Cleft Anomalies Research Articles

Analysis of the Clinical Features and Surgical Outcomes of First Branchial Cleft Anomalies.

To analyze the clinical features and otologic manifestations of first branchial cleft anomalies (FBCAs) and the disparity between Work's classification, and to explore the relationships between postoperative facial paralysis and features of FBCAs. Retrospective clinical study. A retrospective analysis of 109 patients with FBCAs was conducted, including clinical characteristics and otologic features. Pearson chi-square tests and Fisher's exact tests were used to compare disparity between Work's classification, and the impact factors of postoperative facial paralysis among 86 patients who were explored in follow-up. Patients with FBCAs presented with otologic symptoms, including cysts or fistula in the external auditory canal (EAC) and periauricular (43.2%), microtia (3.7%), EAC web (1.8%), otitis media (1.8%), and otorrhea (4.6%). Eighty-five cases (78.0%) were type I FBCAs and 24 (22.0%) were type II. Compared to type I FBCAs, type II (58.3%) was more likely to be located deep to the facial nerve (FN) and to have superficial parotidectomy on them (79.2%). This difference was statistically significant (P < .001). FBCAs deep to the FN had a higher incidence of postoperative facial paralysis (P < .05). The majority of patients (55.0%) had otologic symptoms. The FBCAs of Work type II was commonly deep to the FN and superficial parotidectomy was frequently performed. Postoperative facial paralysis was associated with FBCAs located deep to the FN, but not with Work's type. 4 Laryngoscope, 132:1008-1014, 2022.

Type I second branchial cleft cyst in an adult patient

Branchial cleft anomalies are rare diseases of head and neck region. Second branchial cleft anomalies represent more than 95% of all branchial cleft anomalies. Second branchial cleft cyst is a benign developmental cyst due to the incomplete obliteration of pharyngeal cleft. A 46-year-old female patient reported to hospital with a complaint of swelling over the left side of the neck since 4 to 5 months. On clinical examination, swelling was seen below and behind the angle of mandible on the left side. The patient was evaluated using ultrasound and contrast enhanced computerized tomography (CECT) of neck which revealed second left bronchial cleft cyst/enlarged cystic lymph-node. Fine needle aspiration cytology of the swelling showed features of cystic lesion. Type-I branchial cleft cyst is a rare condition with a significant risk of misdiagnosis. To avert misdiagnosis and surgical complications, thorough investigation must be performed prior to surgical intervention.

Patho-Anatomic Spectrum of Branchial Cleft Anomalies: Proposal of Novel Classification System

Histogenesis, nomenclature, and classification of branchial cleft anomalies (BCAs) have been subjects of controversy for decades. The purpose of this study was to investigate the accuracy of current developmental theories (congenital, lymph node, and hybrid branchial inclusion theories) in defining the anatomic and histopathological characteristics of BCAs. Ninety consecutive patients with BCAs who underwent surgical excision were enrolled in this 2-center retrospective cohort study. The present study included 90 patients: 46 (51.11%) women and 44 (48.89%) men (P > .05). The mean age at presentation was 31.89±17.31 years. Altogether, 92 BCAs were identified within the study population including 49 (53.26%) on the left side and 43 (46.74%) on the right side (P > .05). The BCAs included 79 (85.87%) branchial cleft cysts, 11 (11.96%) branchial cleft sinuses, and 2 (2.17%) branchial cleft fistulae. Three (3.26%) BCAs were distributed in the head regions, 88 (95.65%) in the neck regions, and 1 (1.09%) in the thoracic cavity. Following surgery, lymphoepithelial tissue was detected in the histopathological examination in 83 (90.22%) BCAs. The hybrid branchial inclusion theory exhibited significantly higher accuracy in defining patho-anatomic characteristics of BCAs than the branchial apparatus, precervical sinus, thymopharyngeal, and inclusion theories (90.22, 9.78, 2.17, 0.00, and 0.00%; respectively) (P < .05). The novel branchial node (BN) classification system based on the hybrid branchial inclusion theory appears to be superior to other classification systems in determining the patho-anatomy of BCAs.

English

BACKGROUND A new-born baby having a cleft lip alone or a cleft lip with cleft palate is definitely painful to the parents. Such cases must be referred to a multi-disciplinary medical team having expertise in craniofacial defects. The role of a family doctor is significant in these cases as he / she is the one who can minimize the sufferings of the parents and their family members by ensuring antenatal diagnosis and extending support for the whole family post-diagnosis, during initial days of breastfeeding as well as bonding issues and also throughout an extended period of months and years of surgical interventions and speech therapies. These cleft lip and palate deformities are the most typical facial defects in children at birth. This leads to not only the altered appearance, defective speech, improper hearing, retarded growth of the baby but also deranged psychosocial well-being and disrupted social integration of the parents and family members. This article presents an overall epidemiological aspect of the said anomalies in the immense interest &amp; benefit of all the concerned professionals. Patients with cleft lip or palate have significant problems in communication, and face difficulties with deglutition. The understanding of the anatomy and associated pathophysiology play a vital role in the management of these patients. The surgical correction remains the mainstay of treatment to date. This article describes common problems related to kids having cleft lip and palate anomalies and provides the latest surgical options available in such congenital cleft care. The genetic basis of the disease and recent advances in the developmental defects of this congenital abnormality is also discussed. In addition to physical corrections, psychological effects on the family need to be addressed at priority. The treating physician must consider the mental health of the parents. The current concepts of treatment will continue to evolve because of continuous developments in the fields of foetal surgery, genetic and tissue engineering. KEY WORDS Cleft, Lip, Palate, Aperture, Folic Acid, Congenital, Abnormality, Orofacial, Correction, Surgery

Association between habitual snoring, middle ear disease, and speech problems in young children with non-syndromic cleft palate anomalies

The purpose of this study was to investigate the association between habitual snoring (HS), middle ear disease (MED), and speech problems in children with cleft palate. This cross-sectional study included children aged 2.0–7.9 years with non-syndromic cleft palate anomalies. Parents completed the Pediatric Sleep Questionnaire and a questionnaire about MED. Audiograms and speech assessment were also conducted. Ninety-five children were enrolled; 15.2% of families reported HS, 97.6% MED, and 17.1% speech problems. HS (37.5% vs 10.3%, P = 0.007) and early episodes of MED (92.3% vs 58.2%, P = 0.021) were more likely to be reported for children with isolated cleft palate when compared to those with cleft lip and palate. Children with cleft lip and palate had a higher frequency of MED with effusion compared to those with Robin sequence (86.4% vs 57.1%, P = 0.049). The odds ratio for HS in children with ≥1 episode of MED in the last year was 7.37 (95% confidence interval 1.55–35.15, P = 0.012). There was a trend for children with speech problems reported by parents to have HS (30.8% vs 11.5%, P= 0.076). Anatomical factors play a role in the frequency of upper airway symptoms in children with cleft palate. A recent history of at least one episode of MED was associated with an increased frequency of HS.

Unusual presentation of a first branchial arch fistula with maxillofacial infection: a case report

BackgroundFirst branchial cleft anomaly (FBCA) is a rare congenital defect that arises due to incomplete closure of the ventral portion of the first and second branchial arches. There are variable complex clinical manifestations for patients with FBCA, which are prone to misdiagnosis and inadequate treatment. FBCAs usually involve the facial nerve with a consequent increased risk of facial nerve damage. Here, we present an unusual case of FBCA presenting with two preauricular pits in association with an abnormal maxillofacial cyst.Case presentationA 10-month-old girl presented to our department due to recurrent maxillofacial infections accompanied by swelling or abscess of the left cheek and purulent discharge from the preauricular pit for 4 months. A 3D-computed tomography (CT) fistulogram and magnetic resonance imaging (MRI) revealed two conjunctive tract lesions: one tract arose from the skin surface anteroinferior to the external auditory canal (EAC), through the deep lobe of the left parotid, and anteriorly extended to the left masseter; the other extended from the superficial lobe of the left parotid to the intertragic notch. After the maxillofacial infection was controlled by intravenous antibiotic administration, surgery was performed. Intraoperative tools, such as facial nerve monitors, microscopes, and methylene blue dyes, were used to facilitate the complete dissection and protection of the facial nerve. On follow-up over one year, the patient recovered well without facial palsy or recurrence.ConclusionFBCA with maxillofacial cysts is rare and prone to misdiagnosis. Physicians should pay attention to this anatomic variant of FBCA with the fistula track located deep inside the facial nerve and projected medially to the masseter.

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.

ABSTRACTImportanceFirst branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level.ObjectiveTo identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.MethodsWe performed whole‐exome sequencing of samples from 10 pediatric patients with FBCAs. Data analysis was carried out using the Burrow‐Wheeler Alignment software package, and the dbSNP database for comparisons. Rare variants were further validated by Sanger sequencing. Insertion/deletions (indels) were examined using the Genome Analysis Toolkit.ResultsWe identified 14 non‐synonymous mutations in seven potential FBCA‐susceptibility genes (TRAPPC12, NRP2, NPNT, SH3RF2, RHPN1, TENM4, and ARMCX4). We also detected 133 shared small indels in 125 genes. Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.InterpretationWe characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA. The results identified potential pathogenic genes and mutations related to FBCA, and provide molecular‐level support for the branchial theory of FBCA pathogenesis.

Complicated retroauricular fistula with external ear major dysgenesis. A case report

Branchial cleft anomalies are the second most common congenital head and neck lesions in children. The first congenital head and neck lesion is thyroglossal duct cysts. First branchial cleft anomalies are rare congenital head and neck malformations (8 % of branchial cleft anomalies). The initial clinical manifestation was recurrent infections and/ or discharge in auricular, periauricular, parotid or upper neck regions. These anomalies are extremely rare and other associated facial malformations were described. The computed tomography and magnetic resonance can help the diagnosis. The antibiotic treatment is indicated in acute infection. Also, incision and drainage are recommended in abscessed processes. In this report, we present a case of retroauricular sinus infection in a 6-year-old child with congenital ear anomalies.

Unusual case of congenital fistula between external auditory canal and nasopharynx

&lt;p class="abstract"&gt;Defects in the development in the neck area of the embryo result in branchial cleft anomalies. Various first branchial cleft anomalies are described in literature including preauricular sinuses, cysts and collaural fistula. In our case study, we document a very unusual case of fistula between floor of external auditory canal and nasopharynx. Such patient requires thorough evaluation and step-wise approach to treat. After clinical examination and radiological evaluation, surgically the fistula was excised in toto via external approach using Modified Blair’s incision. In our case, fistulous tract was running from external auditory canal to nasopharynx, running superior and medial to the trunk of facial nerve. No such case is found to be reported in literature after extensive search. Hence, it would be strongly advocated to keep this presentation in the differential diagnosis during evaluation. Also, it is worth mentioning and recommending that a careful radiological examination is a must before approaching for surgery.&lt;/p&gt;

Orofacial clefts associated with cardiac anomalies

AIMS: Orofacial clefts (OFC) are a heterogeneous group of birth defects arising in about 1.7/1000 newborns. They can occur with other congenital anomalies, including heart defects. We aim to describe a population with orofacial clefts and associated cardiac anomalies.METHODS: Retrospective study of patients attended in the Cleft Lip and Palate Multidisciplinary Group outpatient clinic at Hospital Universitario São João, Porto-Portugal. Medical records from January 1992 through December 2018 were reviewed. Patients were divided into four groups according to the Spina classification: cleft lip (CL), cleft lip and palate (CLP), isolated cleft palate (CP) and atypical cleft (AC). Further categorization included gender, affected relatives, associated congenital anomalies and syndromes.RESULTS: From the 588 patients included, 77 (13%) presented cardiac anomalies. Of those with orofacial cleft and cardiac anomalies, 53% were males and 17% had known affected relatives. CP was the most common cleft among patients with cardiac anomaly (~56%). Additional congenital anomalies were found in 89.7% of patients, namely facial defects, central nervous system, renal and skeletal malformations. A recognizable syndrome was identified in 61.5%, being Pierre-Robin the most common (n=22), followed by 22q11.2 microdeletion (n=9). Both additional congenital anomalies and recognizable syndromes were significantly more prevalent in patients with heart disease (p&lt;0.05). The main groups of cardiac anomalies were left-to-right shunt (n=47) and right ventricular outflow tract obstruction (n=14). From these, 26 had a ventricular septal defect, 15 atrial septal defect and seven patients had tetralogy of Fallot. Five patients had dysrhythmias.CONCLUSIONS: Due to the high prevalence of cardiac anomalies in the cleft population, a routine cardiac evaluation should be performed in all these patients.

Skin hypopigmentation line of branchial cleft anomaly.

Skin hypopigmentation line of branchial cleft anomaly.

Variations in Orofacial Clefts.

The main objective of this study was to report the prevalence and other relative risk factors of oral clefts among newborn infants. In this study, we reviewed the data regarding 234 infants with cleft anomalies as collected in questionnaires from 2004 to 2019 and demographic parameters were assessed. Cleft lip and palate was the most common anomaly (66.7%), followed by isolated cleft palate (28.2%), isolated cleft lip (3.8%), and cleft lip and alveolus (1.3%). The study also showed that 54.3% of all cleft patients were boys and 45.7% were girls (with a rate of 1.18) and the difference between both sexes was significant (P-value = 0.010). In addition, cleft lip and palate was more common in males and isolated cleft palate was seen more in girls (P-value = 0.002, P-value = 0.001, respectively). The parents (56.4%) had consanguinity and 20% of them had a history of cleft in their family. Cleft lip and palate in boys and cleft palate in girls was more common. Parents' consanguinity and history of cleft in their family are also important factors to consider. Further studies on cleft anomalies along with or without genetic factors are required.

Unusual location of a second branchial cleft cyst presenting in the suprasternal notch

Second branchial cleft cysts (SBCCs) are congenital benign tumors that comprise up to 90% of all branchial cleft anomalies. SBCCs typically present in the lateral neck along the anterior border of the upper third of the sternocleidomastoid muscle. We describe a case of a SBCC presenting in an unusual location in the lower neck close to midline. An 18-year-old male presented with a 2-year history of a neck mass in the suprasternal notch. Imaging findings were reviewed with a head and neck radiologist who felt that the findings were highly suggestive of a fourth branchial cleft cyst. The patient underwent surgical excision of the mass. Final pathologic evaluation confirmed the diagnosis of a second branchial cleft cyst. Though extremely uncommon, second branchial cleft cysts can extend to the suprasternal notch and should not be excluded from the differential diagnoses of lower neck masses.

Branchial cleft anomalies: hybrid "Branchial Inclusion" theory.

Branchial cleft anomalies (BCAs) are developmental malformations of the head and neck region. Their histogenesis has been the subject of controversy and is not fully understood. This study aimed to test all present developmental theories ("branchial apparatus," "precervical sinus," "thymopharyngeal," and "inclusion" theories) on a sample of 48 BCAs from a single institution. We performed a retrospective analysis of clinical-epidemiological and anatomical-pathological characteristics of BCAs treated over a 12-year period in our hospital. Overall, 46 patients (24 [52.17%] women and 22 men [47.83%]) underwent surgical excision of 48 BCAs. The mean patient age at presentation was 31.65 ± 19.40years. Branchial cleft cysts were found in 42 (87.50%) cases, and branchial cleft sinuses were found in six (12.50%) cases. Eight (16.67%) BCAs were distributed in the preauricular region, 34 (70.83%) at the anterior border of the sternocleidomastoid muscle (SCM), three (6.25%) at the posterior border of the SCM, two (4.17%) in the suprasternal notch, and one (2.08%) in the retrosternal space. Histopathologically, 39 (81.25%) BCAs had a lymphoepithelial structure and nine (18.75%) BCAs had solitary epithelial cells. Inflammation and infection were observed in 24 (50%) and 12 (25%) cases, respectively. None of the hypothesized developmental theories fully explain the embryonic origin of BCA in our study sample. A possible explanation of BCA histogenesis is through the hybrid "branchial inclusion" theory.

Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report

Cryptophthalmos syndrome or Fraser syndrome is a rare autosomal recessive disorder, characterized by major features such as cryptophthalmos, cutaneous syndactyly, malformation of the larynx, abnormal genitalia, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. It is inherited in an autosomal recessive pattern where both the parents must be possessing one defective allele for Fraser syndrome. Since both the parents are carriers for the Fraser syndrome, there is a chance for 25% of their children being affected, 50% of their children to be carriers and 25% of their children to be normal. A 22 year old pregnant woman with a family history of third degree consanguineous marriage was diagnosed to have a fetus with many of the above findings in her anomaly scan which was done to manage child birth and as it is crucial to get prenatal diagnosis early in the pregnancy. Parents decided to terminate the pregnancy. Soon after the abortus was expelled, cord blood was collected and subjected to Karyotype test. Karyotype analysis revealed the absence of a short sequence on chromosome number 4 in q arm at 4q21 region, which may be responsible for the above mentioned deformities. Due to the high morbidity and mortality associated with Fraser syndrome, early detection by amniotic fluid karyotyping may be helpful in early intervention.

Branchial Cleft Anomalies in Children

INTRODUCTION: Objective: A retrospective study was planned to evaluate the clinical and radiological findings of childhood branchial anomalies together with the subclasses of the anomaly and to discuss the surgical results. Method: The medical records of the patients managed for branchial cleft anomaly between 2014 and 2019 were examined. Demographic features, clinical and radiological findings, surgical managements and outcomes were recorded. Results: Eighteen cases were included in the study. Median age of the cases was 5 years (1-14). Male/female ratio was 9/9. The complaints were discharge from the BC (n=13, 72%) and painless neck mass (n=3, 17%). The BC was at right side in 8 (44%), left side in 9 (%50) and bilateral in 1 case (6%). Physical examination revealed the presence of a fistula, and its orifice in 14 cases and cystic lesion was palpable in 4 cases. Ultrasound was performed in 9 cases (50%) and cyst could be detected in 3 of them. All cases were operated and step-ladder incision was used in 8 cases. The fistula tract was ended near to pharynx in 2, near to pretonsillar fossa in 10, submandibular region in 5, and external auditory tract in 1 case. Histopathological examination revealed inflammation in 2 cases and cartilage in 1 case. Stratified ciliary columnar and stratified squamous cell epithelium was detected in samples. Conclusion: Physical examination is the most important diagnostic method. The management is surgery and excision of whole lesion is important in preventing recurrences. Although using methylene blue is a guiding technique in surgical excision of tracts, the effect of its use on surgical outcome and recurrence rates is still debatable.

Collaural fistula (Work Type II first branchial cleft anomaly) with prolonged morbidity: A case report

Collaural fistula is a very rare Work Type II first branchial cleft anomaly in which there is a complete fistulous tract between external auditory canal and the neck. Misdiagnosis and mismanagement can lead to prolonged morbidity and complications due to repeated infections. We present a case of an 18-year-old lady with a recurrent discharging sinus on her neck for 4 years. She has been treated with repeated incision and drainage and multiple antibiotics in the past. Otoscopic examination revealed an opening on the floor of the left external auditory canal. A diagnosis of an infected collaural fistula was made. Complete excision of the fistulous tract was done after treatment of the active infection. On follow-up, there was no further recurrence at 1 year. Sound knowledge of embryology of branchial anomalies with good history and examination is important to make correct and early diagnosis to prevent morbidity.

Incidence of Symptomatic Submucous Cleft Palate in the Netherlands: A Retrospective Cohort Study Over a Period of 22 Years.

Objective:To analyze the incidence of submucous cleft palate (SMCP) in a large national database and raise awareness among referring providers: pediatricians, speech pathologists, and dentists to minimize delay in diagnosis.Design:Retrospective cohort study.Setting:Tertiary setting.Patients:Patients were extracted from the “Dutch Association for Cleft and Craniofacial Anomalies” database. A total of 6916 patients were included from 1997 until 2018 and divided into 2 groups (ie, SMCP versus cleft palate [CP]). Patients born before 1997 and adopted patients were excluded.Interventions:Clefts were classified as either hard of soft palatal involvement based on anatomical landmarks at first consultation.Main Outcome Measures:Primary outcomes were the patient characteristics in both groups (ie, gender, birth weight, gestational age, and additional anomalies). Secondary outcome was the time of diagnosis among subgroups.Results:In total, 532 patients were diagnosed with SMCP (7.7%). Birth weight, gestational age, and additional anomalies did not differ between subgroups, but there were more males in the SMCP group (P < .001). The median age of diagnosis of the SMCP group was significantly higher than of the CP group (987 vs 27 days; P < .001). Over the course of 22 years, the time of diagnosis for SMCP did not decrease.Conclusion:Submucous cleft palate represents <10% of the Dutch cleft population and 19.4% of all CP. Time of diagnosis for SMCP is significantly longer when compared with time of diagnosis of CP, and this has not changed over the study period of 22 years.

Congenital Neck Masses.

Congenital neck masses (CNMs) are developmental malformations that present with a wide spectrum of clinical symptoms and signs. They account for 21% to 45% of neck masses in children and 5% to 14% in adults. This study aimed to present the clinical manifestations and treatment of CNM from single-institution experiences. A retrospective analysis of patients surgically treated for CNM in a 12-year period was performed. Altogether, 117 patients (female/male ratio, 1:1.05) were diagnosed with CNM. The mean age at presentation was 26.91 years (range, 0.01-84 years). Within the study population, 120 CNMs were identified: 52 (43.33%) thyroglossal duct remnants, 48 (40.00%) branchial cleft anomalies, 7 (5.83%) epidermoid/dermoid cysts, 4 (3.33%) hemangiomas, 3 (2.50%) lymphangiomas, 1 (0.83%) hemangiolymphangioma, 1 (0.83%) hemangioendothelioma, 1 (0.83%) internal laryngocele, 1 (0.83%) external laryngocele, 1 (0.83%) ectopic thyroid gland, and 1 (0.83%) parathyroid cyst. The lateral neck region was the most frequently affected anatomical site, followed by the midline neck location and mediastinum (54%, 45%, and 1%, respectively). Surgical excision was performed in all cases. Recurrence was recorded in 5 (4.17%) patients. The results of this study provide comprehensive information regarding the clinical spectrum of CNM. Successful management of these lesions depends on a thorough understanding of neck embryology and anatomy. Misdiagnosis and improper treatment increase the morbidity and recurrence rate of CNM.

The Tale of the Unrepaired Cleft-Retrospective Evaluation of Cases Encountered by an Indigenous Mission in a Northern Nigerian Community.

This study aims to document the experience of an indigenous surgical mission on the occurrence of unrepaired cleft in 2 visits to Minna, North-Central Nigeria. This retrospective study involved participants with orofacial cleft anomaly at 2 surgical outreaches held in Minna in 2011 and 2017. Baseline data were initially obtained from case files of patients at both programs. Data collected were analyzed employing appropriate statistical tests for continuous and categorical variables. Two outreach programs in Minna, North-Central Nigeria by Cleft and Facial Deformity Foundation in 2011 and 2017. A total of 117 participants with cleft anomaly were encountered at both surgical outreach programs. The sample prevalence of unrepaired cleft was 61.5% with an overall mean age (standard deviation) of 10 (13.2) years. Most participants presented with unilateral complete cleft lip (70.8%) which was more common on the left side and had no family history of orofacial cleft (54.2%). Information on the surgical program was mostly obtained via friends and relatives in 32.6% and lack of wherewithal to offset the expense of cleft surgery and supportive treatment represented the most common reason for the delay of surgical repair (50%). We found a high proportion of patients with unrepaired cleft in our sample which may mirror happenings in other developing world centers. We advocate continued collaborations between indigenous missions and international funding agencies to further encourage continued repair of unrepaired cleft in developing centers.