndrome and is the first to report association of MN1 deletion with abnormal craniofacial development and/or cleft palate in humans.

Tbx1 regulates oral epithelial adhesion and palatal development

Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate. However, the etiology of these forms of cleft palate has not been well understood. T-box transcriptional factor (Tbx) family of transcriptional factors has distinct roles in a wide range of embryonic differentiation or response pathways. Here, we show that genetic disruption of Tbx1, a major candidate gene for the human congenital disorder 22q11.2 deletion syndrome (Velo-cardio-facial/DiGeorge syndrome), led to abnormal epithelial adhesion between the palate and mandible in mouse, resulting in various forms of cleft palate similar to human conditions. We found that hyperproliferative epithelium failed to undergo complete differentiation in Tbx1-null mice (Tbx1(-/-)). Inactivation of Tbx1 specifically in the keratinocyte lineage (Tbx1(KCKO)) resulted in an incomplete cleft palate confined to the anterior region of the palate. Interestingly, Tbx1 overexpression resulted in decreased cell growth and promoted cell-cycle arrest in MCF7 epithelial cells. These findings suggest that Tbx1 regulates the balance between proliferation and differentiation of keratinocytes and is essential for palatal fusion and oral mucosal differentiation. The impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1(-/-) mice. Our present study reveals new pathogenesis of incomplete and submucous cleft palate during mammalian palatogenesis.

Cleft Palate Secondary to an Ingested Foreign Body: A Learning Experience

BackgroundCleft palate has usually been described as a congenital anomaly. Acquired clefting of the palate is rare and is usually due to penetrating trauma. ObjectiveTo report a case of cleft palate developing after ingestion of a coin due to prolonged impaction in the nasopharynx. Case ReportA 4½-year-old child presented with nasal regurgitation and nasal twang of voice. The parents reported a history of ingestion of a coin 2 years prior, which was undetectable on neck and chest X-ray study done at that time. Examination revealed a triangular cleft of soft palate. A diagnosis was made of an acquired cleft palate secondary to prolonged impaction of the coin in the nasopharynx. Under general anesthesia, the palatal defect was repaired in three layers. ConclusionThe case highlights the fact that ingested foreign bodies can get lodged in the nasopharynx and that nasopharynx X-ray study should always be done in cases of a disappearing foreign body in the aerodigestive tract.

ANO IMPERFORADO Y CATARATA CONGÉNITA EN EL SÍNDROME DE JOHNSON-MCMILLIN HALLAZGOS NO REPORTADOS O ADQUIRIDOS

Johnson et al. in 1983 described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern and variable expressivity. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. Apart from these cases, only seven patients with Johnson-McMillin syndrome have been report. The pathogenesis of this entity is uncertain y the differential diagnosis is extensive. We describe an unrelated female patient of eight -month-old. Alopecia, microcephaly, facial palsy, cleft soft palate and abnormalities of ears were significant for diagnosis. Also, she presented other clinical signs no associated with the syndrome as imperforate anus and bilateral congenital cataract.

The influence of the Tübingen soft palate plate and early cleft closure on the nasopharyngeal airway for the management of airway obstruction in an infant with Pierre Robin sequence: A case report

INTRODUCTIONA Tübingen palate plate and early cleft closure for successful airway management is described in a newborn with Pierre Robin sequence. PRESENTATION OF CASEA three-day-old newborn with an acute airway obstruction underwent primary treatment with a Tübingen soft palate plate. DISCUSSIONAfter stabilization of the airway, the cleft soft palate was closed after three months. CONCLUSIONThe Tübingen soft palate plate proved to be a very satisfactory treatment for the infant.

Microdeletion 3q Syndrome

The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life.

Advanced intravelar veloplasty for asymmetrical soft palate cleft reconstruction

Purpose: Of 3518 patients, 2777 presented with a soft palate cleft (sP). Intravelar veloplasty (Kriens, 1969) (Type I) was used until 1987. This was modified according to anatomical defects (Bütow & Jacobs, 1991) (Type II). In 2008, the Type II was further modified (Type III) according to Sommerlad (2003) and Ivanov (2008). The surgical outcome was evaluated in respect of symmetry, appearance of uvula and occurrence of oro-nasal fistula.

The relationship between cleft severity and incidence of associated heart defect in children with isolated cleft palate

To analyze the relationship between cleft severity and incidence of associated heart defect in children with isolated cleft palate (CP), as well as the characteristics of the heart defect. From Aug 2008 and Dec 2009, a total 416 children with CP underwent echocardiogram, and were divided into complete and incomplete CP groups. Then each group was further classified as unilateral or bilateral groups. Incomplete CP was subdivided into submucous cleft palate, soft palate cleft, hard and soft palate cleft. The associated heart defects were recorded and analyzed in each group. The data were analyzed statistically using SPSS 13.0. Chi-square test was used to compare the incidence between groups. In the series of 416 patients, 46 (11.1%) children were found to have an associated congenital heart disease. The incidence of heart defect was 9.9% (38/384) in the incomplete cleft group, and 25% (8/32) in the complete cleft group, showing a significant difference between the two groups ( F = 6.852, P < 0.05). Atrial septal defect was the most common heart defect, which accounted for 52.2% (24/46) of all associated heart malformations. Compared to incomplete cleft palate, complete cleft palate has a higher risk of heart defect. Cleft severity may be a predictor for congenital heart diseases in cleft palate. Routine echocardiogram should be considered in CP patients.

Pre-Surgical Management of Unilateral Cleft Lip and Palate in a Neonate: A Clinical Report

Cleft lip and palate deformity is a congenital defect of the middle third of the face, consisting of fissures of the upper lip and/or palate. Naso-alveolar molding provides excellent results when considered and started early in the neonatal. Early treatment is important not only due to esthetic and functional concerns, but also for a positive psychological impact it has on the child. In the pre-surgical management, an interdisciplinary approach is necessary where an Orthodontist and a Prosthodontist play a major role. Also any treatment procedure in an infant becomes difficult due to the lack of co-operation from the child. This clinical report describes the multidisciplinary approach for complete pre-surgical management of a neonate with complete unilateral cleft of soft palate, hard palate, alveolar ridge and lip.

A case of McKusick-Kaufman syndrome

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

Rare Association of Klippel Feil Syndrome with Cleft Palate and Congenital Cardiac Deformities: A Case Report

Klippel Feil Syndrome comprises of three characteristic deformities of short neck, a low dorsal hair line and restricted neck mobility. This is a case report of Klippel Feil Syndrome and its rare association with cleft of hard and soft palate, coarctation of aorta, dextrocardia and situs inversus. An interdisciplinary approach towards the management included cardiac surgery, cleft repair and complete oral rehabilitation of the patient. Presently the patient is undergoing speech therapy and is under regular follow up.

Repair of cleft palate in a calf using polypropylene mesh and palatal mucosal flap: a case report

The soft palate plays a critical role in the oral and pharyngeal phases of swallowing. Congenitally cleft soft palates (palatoschisis) in calves are rare and pose a serious challenge for surgical correction due to high complication rates. The main obstacles to repairing palate defects are obtaining complicated access to the soft palate, and reducing the tension on the repair so that the sutures hold. A 21 day old female Simmental calf was submitted to our clinic with a history of frequent episodes of coughing and milk dripping from its nostrils after suckling. After clinical examination, a congenital cleft palate was diagnosed. Surgery was performed under general anaesthesia. First, lateral buccotomy was performed to improve the intraoral approach. The palatal defect was repaired using polypropylene mesh and palatal mucosal flap. An oesophageal tube was placed and anchored to the skin using a Chinese finger trap suture technique. Antibiotic treatment was continued through seven days and a transoesophageal feeding tube was fitted at the end of the surgery allowing the calf to be fed with milk during the postoperative period. Postoperatively, the caudal aspect of the repair broke down resulting in persistent mild bilateral nasal discharge. A combination of the two described techniques can be a good option for resolving palatal defects. However, adequate exposure and repair are still difficult to achieve and these approaches often result in serious postoperative complications.

Repair of cleft lip and simultaneous repair of cleft hard palate with vomer flap in unilateral complete cleft lip and palate: a comparative study

Repair of anterior palate after repairing the cleft lip in complete cleft lip and palate patient is sometimes very difficult. It needs wide, extensive and difficult dissection, and has later chances of wound infection, wound dehiscence, complete wound disruption, recurrent oronasal fistula formation and also maxillary hypoplasia. In this study, we compare the outcome of simultaneous repair of cleft lip and cleft hard palate with vomer flap against cleft lip repair alone in patients with unilateral complete cleft lip and palate (UCLP). A prospective study was carried out in 43 patients with UCLP. In Group A, 23 patients underwent cleft lip and cleft hard palate repair with vomer flaps simultaneously, and only cleft lip repair was done in another 20 patients in Group B at the first sitting. After 3 months in both groups, repair of the cleft soft palate and cleft entire palate was done. The gaps of the cleft alveolus and posterior border of the cleft hard palate were measured during the first and second operation, and duration of operations, postoperative complications and requirement of blood transfusion during the operation were also recorded. The procedure of simultaneous repair of cleft lip and closure of cleft hard palate with a vomer flap is easy to perform. Cleft alveolar and gap of the posterior border of the cleft hard palate were reduced remarkably. No fistula formation occurred and no blood transfusion was needed, but the procedure took some extra operating time. These were compared with simple cleft lip repair. Repairs of cleft lip and simultaneous closure of cleft hard palate with vomer flaps are safe in patients with UCLP, and it makes easy the closure of the soft palate later on and decreases the chance of oronasal fistula.

Maxillary distraction complications in cleft patients

Cleft lip and palate (CLP) patients often present with a class III malocclusion in connection with a three dimensional maxillary hypoplasia. Twenty-five to 60% of these patients need maxillary advancement. Two solutions are possible: orthognathic surgery and maxillary distraction. The purpose of this study was to evaluate the complications of maxillary distraction in CLP patients. Data was collected from the records of patients treated in our surgery unit between 2000 and 2007. Among the eight patients (four male and four female), five presented with a bilateral CLP, two with a unilateral CLP, and one with a unilateral cleft lip associated to a soft palate cleft. The average age at surgery was 17 years. All underwent a Le Fort I osteotomy with a pterygomaxillary disjunction. An external distractor was used for the first two patients and an internal distractor for the six following patients. After a seven-day latency, activation was implemented at a rate of 1mm twice a day. The average period of consolidation was four months. Maxillary advancement ranged between 7 and 19mm, with an average of 12.6mm. The average follow-up was four years. Complications were noted in seven patients: one intra-operative hemorrhage, one avulsion of a tooth anchored at the pterygoid process during osteotomy, three cases of device dysfunction, two cases of significant pain during activation, one loosening of the orthodontic arch in an external system, two cases of labial ulceration, and one maxillary sinusitis due to migration of a wisdom tooth. Complications of maxillary distraction in CLP patients were very frequent. Most were related to the device and did not interfere with the final result. This must be taken into account when indicating distraction and choosing the device. Two types of complications can occur during distraction: those related to the osteotomy and those related to the device. The complications related to the osteotomy are linked to the cicatricial ground of previous surgery. They are not specific to distraction. The comfort of the internal device is undeniable, but the design of some models must be reviewed to improve their tolerance.

Comparative study between V-Y pushback technique and Furlow technique in cleft soft palate repair

Many methods of cleft palate repair have been described. Two effective methods are commonly used for repair of soft palate clefts: the Wardill-Kilner V-Y push back and the Furlow double opposing Z-plasty; each has advantages and disadvantages. The aim of this study was to compare between the V-Y push back technique and the Furlow Z-plasty technique regarding effectiveness in palatal reconstruction and improvement of velopharyngeal closure in cases of cleft soft palate. Also, operative duration time and blood loss were considered. This study was conducted on 60 patients diagnosed to have cleft soft palate. The patients were randomly classified into two equal groups A and B. In group A, the cleft palate was repaired using V-Y push back technique while in group B the cleft palate was repaired using Furlow double opposing Z-plasty technique. Flexible nasopharyngoscopy and perceptual speech resonance evaluation were used to assess the velopharyngeal closure and speech outcome, respectively. Nasalance score was measured for nasal and oral sentences in both groups. The average operative duration time and blood loss were lesser in Z-plasty than in V-Y pushback technique. Two of the cases subjected to V-Y pushback technique developed fistula while none of the cases subjected to Z-plasty showed this complication. Velopharyngeal closure and speech outcome was better after Z-plasty than after V-Y pushback technique with significant nasometric data. The Furlow Z-plasty is better than the V-Y pushback technique in the repair of clefts involving the soft palate as it has a higher success rate regarding speech outcome and velopharyngeal closure; also, it has a lower operative time and blood loss.