Submucosal Cleft Palate Research Articles

The presence of a submucous cleft palate in patients with isolated cleft lip and middle ear dysfunction

PurposeRecent studies have suggested that children with an isolated cleft lip (CL) are more likely to develop middle ear disease and eustachian tube dysfunction (ETD) compared to the general population. This may be related to abnormal palatal musculature or an undiagnosed submucosal cleft palate (SMCP). We aim to determine the prevalence of SMCP in patients with CL who exhibit ETD. Materials and methodsA retrospective chart review was performed for children with an isolated CL requiring tympanostomy tubes over a 20-year period at an academic tertiary care medical center. Demographic, clinical, and surgical data were collected. ResultsThree hundred twelve patients had an isolated CL, and 29 (9.3 %) children required tympanostomy tubes. Of those, nine (31 %) were found to have a SMCP (7 males, 6 Caucasian). The average age at CL repair was 3.94 ± 1.03 months, and the average age at tympanostomy tube placement was 13.68 ± 13.8 months. All nine patients had chronic otitis media, with four having mild conductive hearing loss and three having moderate conductive hearing loss. The SMCP was diagnosed at the time of CL diagnosis (4), after CL diagnosis with the diagnosis of chronic otitis media/ETD (2) and after a diagnosis of chronic otitis media/ETD. ConclusionMiddle ear disease or eustachian tube dysfunction in a patient with an isolated cleft lip should raise suspicion for an accompanying undiagnosed SMCP.

Sommerlad–Furlow modified palatoplasty: A retrospective study

The purpose of this study was to introduce the surgical process of Sommerlad–Furlow modified (S–F) palatoplasty and compare its surgical and functional outcomes with conventional Sommerlad (S) palatoplasty.Patients with non-syndromic cleft palate who had undergone either S–F palatoplasty or S palatoplasty were retrospectively reviewed. Data on the outcomes of velopharyngeal function and postsurgical palatal fistula incidence were collected for all patients. Data for preselected factors, including gender, age at palatoplasty, and cleft type, were also collected. Chi-square tests were conducted.1254 patients were included. The postsurgical velopharyngeal competence (VPC) rate after S–F palatoplasty was significantly higher than after S palatoplasty (total, 70.5% vs 57.9%, p < 0.0001; age ≤ 1, 87.0% vs 69.2%, p < 0.0001; 1 < age ≤ 2, 78.3% vs 69.3%, p = 0.0479). With regard to different types of cleft palate, the postsurgical VPC rates after S–F palatoplasty were all significantly higher than for S palatoplasty in all patients younger than 2 years of age (complete cleft palate, 78.7% vs 62.4%, p = 0.0016; hard and soft palate cleft, 84.4% vs 74.8%, p = 0.0172; submucosal cleft and soft palate cleft, 96.6% vs 68.4%, p = 0.0114). The postoperative fistula rate after S–F palatoplasty was 4.3%.This modified palatoplasty technique provided adequate cleft palate closure, with satisfactory speech outcomes and low fistula rates, while older age at palatoplasty may affect the postsurgical outcomes. Within the limitations of the study it seems that the Sommerlad–Furlow modified technique is an option for cleft palate repair.

A Case of Sphincter Pharyngoplasty for Persistent Velopharyngeal Insufficiency After Submucosal Cleft Palate Surgery

Velopharyngeal insufficiency (VPI) is a phenomenon that can occur due to anatomical or neurological causes of the soft palate. VPI can make the patient difficult to articulate through hypernasality and nasal emission. There has been needed the customized treatment, as VPI can occur for many causes. We present the case of 21-year-old male who took palate plastic surgery 20 years ago for congenital submucosal cleft palate. As he had poor contraction of both lateral side of velopharynx, he was diagnosed with coronal type VPI. Through sphincter pharyngoplasty, he can obtain improvement of articulation accuracy. We would like to share this challenged case.

High incidence of cleft palate and vomer deformities in patients with Eustachian tube dysfunction

Although the cleft palate is regarded as a contraindication for Eustachian tube ballooning, the presence of submucosal cleft palate may be overlooked while diagnosing Eustachian tube dysfunction. Therefore, we aimed to determine the incidence of the presence of a hard palate bony notch and vomer defect, which indicate the presence of submucosal cleft palate in patients with Eustachian tube dysfunction. In the Eustachian tube dysfunction group (n = 28), 4 patients (14.3%) exhibited a hard palate bony notch and a concurrent vomer defect. Three of them exhibited the presence of occult submucosal cleft palate, which had not been diagnosed previously. None of the control group (n = 39) showed any of these findings. The hard palate length of patients in the Eustachian tube dysfunction group was significantly lesser than that of those in the control group (34.2 ± 5.6 mm vs. 37.2 ± 2.1 mm, P = 0.016). Patients with Eustachian tube dysfunction have a high incidence of submucosal cleft palate and its occult variant, which are challenging to diagnose without any preexisting suspicion. Clinicians should evaluate the hard palate and vomer to exclude the presence of occult submucosal cleft palate while diagnosing Eustachian tube dysfunction.

Evaluation of fistula rates in three cleft palate techniques without relaxing incisions

The aim of the present study was to investigate the incidence of postoperative fistula formation from a hybrid cleft palate repair compared to that from two well-established techniques.We performed a modified technique, Sommerlad-Furlow (SF), which combined the repositioning of the levator veli palatini muscles as described by Sommerlad with the double opposing Z-plasty of Furlow to lengthen the soft palate. A retrospective cohort study was conducted to evaluate patients who underwent cleft palate repair utilizing SF, Sommerlad, or Furlow techniques with the incidence of palatal fistula as the target endpoint.A total of 1,164 patients were included in the present study and underwent the following techniques: 603 cases with SF, 244 cases with Furlow, and 317 cases with Sommerlad. In addition to not requiring relaxing incisions, SF advantages included a consistently lower fistula rate compared to that of the Sommerlad technique, as well as the lowest fistula rate in patients with both hard and soft palate clefts without a cleft lip (OR:2.62 95% CI: 1.35, 5.09). However, the differences among the three techniques did not reach statistical significance in terms of a bilateral or unilateral cleft lip/palate, or in patients with a soft palate only or a submucosal cleft palate(OR: 2.22,95% CI:0.77, 6.37).Based on the results of our study, the Somerlad-Furlow technique should be preferred whenever possible.

Treatment of velopharingeal insuffitiency with turn over mucoperiosteal palatinal flap in a patient with DiGeorge syndrome

Introduction. DiGeorge syndrome (velocardiofacial syndrome) occurs in about 1 in 4,000 people. It is characterized by incomplete gene penetration, due to which there is significant variability in the clinical picture in different patients. The paper describes the successful application of an inverted mucoperiosteal flap of the palate in a nine-year-old girl with DiGeorge syndrome who had pronounced velopharyngeal insufficiency (VPI). Case report. The girl was the first-born child from a normal pregnancy and a normal birth with a normal early psychomotor development. During breastfeeding, milk was occasionally returned to the nose, and later deviations from normal speech (incomprehensible and nasal speech) were noticed. At the age of 4, detailed genetic testing was performed and a microdeletion of 22q11 chromosome was found. Also, a submucosal cleft palate was established, and magnetic resonance angiography of the head and neck revealed an abnormal position of the left internal carotid artery (ICA) that extended submucosally to the central axis of the posterior wall of the pharynx. Then, the submucosal cleft palate was surgically resolved in other clinical center, but without speech improvement. Pharyngoplasty was not performed due to the risk of serious post-operative complications. It was explained to the parents that speech recovery will not be satisfactory without surgical treatment of VPI. At the age of 9, the girl was admitted to the Clinic for Plastic and Reconstructive Surgery and Burns of the Military Medical Academy in Belgrade for surgical treatment of VPI. Taking into account the potential risks of certain surgical methods, it was decided to perform intravelar veloplasty according to Furlow. Since it was intraoperatively found that the soft palate is too short and that this procedure cannot provide its sufficient length, the mucoperiosteal flap was lifted from the palate to the palatal aponeuroses on the posterior edges of the palatine bones leaving their oral surfaces exposed. The mucoperiosteal flap raised in this way could not also provide the required length of the soft palate only by retroposition. However, its length is 160% of the soft palate axis length, which was enough to turn over the front of the flap towards the pharynx of the soft palate to reach its posterior wall. The raised mucoperiosteal palatal flap has no muscles, so its motility was achieved by the fact that along the edges of the existing short and mobile palate, the flap was fixed to the existing palate and uvula. This provided the anatomical preconditions for speech recovery, shown during the one-year post-operative follow-up of the child. Exposed palatine bones and short palate was covered by mucosal tissue, without cystic formations. Conclusion. The mucoperiosteal palatal flap can be easily, successfully and maximally safely applied in the resolution of VPI in patients with DiGeorge syndrome where there is an aberrant submucosal position of the ICA. This flap could be a ?flap of choice? for such patients with atopic position of the ISA, too.

Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series.

Background:Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder being classified as Kallmann syndrome (KS). The present study was conducted to study the genotype and relative proportion of different genetic mutations in IHH and to assess its correlation with phenotype.Methods:Eleven consecutive subjects presenting to the Department of Endocrinology were retrospectively analyzed during May 2017 to December 2018 with IHH. Phenotypic features and hormonal studies were analyzed along with clinical exome by targeted gene sequencing (Next generation sequencing). Thirty-nine relevant genes were tested in the analysis.Results:Of the 11 patients studied, five had KS and six had nIHH. At diagnosis, mean chronological age was 25 years. There were associated anomalies in KS group including bimanual synkinesia (n=2), unilateral renal agenesis (n=1) and submucosal cleft palate (n=1). Absence or hypoplasia of the olfactory bulb/sulci was found in 4/5 patients with KS. Genetic mutations in KAL1, CHD7, FGFR1, GNRHR, PROKR2, HS6ST1 genes were found in nine of the eleven subjects. Of the five subjects with KS, two had mutations in KAL1 gene. Two siblings who had bimanual synkinesia had CHD7 mutation. The genotype of nIHH subjects (n=6) was more heterogeneous.Conclusion:This study analyzed the clinical, endocrinological, and genetic features in IHH patients. Detectable genetic mutations were seen in a large proportion of cases. A considerable heterogeneity was seen in the genotype with new variants detected. A definite correlation of phenotype-genotype was not possible, and significant overlap was seen between CHD7 and KAl1, and FGFR1 phenotypes.

A-053 Importance of Neuropsychological Assessment in a Patient with DiGeorge Syndrome

Abstract Objective 22q11.2 Deletion Syndrome, (DiGeorge Syndrome), is a genetic disorder which commonly causes heart defects, a submucosal cleft palate, and other health conditions, in addition to developmental delays. Individuals with DiGeorge Syndrome are more likely to have Attention-Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD), with research also supporting a high risk for developing schizophrenia in adulthood. Method In this case study, a 22-year-old woman presented with DiGeorge Syndrome and trunkus arteriosus at the Department of Human Services (DHS) for employment services. Additionally, the patient’s parents reported concerns about behavioral outbursts and emotional regulation difficulties for the last three years. The patient completed a full neuropsychological, cognitive, and emotional assessment battery to help understand any neurocognitive and psychological limitations in obtaining and maintaining employment. Results On neurocognitive testing, she performed in the Severely Impaired range on measures of attention, processing speed, working memory, verbal memory, visual memory, visuospatial ability, motor functioning, and nonverbal problem solving. While performing in the Moderately Impaired range for tactile memory, verbal fluency, and cognitive flexibility. However, the patient exhibited a personal strength on the Verbal Comprehension Index of the Wechsler Adult Intelligence Scale—Fourth Edition (WAIS-IV). On emotional functioning testing, she did not display early signs of schizophrenia nor psychosis. However, the patient did express emotional and behavioral signs of ADHD and ASD. Conclusion This case study emphasizes the need for neuropsychological testing and ongoing psychological monitoring for individuals with DiGeorge Syndrome, as it relates to treatment recommendations and planning.

Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures

IntroductionPatients with 22q11.2 deletion syndrome (22q11.2DS) have a variety of anatomic anomalies. For surgeons operating in proximity to the retropharynx, the most pertinent is medial displacement of the internal carotid arteries. The purpose of this study is to describe the preoperative use of magnetic resonance angiography (MRA) in surgical planning and update the incidence rate of medial carotid displacement in patients with 22q11.2DS. MethodsThis is a retrospective cohort study of patients with a confirmed diagnosis of 22q11.2 deletion and preoperative MRA <18 years old who underwent tonsillectomy, adenoidectomy, Furlow palatoplasty (FPP), posterior pharyngeal flap (PPF), sphincter pharyngoplasty (SPP), or submucosal cleft palate (SMCP) repair between January 1st, 2008 and December 31st, 2019. ResultsNinety patients who met the inclusion criteria underwent 133 procedures. The majority identified as Caucasian (84.4%); 52.2% were female. Cervical MRA was more likely to be ordered before a PPF (80.9%) and tonsillectomy (72.7%) over a FPP (47.6%) or adenoidectomy (11.1%). Carotid medialization was visualized in 23 patients (25.6%) and was mild in 11 cases, moderate in 7 cases, and significant in 5 cases. There was no association between sex, race/ethnicity, or genetic diagnosis with carotid medialization. Flap shortening was necessary in 20% of PPF cases to avoid injuring the medialized vessel. ConclusionPatients with 22q11.2DS may have higher rates of medialization of the carotid arteries than previously thought. Given the risk for complications in these patients during pharyngeal operations, there may be a critical place for MRA in surgical planning for patients with 22q11.2DS.

Surgical management in a severe OSA patient diagnosed with Stickler syndrome

Stickler syndrome is a genetic disorder of connective tissue. One of the major symptoms associated with this disorder is an oro-facial malformation, which may cause a submucous cleft or a complete cleft of the hard palate. A 32-year-old man diagnosed with Stickler syndrome and a submucosal cleft palate (SMCP) visited our hospital with a chief complaint of excessive daytime sleepiness. The patient was diagnosed with severe obstructive sleep apnea (OSA), and administration of a polysomnography test revealed an apnea-hypopnea index (AHI) of 30.9 events/hour (h). Auto-titrating continuous positive airway pressure was initiated to control the OSA symptoms and subsequently the patient showed some improvement. However, due to continuous velopharyngeal insufficiency symptoms, intravelar veloplasty was performed. Three months after surgery, the AHI had decreased to 12.4 events/h. Recent studies have described a greater risk for OSA in individuals with cleft palate, than in the general population. The present case demonstrates surgical success in a patient with OSA and SMCP, suggesting that palatal surgery may be considered an optional surgical treatment for OSA patients with SMCP.

Partial Adenoidectomy in Patients With Palatal Abnormalities.

Velopharyngeal insufficiency is a feared complication of adenoidectomies in patients with palatal abnormalities. Thus, the benefits of adenoidectomy in this population are less understood. The techniques of partial adenoidectomy aim to preserve velopharyngeal closure while sufficiently debulking the nasal airway to ameliorate obstruction and snoring. Systematic review of online databases using a combination of search terms including "cleft palate," "submucosal cleft palate," "short palate," "adenoidectomy," "partial adenoidectomy," "subtotal adenoidectomy," and "powered adenoidectomy." Two independent reviewers assessed the eligibility of each study based on predefined inclusion criteria. From 323 studies identified, 8 were included. All were retrospective case series, except 1 prospective study. Study period ranged from 1.1 to 14 years (median 7.5 years). There were 172 patients with a cleft palate (n = 80), submucous cleft palate (n = 67) or another defined palatal abnormality [short soft palate (n = 14), bifid uvula (n = 4), questionable palatal mobility (n = 4) or incomplete CP (n = 3)] identified. Mean age was 5.5 years and just over half were male (58%). Nearly all patients showed improvement in nasal airway obstruction and snoring. The pooled risk for velopharyngeal insufficiency across all studies was 2 out of 122, which approximates to 1.6% of patients. There were very few complications. This is the first systematic review of partial adenoidectomy in patients with palatal abnormalities. Sub-total adenoidectomy in patients with submucosal cleft palate or repaired cleft palate appears to be a safe and efficacious procedure. There is; however, a need for prospective data collection using a standardized technique in large patient series required to properly assess outcomes.

Neonatal epignathus in the oral and pharyngeal regions: A case report

AbstractCongenital teratoma that arises in the oropharyngeal region is called epignathus. Here, we report a case in which large epignathus extending from the pharynx to the oral cavity was resected. A female fetus was found to have a mass extending on her face to the pharyngeal region during a sonographic examination performed at 33 weeks’ gestation. On the 9th day after birth, the tumor extending from the left nostril (10 cm) was excised by the pediatric surgeons. The residual tumor protruded from the oral cavity day by day. Pediatric and oral surgeons resected the tumor (14.5 cm). A bifid uvula was noted and submucosal cleft palate was suspected. No recurrence has been seen after 4 years’ follow‐up.

Abstract: Prophylactic Use of Buccal Fat Flaps to Improve Oral Mucosal Healing Following Furlow Palatoplasty

BACKGROUND: Furlow palatoplasty (FP) is increasingly used both for primary palatoplasty and secondary correction of VPI. While FP offers the advantage of lengthening the palate, the most tenuous component of the oral mucosal repair is anterior transposition of the oral mucosal z-plasty flap. When a secondary FP was done to correct VPI following primary FP, the senior author found oral mucosal separation in 53% of cases. To mitigate this problem, we prophylactically placed pedicled buccal fat pad flaps to provide an additional vascular layer to promote healing of the overlying oral mucosal z-plasty flap. METHODS: A retrospective chart review identified patients who underwent pedicled buccal fat pad flaps with FP performed by the senior author (A.G.). Cleft palate diagnosis, Veau classification, primary and secondary palate repair surgeries, surgical technique and post-operative complications were extracted. The need for buccal fat flap augmentation was determined if the oral mucosal z-plasty flap showed duskiness during transposition or was under tension at the time of closure. Unilateral versus bilateral buccal fat flaps were chosen based on expected areas of tension in the final repair. On the buccal mucosa, a longitudinal incision just lateral to the most posterior aspect of the alveolar ridge was made, from which buccal fat was gently teased out. This was tunneled submucosally to the palatal repair site, where it was secured just posterior to the hard palate and anterior to the transposed levator veli palatine muscle. The oral side of the Furlow palatoplasty was then brought together over these pedicled buccal fat flaps. RESULTS: We identified six patients who underwent FP with buccal fat flap augmentation. Two patients (33%) were primary FP while four patients (67%) were secondary FP. Three patients had unilateral cleft lip and palate, two had submucosal cleft palate and one had cleft palate only. The youngest patient was 11 months old, and the oldest was 7 years and 9 months. Half of the procedures used bilateral buccal fat pad flaps while the remainder were unilateral. All patients were seen at two weeks postoperatively and followed up regularly, with average follow-up time of 21 months (range 8–41 months). Post-operatively, one patient demonstrated a 1 cm area of mucosal dehiscence at the tip of the posterior triangular flap, which healed uneventfully. There were no other post-operative complications observed, including donor-site complications, complications relating to the buccal fat pad flap. No patient developed an oronasal fistula. DISCUSSION: Our experience suggests that the buccal fat pad flap may minimize vascular compromise and dehiscence of the oral mucosal z-plasty following FP. This separation rate decreased from 8/15 (53%) patients in our prior series of secondary FP procedures to 1/4 (25%) patients undergoing secondary FP with buccal fat flaps. Cleft palate surgeons should consider adding this low-risk technique to their repertoire, as it provides an additional vascular layer beneath the most tenuous part of the oral mucosal closure in a FP, and may improve vascularity to the overlying oral mucosa so as to minimize dehiscence at this closure.

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

IntroductionBifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate.ObjectiveIn this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population.MethodsWe conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS® version 19.0, by applying Chi-Square tests. Values with p < 0.05 were considered statistically significant.ResultsOf the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p = 0.773). The average age of children was 3.75 years (standard deviation ± 3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly.ConclusionThis study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix. Transfection assays demonstrated that the gene mutations destabilize the molecule, dramatically reducing HYAL2 protein levels. Consistent with the clinical presentation in affected individuals, investigations of Hyal2-/- mice revealed craniofacial abnormalities, including submucosal cleft palate. In addition, cor triatriatum sinister and hearing loss, identified in a proportion of Hyal2-/- mice, were also found as incompletely penetrant features in affected humans. Taken together our findings identify a new genetic cause of orofacial clefting in humans and mice, and define the first molecular cause of human cor triatriatum sinister, illustrating the fundamental importance of HYAL2 and hyaluronan turnover for normal human and mouse development.

19q13.32 microdeletion syndrome: Three new cases

A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. Both the previously reported patient and our Patient 1 with a larger, 1.3-Mb deletion have distinctive dysmorphic features and medical problems, allowing us to define a recognizable 19q13.32 microdeletion syndrome. Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospadias, bilateral inguinal hernias, double toenail of the left second toe, partial 2–3 toe syndactyly, kyphoscoliosis and colonic atony. Therefore, the common features of the 19q13.32 microdeletion syndrome include facial asymmetry, ptosis, oculomotor paralysis, orofacial clefting, micrognathia, kyphoscoliosis, aortic defects and colonic atony. These findings are probably related to a deletion of some combination of the 20–23 genes in common between these two patients, especially NPAS1, NAPA, ARHGAP35, SLC8A2, DHX34, MEIS3, and ZNF541. These candidate genes are expressed in the brain parenchyma, glia, heart, gastrointestinal tract and musculoskeletal system and likely play a fundamental role in the expression of this phenotype. This report delineates the phenotypic spectrum associated with the haploinsufficiency of genes found in 19q13.32.

Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome

Background: Duane retraction syndrome (DRS) is the most common of the congenital cranial dysinnervation disorders (CCDDs). CCDDs can be monogenic or chromosomal in origin. Identification of the genetic cause(s) in patients and families with DRS facilitates definitive diagnosis and provides insights into these developmental errors.Materials and Methods: This study described a young girl with DRS on the left and several additional developmental abnormalities. Clinical examination including neuroimaging, sequencing of candidate genes associated with DRS, and array comparative genomic hybridization (array CGH) were performed.Results: The proband had unilateral DRS type 3 on the left with somewhat low-set ears, mild motor delay with normal intelligence, and an asymmetric neck without a palpable right sternocleidomastoid muscle. Spine X-rays revealed a Klippel-Feil syndrome (KFS) and an MRI showed a webbed neck. She also had spina bifida at C8-T1 and a submucosal cleft palate. The parents of the proband were related with no other family member affected similarly. Sequencing of SALL4, CHN1, HOXA1, and TUBB3 did not show any mutation. Array CGH revealed de novo deletions of 21 Kb on chromosome 12q24.31 and 11 Kb on chromosome 22q13.31, each encompassing only one gene, ring finger protein 34, E3 ubiquitin protein ligase (RNF34) and peroxisome proliferator-activated receptor alpha (PPARA) respectively.Conclusions: This patient presents an unusual phenotype associated with a unique combination of two chromosomal microdeletions.

Powered instrumentation for transnasal endoscopic partial adenoidectomy in children with submucosal cleft palate

ObjectivesPartial adenoidectomy is the selective removal of the obstructing part of adenoid tissue, thus relieves obstruction symptoms and preserves the velopharyngeal valve action. Patients with palatal dysfunction are candidates for the technique. This study describes the use of microdebrider, transnasally (guided by the nasal endoscope) to perform partial adenoidectomy in patients with submucosal cleft palate, who presented with adenoidal hypertrophy and also it discusses its effects on nasal obstruction and speech. Subjects and methodsThis prospective study was carried out on twenty-three submucosal cleft palate patients who were referred to the ORL-HN department; Zagazig University Hospitals complaining of respiratory obstruction and sleep disturbances due to adenoids hypertrophy. After preoperative nasoendoscopic and speech evaluation, transnasal endoscopic, power-assisted partial adenoidectomy was done for all patients. All patients were followed up at regular visits including nasoendoscopy and speech evaluation. ResultsThe procedure insured fast, safe, reliable, under vision and well controlled steps. Intraoperatively no major complications were recorded. During follow up, nasal obstruction and respiratory obstruction symptoms were improved. Speech outcome results were reported. ConclusionThe study demonstrates the feasibility of using the microdebrider for performing transnasal partial adenoidectomy (under endoscopic guidance). The procedure is precise, rapid, safe and well-tolerated with the advantage of direct visualization of a traditionally difficult-to-expose area. The study reported improvement of respiratory obstruction symptoms with good speech results.

Facial aesthetics and perceived need for further treatment among adults with repaired cleft as assessed by cleft team professionals and laypersons

Sir, We read with great interest the recent article by Foo et al . (2013), on ‘Facial aesthetics and perceived need for further treatment among adults with repaired cleft as assessed by cleft team professionals and laypersons’. However, we would like to express the following comments regarding the methodology of this study. 1. The sample of cleft patients used for this study is not homogeneous and included 44 bilateral and 33 unilateral cases with cleft lip and palate, as well as one patient each with isolated cleft lip, isolated cleft palate and a submucosal cleft palate. A study …

A 25-year review of cases with submucous cleft palate

ObjectivesTo evaluate the effect of diagnostic and operative time on velopharyngeal closure in submucosal cleft palate (SMCP). MethodsSMCP patients treated at the Keio University School of Medicine from 1986 to 2011 were enrolled as subjects. Clinical data were obtained, including patient sex, age at diagnosis, and operative age, occasion of diagnosis, accompanying deformities, speech test results before and 6 months after palatoplasty, and pharyngeal flap usage after palatoplasty. ResultsData were available for 16 patients, with a mean diagnostic age of 51.1 months (range: 0−132 months). The clinical presentations were bifid uvula in 4 patients and speech dysfunction in 11. The cases suspected from bifid uvula were diagnosed significantly earlier than those with speech dysfunction (19.5 versus 56.8 months, p<0.01). Velopharyngeal closure was improved in 6 cases, and the average age of these patients at surgery was significantly lower than that of the other patients (46.7 versus 79.8 months, p<0.05). A pharyngeal flap was performed in 7 cases (43.8%). The pharyngeal flap usage rate in cleft palate patients other than those with SMCP was significantly lower than that of SMCP patients (3.5% versus 43.8%, p<0.01). ConclusionsEarly discovery and surgical correction is vital for improving postoperative speech outcomes in SMCP patients. This requires educating physicians about SMCP and future studies regarding simple and effective SMCP screening methods.