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First branchial anomaly

Estelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, Sandrine Marlin, Annick Toutain, Françoise Denoyelle, Arnaud Picard, Sabine Charron, Guilaine Mathieu, Harmony de Belvalet, Benoit Arveiler, Patrick J Babin, Didier Lacombe, Caroline Rooryck
BACKGROUND: Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformations. Although numerous chromosomal abnormalities have been associated with OAVS, no causative gene has been identified so far. OBJECTIVES: We aimed to identify the first causative gene for OAVS. METHODS: As sporadic cases are mostly described in Goldenhar syndrome, we have performed whole exome sequencing (WES) on selected affected individuals and their unaffected parents, looking for de novo mutations...
June 29, 2016: Journal of Medical Genetics
Noriko Funato, Hiroki Kokubo, Masataka Nakamura, Hiromi Yanagisawa, Yumiko Saga
Acquisition of the lower jaw (mandible) was evolutionarily important for jawed vertebrates. In humans, syndromic craniofacial malformations often accompany jaw anomalies. The basic helix-loop-helix transcription factor Hand2, which is conserved among jawed vertebrates, is expressed in the neural crest in the mandibular process but not in the maxillary process of the first branchial arch. Here, we provide evidence that Hand2 is sufficient for upper jaw (maxilla)-to-mandible transformation by regulating the expression of homeobox transcription factors in mice...
2016: Scientific Reports
Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Arvind Kumar, Rakesh Kumar
Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients...
May 8, 2016: World Journal of Clinical Pediatrics
Gláucia Aparecida Menezes, Edward Araujo Júnior, Jorge Lopes, Simone Belmonte, Gabriele Tonni, Heron Werner
Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly...
August 2016: Journal of Obstetrics and Gynaecology Research
Lourdes Quintanilla-Dieck, Frank Virgin, Chistopher Wootten, Steven Goudy, Edward Penn
Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed...
2016: Case Reports in Otolaryngology
Michela Piccioni, Marco Bottazzoli, Nader Nassif, Stefania Stefini, Piero Nicolai
OBJECTIVES/HYPOTHESIS: We present a new method of optimizing the results of surgery for branchial cleft anomalies based on the intraoperative injection of fibrin glue combined with methylene blue dye. STUDY DESIGN: Retrospective single-center cohort study. METHODS: The method was applied in 17 patients suffering from branchial anomalies. Six (35.29%) had a preauricular lesion; three (17.65%) had lesions derived from the first arch/pouch/groove (type I), four (23...
September 2016: Laryngoscope
Magda H A Nasreldin, Eman A Ibrahim, Somaia A Saad El-Din
Branchial pouch-derived anomalies may arise from remnants of the first, second, or third/fourth branchial arches. Branchial pouch-related structures are found within the thyroid gland in the form of solid cell rests, epithelial lined cyst with or without an associated lymphoid component, thymic and/or parathyroid tissue, and less commonly in the form of heterotopic cartilage. We present a rare case of left solid thyroid swelling nearby two cervical nodules in a seven-year-old female with a clinical diagnosis suggestive of malignant thyroid tumor with metastasis to the cervical lymph nodes...
2016: Clinical Medicine Insights. Pathology
U D Shrestha, S Adhikari
Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM...
2015: Case Reports in Ophthalmological Medicine
R Bozatlıoğlu, A P Münevveroğlu
Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis. These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, cleft palate, ear anomalies, hypoplastic thumb, short forearm, proximal radioulnar synostosis, atrial septal defect, lower limb deformities, and flat nasal bridge...
2015: Case Reports in Dentistry
C Spinelli, L Rossi, S Strambi, J Piscioneri, G Natale, A Bertocchini, A Messineo
BACKGROUND AND AIMS: Branchial abnormalities occur when there is disturbance in the maturation of the branchial apparatus during fetal development. Branchial anomalies are congenital lesions usually present in childhood, even if they can be diagnosed later for enlargement or infection. A correct diagnosis will lead to proper management: complete surgical excision is the treatment of choice. The purpose of this article is to present clinical features, diagnostic methods and surgical treatment of branchial anomalies in childhood, based on a series of 50 patients...
May 2016: Journal of Endocrinological Investigation
Aisha Larem, Rashid Sheikh, Abdulsalam Al Qahtani, Frat Khais, Shanmugam Ganesan, Hassan Haidar
We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted...
September 15, 2015: Laryngoscope
Gary D Josephson, Kaelan Black
OBJECTIVES: Literature review of treating the piriform apex sinus tract through microlaryngoscopy and a case description. REVIEW METHODS: Fourteen papers were identified in PubMed using the search criteria of piriform sinus fistula, microlaryngoscopic repair, and endoscopy. Institutional Review Board approval was obtained. RESULTS: One hundred forty-five cases including ours were available for review, with 182 procedures. Sixty-two cases were male, 73 female, and 10 genders were not reported...
December 2015: Annals of Otology, Rhinology, and Laryngology
Mara Marongiu, Loredana Marcia, Emanuele Pelosi, Mario Lovicu, Manila Deiana, Yonqing Zhang, Alessandro Puddu, Angela Loi, Manuela Uda, Antonino Forabosco, David Schlessinger, Laura Crisponi
BACKGROUND: Haploinsufficiency of the FOXL2 transcription factor in humans causes Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES), characterized by eyelid anomalies and premature ovarian failure. Mice lacking Foxl2 recapitulate human eyelid/forehead defects and undergo female gonadal dysgenesis. We report here that mice lacking Foxl2 also show defects in postnatal growth and embryonic bone and cartilage formation. METHODS: Foxl2 (-/-) male mice at different stages of development have been characterized and compared to wild type...
2015: BMC Developmental Biology
Neville Wei Yang Teo, Shahrul Izham Ibrahim, Kun Kiaang Henry Tan
INTRODUCTION: The objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies. METHODS: This was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results...
April 2015: Singapore Medical Journal
Sreevalli Suryadeva, Mohammadi Begum Khan
In oral cavity, disturbances due to genetic alterations may range from lack of tooth development to morphological defects. Due to technical advances in genetic engineering and molecular biology, valuable information regarding dentofacial growth could be studied in detailed manner. This helped us to explain the aetiology and pathogenesis of many dentofacial disorders. The success in treatment lies first in determining the aetiology of tooth anomalies and finally differentiating the effect of genes and environment on the orofacial diseases of that particular individual...
February 2015: Journal of Clinical and Diagnostic Research: JCDR
Dinesh Singh Chauhan, Yadavalli Guruprasad
Tessier's 7 cleft or lateral facial cleft are unusual lesions that result from failure of the embryonic mandibular and maxillary process of the first branchial arch to fuse properly and form the corners of the mouth. It may be seen alone or in combination with other anomalies, accompanied by varying degrees of severity. We report an extremely rare case of bilateral Tessier's 7 cleft along with maxillary duplication, macrostomia, bilateral posterior maxillary cleft, and mandibular retrusion in an 18-year-old male patient...
March 2015: Journal of Maxillofacial and Oral Surgery
Dinesh Singh Chauhan, Yadavalli Guruprasad
Goldenhar syndrome, a variant of hemifacial microsomia, is a well-known developmental anomaly of maxillofacial skeleton that is apparent at birth. The first and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that may include macrostomia and lateral facial clefts. Though clefts of the orofacial region are among the most common congenital facial defects, the occurrence of lateral facial clefts (Tessier 7 cleft) in conditions such as the Goldenhar syndrome, is very rare (<5%)...
March 2015: Journal of Maxillofacial and Oral Surgery
Richard Schmidt, David Conrad, Erin Field, Robert O'Reilly
First branchial cleft anomalies are uncommon lesions that often present as periauricular infections. They have high recurrence rates, due in part to scarring secondary to prior infections and their management. These lesions have a close relationship with the facial nerve, and most authors recommend its identification and dissection because of this relationship. Nonetheless, facial nerve palsy has been reported in up to 15% of cases. We describe a novel technique for the management of first branchial cleft anomalies...
June 2015: Otolaryngology—Head and Neck Surgery
Daisuke Kamide, Masayuki Tomifuji, Mayuka Maeda, Kazuho Utsunomiya, Taku Yamashita, Koji Araki, Akihiro Shiotani
Pyriform sinus fistula is a rare branchial anomaly that manifests as recurrent cervical infection resulting from contamination of the fistula internal orifice in the pyriform sinus. Although open neck surgery to resect the fistula has been recommended as a definitive treatment, identifying the fistula within the scar is difficult and occasionally results in recurrence. Here, we describe a novel transoral surgical technique for pyriform sinus fistula using transoral videolaryngoscopic surgery (TOVS) as a definitive treatment to resect and close the fistula without skin incision...
July 2015: American Journal of Otolaryngology
Hesham Mostafa Abdelfattah, Mohammed Elrabie Ahmed, Mona El-Rabie Ahmed, Mohamed Abd El-Kader Ahmed, Abd-Elmateen Moussa
Pyriform sinus malformations represent rare third and fourth branchial anomalies. Fistulae at the latter site were initially described and make up less than 1 % of all brachial anomalies. They may be discovered incidentally, or may present as a neck mass with recurrent infection, dysphagia, or airway compromise, and can be an unusual cause of dysphonia in infant and children. Here, we present a case of third branchial cyst located in pharyngeal wall of the left pyriform sinus which presented with dysphonia since birth in a 6-year-old girl...
February 2016: European Archives of Oto-rhino-laryngology
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