Submucosal cleft palate

OBJECTIVE: Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. METHODS: Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula)...

We report on clinical and molecular findings of a 15-year-old female referred to our genetics clinic for a diagnostic evaluation due to mild developmental delay, submucosal cleft palate, and seizure disorder. Chromosomal microarray technology revealed a cancer predisposition due to a terminal deletion on chromosome 19p that includes the tumor suppressor gene STK11. In addition to abnormal lip pigmentation on exam, further diagnostic workup with upper and lower gastrointestinal screening confirmed polyps consistent with Peutz-Jeghers syndrome...

Velopharyngeal insufficiency (VPI) occurs in more than 20% of patients with a cleft palate after primary palatoplasty. Surgical treatment focuses on pharyngoplasty to narrow the nasopharyngeal space and to decrease the distance needed for palatal closure. Persistent VPI after pharyngoplasty affects more than 20% of patients.From September 2007 to December 2009, 16 children (10 boys and 6 girls) with a mean age of 9.5 years (4-15 years) underwent surgical revision using an AlloDerm sling for persistent VPI after at least 1 previous failed pharyngoplasty...

An accessory mandible is a rare congenital anomaly that requires multidisciplinary management. This case report describes a female patient with an unusual accessory mandible, a dysplastic overgrowth of bone, containing teeth that extended from the midsymphyseal region. A submucosal cleft palate and cleft of the lower lip were also present. Her treatment plan took a staged approach with initial surgical resection of the accessory bone and teeth. The second stage, still in the planning phase, will correct the secondary deformity of an anterior open bite and will restore the missing lower anterior teeth...

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...

BACKGROUND: Within the entity of craniofacial malformations premature craniosynostoses represent the majority of cases. They originate from disturbances in the ossification process, resulting in an osseous closure of cranial sutures ahead of time. Depending on severity and number of the affected sutures, a local or general growth inhibition of the skull follows. In the rare instance of accessory bones along these affected sutures, they may interfere with diagnostics and therapy. PATIENT: This clinical report describes the case of a seven-month-old male infant with multiple craniosynostoses, an extraordinary large accessory median calvarial bone, two foramina parietalia permagna and a submucosal cleft palate...

PURPOSE: Velo-cardio-facial syndrome (VCFS), the most common genetic syndrome causing cleft palate, is associated with internal carotid and vertebral artery anomalies, as well as upper airway asymmetry. Medially displaced internal carotid arteries, often immediately submucosal, present a risk of vascular injury during pharyngeal flap surgery for velopharyngeal insufficiency (VPI). We evaluate the frequency and spectrum of cervical vascular anomalies in a large cohort of VCFS patients correlating MRA with nasopharyngolaryngoscopy in detecting at risk carotid arteries...

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology...

OBJECTIVES: Adenoidectomy is indicated for the relief of paediatric nasal obstruction, sleep-disordered breathing and otitis media with effusion (OME). Velopharyngeal insufficiency (VPI) is a rare complication. The main risk factor is the presence of pre-existing velopharyngeal closure-impaired mechanisms, including submucosal or overt cleft palate. Despite possible benefits, adenoidectomy is frequently withheld in such children to avoid VPI. This study aims to demonstrate the efficacy and safety of partial adenoidectomy using suction diathermy in children who previously underwent overt cleft palate repair during infancy, to allow selective resection of tissue and symptom resolution without producing VPI...

A retrospective study was undertaken of 3100 facial cleft cases in order to analyse and determine the incidence of the isolated cleft of the hard palate. This presented as a very rare occurrence in three different variations, each having specific clinical appearances. The literature search revealed three publications each describing a single isolated hard palate cleft. However, these publications described hard palate clefts witnessed with other additional submucosal clefts or due to infection of the hard palate...

BACKGROUND: Solitary median maxillary central incisor syndrome is a unique developmental abnormality, involving the central incisor tooth germs, occurring with and without systemic involvement. This syndrome has been recorded in association with many other midline developmental anomalies and several known syndromes. Its presence, together with oromandibular-limb hypogenesis syndrome type 1, has not previously been reported. CASE REPORT: A 3-year-old girl was presented with early childhood caries and a solitary median maxillary central incisor...

OBJECTIVE: Even after adequate surgical and nonsurgical treatment, combined or isolated clefts often cause functional disorders, such as speech disorders. Speech disorders vary widely in extent and can take the form, for example, of specific features of articulation, with altered nasal emission and shifted articulation, leading to reduced speech intelligibility. So far it has not been possible to describe the relationship between cleft type and intelligibility except subjective, categorical evaluation...

A bifid uvula, midline diastasis of the palatal muscles, and notching of the posterior hard palate have classically formed a triad diagnosing submucosal clefts. The uvula has thus served as a tool for clinicians to detect the earliest signs of clefting. In this case report, we discuss how mucosal lining may be held together by mucous viscosity, making it difficult to detect notching or a grossly bifid uvula. We demonstrate a simple intraoperative technique to easily overcome this force. This paper involves a case report of an 8-year-old female undergoing an adenotonsillectomy...

OBJECTIVE: To determine the safety and effectiveness of endoscopic partial adenoidectomy for the treatment of nasal obstruction in children with submucosal cleft palate. METHODS: The medical files of children with symptoms of nasal obstruction and submucosal cleft palate who underwent partial transnasal endoscopic adenoidectomy from January 1993 to December 2003 were reviewed. Operative complications, relief of nasal obstruction, presence of postoperative velopharyngeal insufficiency were recorded...

Palatal fusion is a complex, multi-step developmental process; the consequence of failure in this process is cleft palate, one of the most common birth defects in humans. Previous studies have shown that regression of the medial edge epithelium (MEE) upon palatal fusion is required for this process, and TGF-beta signaling plays an important role in regulating palatal fusion. However, the fate of the MEE and the mechanisms underlying its disappearance are still unclear. By using the Cre/lox system, we are able to label the MEE genetically and to ablate Tgfbr2 specifically in the palatal epithelial cells...

Van der Woude syndrome is an autosomal dominant disease characterized by lower lip pits with or without cleft lip and/or cleft palate. The lip pits commonly have salivary glands that drain into them, which leads to salivary flow from the lip pits. Lip pits may be associated with submucosal palatal cleft, velopharyngeal insufficiency, or genitourinary or cardiovascular anomalies. The pits are treated by surgical resection. The authors report a case of van der Woude syndrome with isolated lip pits and speech difficulties that had been unrecognized until the patient was 6 years old...

We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique...

A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. The clinical presentation of ectodermal dysplasia with cleft palate was consistent with Rapp-Hodgkin syndrome, which is one of several allelic diseases associated with mutations in the TP63 gene. The clinical manifestations of Rapp-Hodgkin as well as other ectodermal dysplasias with clefting are discussed...

Velocardiofacial syndrome (VCFS) or Shprintzen's syndrome leads to cleft palate (69%), heart defects (74%), and characteristic facial dysmorphies as well as learning difficulties (70-90%). There is phenotypic overlap with DiGeorge syndrome (DGA). In 1992, it was shown that patients with VCFS had a partial 22q11 monosomy. The site and size of the deletion in many VCFS patients do not differ from patients with DGS. For the otolaryngologist, it is important to check for cardiac defects if the characteristic middle ear effects and possibly submucosal cleft palate are present...

No abstract text is available yet for this article.