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https://www.readbyqxmd.com/read/28214971/complete-occipitalization-of-the-atlas-with-bilateral-external-auditory-canal-atresia
#1
Janez Dolenšek, Erika Cvetko, Žiga Snoj, Marija Meznaric
Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation...
February 18, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28198774/a-new-classification-of-helix-fabrication-methods-with-autogenous-costal-cartilage-in-microtia-reconstruction
#2
Zhicheng Xu, Feng Xu, Ruhong Zhang, Qun Zhang, Datao Li, Yiyuan Li
BACKGROUND: The complex architecture of the auricle poses one of the most demanding challenges for the plastic surgeon to recreate. The fabrication of the prominent helix is crucial to the final contour of the constructed ear. The success of helix carving depends greatly on the complicated characteristics of the cartilage used, which is commonly the eighth costal cartilage. The authors elaborate on the relevant details for helix sculpting based on different qualities of cartilage. METHODS: A series of 415 microtia patients underwent autogenous costal cartilage auricular reconstruction between 2012 and 2015...
February 13, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28198391/mcm5-a-new-actor-in-the-link-between-dna-replication-and-meier-gorlin-syndrome
#3
Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, Cristina Cerqua, Geppo Sartori, Ivan Limongelli, Antonella Forlino, Silvia Maruelli, Paola Perucca, Debora Vergani, Giuliano Mazzini, Andrea Mattevi, Lucia Anna Stivala, Leonardo Salviati, Orsetta Zuffardi
Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recessive mutations in ORC1, ORC4, ORC6, CDT1, CDC6, and CDC45, encoding members of the pre-replication (pre-RC) and pre-initiation (pre-IC) complexes, and heterozygous mutations in GMNN, a regulator of cell-cycle progression and DNA replication, have already been associated with this condition. We performed whole-exome sequencing (WES) in a patient with a clinical diagnosis of MGORS and identified biallelic variants in MCM5...
February 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28186598/-a-boy-with-meier-gorlin-syndrome-carrying-a-novel-orc6-mutation-and-uniparental-disomy-of-chromosome-16
#4
Juan Li, Yu Ding, Guoying Chang, Qing Cheng, Xin Li, Jian Wang, Xiumin Wang, Yiping Shen
OBJECTIVE: To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). METHODS: Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. RESULTS: The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28137637/combining-virtual-surgical-planning-intraoperative-navigation-and-3-dimensional-printing-in-prosthetic-based-bilateral-microtia-reconstruction
#5
Jason M Weissler, Michael Sosin, Amir H Dorafshar, Juan R Garcia
Reconstructing auricular deformities for bilateral microtia is a demanding challenge especially after failed autologous reconstruction. This case report presents a novel application of virtual surgical planning, computer-assisted design, and intraoperative surgical navigation to preplan and execute placement of custom-tailored silicone auricular prostheses and titanium osseointegrated implants for a bone-anchored hearing aid system in a patient with Treacher Collins syndrome in whom autologous reconstruction had previously failed...
January 4, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28127502/anatomical-variants-of-the-superficial-temporal-artery-in-patients-with-microtia-a-pilot-descriptive-study
#6
Farrah-Hani Imran, Chong Kong Yong, Srijit Das, Yap Lok Huei
Superficial temporal artery (STA) based pedicled fascial flap plays a pivotal role in ear reconstruction for microtia patients. There is paucity of literature on the anatomy of the STA in microtia patients. The present study aimed to describe any possible anatomical variations seen in the STA of patients afflicted with microtia. Pre-operative carotid computer tomographic angiography images of patients under the microtia database of Plastic and Reconstructive Surgery Unit at a tertiary medical centre were selected and 3-dimensionally reconstructed...
December 2016: Anatomy & Cell Biology
https://www.readbyqxmd.com/read/28125324/chorda-tympani-nerve-dysfunction-associated-with-congenital-microtia
#7
Kenichi Takano, Nozomi Takahashi, Noriko Ogasawara, Takatoshi Yotsuyanagi, Tetsuo Himi
CONCLUSION: This is the first report to investigate the correlation between ear anomalies related to the development of specific ear structures and chorda tympani dysfunction (CTD) in congenital microtia. CTD is not always consistent with the severity of the ear anomaly or the presence of facial nerve paralysis (FNP). OBJECTIVES: To investigate the relationship between the severity of ear anomalies and CTD as well as FNP in congenital microtia. METHODS: A retrospective assessment was performed for all patients with microtia over the period 2010-2016...
January 26, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28118186/microtia-and-social-media-patient-versus-physician-perspective-of-quality-of-information
#8
Sarvnaz Sepehripour, Ann Louise McDermott, Mark Sheldon Lloyd
INTRODUCTION: Previous research demonstrates that patients seek high-quality information on the World Wide Web, especially in rare conditions such as microtia. Social media has overtaken other sources of patient information but quality remains untested. This study quantifies the quality of information for patients with Microtia on social media compared with nonsocial media websites and compares physician and patient scoring on quality using the DISCERN tool. METHODS: In phase 1, quality of the top 100 websites featuring information "Microtia" was ranked according to quality score and position on Google showing the position of social media websites among other nonsocial media websites...
January 23, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28109504/mutational-analysis-of-gsc-hoxa2-and-prkra-in-106-chinese-patients-with-microtia
#9
Shaojuan Hao, Lei Jin, Chenlong Li, Huijun Wang, Fengyun Zheng, Duan Ma, Tianyu Zhang
OBJECTIVE: Microtia is defined as a developmental malformation characterized by a small, abnormal shaped auricle, with atresia or stenosis of the auditory canal. Genes responsible for nonsyndromic microtia have remained elusive. We therefore report a mutational analysis of GSC, HOXA2 and PRKRA in 106 congenital microtia patients without any combined malformation to explore the relationship between GSC, HOXA2, PRKRA and nonsyndromic microtia. METHODS: A total of 106 patients with a clinical diagnosis of congenital microtia and a control group (100 unaffected controls) were recruited through the Eye and ENT Hospital of Fudan University in China...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28099268/vascular-nature-and-existence-of-anastomoses-of-extrinsic-postauricular-fascia-application-for-staged-auricular-reconstruction
#10
Suphalerk Lohasammakul, Chairat Turbpaiboon, Supin Chompoopong, Rosarin Ratanalekha, Chongdee Aojanepong
A staged auricular reconstruction in microtia patients was developed by using superficial mastoid fascia (as part of extrinsic postauricular fascia) to cover the cartilagenous framework due to its highly vascularized nature. Three branches of external carotid artery (superficial temporal artery, posterior auricular artery and occipital artery) were found to supply this fascia, this study was therefore aimed to investigate the dimension of blood supply from each vessel and also to demonstrate the existence of anastomoses among these arteries...
January 18, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28041938/patient-reported-outcome-measures-in-microtia-surgery
#11
REVIEW
Farhana Akter, Joanna C Mennie, Ken Stewart, Neil Bulstrode
BACKGROUND: Autologous ear reconstruction for microtia is a complex, multi-stage procedure. The success of the procedure is dependant on how the patient perceives the outcomes of surgery and their overall experience. Patient reported measures are therefore crucial to developing the technique and improving the patient journey. AIM: The aim of this study was to use two reproducible patient reported outcome tools as an objective measure of microtia reconstructive surgery...
November 23, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28032165/an-alternative-posterosuperior-auricular-fascia-flap-for-ear-elevation-during-microtia-reconstruction
#12
Yiyuan Li, Ruhong Zhang, Qun Zhang, Zhicheng Xu, Feng Xu, Datao Li
BACKGROUND: Advances in staged total auricular reconstruction have resulted in improved anterior auricular appearance; however, satisfactory postreconstruction esthetics of the retroauricular fold remain challenging. The postauricular appearance of the reconstructed ear depends largely upon optimizing the covering material. When used as the covering soft tissue for ear elevation, a flap containing primarily the upper portion of the retroauricular fascia has potential advantages over the conventional book cover-type retroauricular fascia flap...
December 28, 2016: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28031155/an-implantable-hearing-system-as-rehabilitation-for-hearing-loss-due-to-bilateral-aural-atresia-surgical-technique-and-audiological-results
#13
Rubens de Brito, Luzia Maria Pozzobom Ventura, José Carlos Jorge, Eduardo Boaventura Oliveira, Luiz Fernando Manzoni Lourencone
OBJECTIVE: To demonstrate the surgical technique and audiological results of a middle ear implant for restoring hearing in patients with bilateral aural atresia and microtia with conductive or mixed hearing loss. MATERIALS AND METHODS: In this prospective study, 12 subjects aged 12 years and older presenting with hearing loss and bilateral congenital aural atresia underwent surgical insertion of a middle ear implant. The patients underwent tympanomastoidectomy with a wide opening of the attic and preservation of the roof of the atresic tympanic bone to expose the middle ear and position the floating mass transducer of the implant...
December 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28018436/chromosome-11q13-deletion-syndrome
#14
Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28002245/a-temporoparietal-fascia-pocket-method-in-elevation-of-reconstructed-auricle-for-microtia
#15
Takashi Kurabayashi, Hirotaka Asato, Yasutoshi Suzuki, Nobuyuki Kaji, Yoko Mitoma
BACKGROUND: In the two-stage procedures for the reconstruction of microtia, an axial flap of temporoparietal fascia (TPF) is widely used to cover the costal cartilage blocks placed behind the framework. Although a TPF flap is undoubtedly reliable, use of the flap has some morbidity and comes at the expense of the option for salvage surgery. METHODS: The authors devised a simplified procedure for covering the cartilage blocks by creating a pocket in the postauricular TPF...
December 19, 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28001100/content-validity-of-patient-reported-outcome-instruments-used-with-pediatric-patients-with-facial-differences-a-systematic-review
#16
Natasha M Wickert, Karen W Y Wong Riff, Mark Mansour, Christopher R Forrest, Timothy E E Goodacre, Andrea L Pusic, Anne F Klassen
OBJECTIVE:   The aim of this systematic review was to identify patient-reported outcome (PRO) instruments used in research with children/youth with conditions associated with facial differences to identify the health concepts measured. DESIGN:   MEDLINE, EMBASE, CINAHL, and PsycINFO were searched from 2004 to 2016 to identify PRO instruments used in acne vulgaris, birthmarks, burns, ear anomalies, facial asymmetries, and facial paralysis patients. We performed a content analysis whereby the items were coded to identify concepts and categorized as positive or negative content or phrasing...
December 21, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27987254/application-of-free-serratus-anterior-fascial-flap-for-reconstruction-of-ear-deformity-due-to-hemifacial-microsomia-a-report-of-two-cases
#17
Takashi Nuri, Koichi Ueda, Akira Yamada
Reconstructing congenital auricular defects due to hemifacial microsomia (HFM) is often required to deal with low hairline and defects of the temporal fascia/muscular systems. In this report, we present two cases of HFM patients (16-year-old and 20-year-old) with positional anomaly of the remnant lobule and 95% low hairline, who were treated with serratus anterior fascial flap (SFF) at the second stage of auricular construction. At the first stage, 3D costal cartilage framework was placed following the removal of hair-bearing skin, and was resurfaced with the pericranial flap...
December 17, 2016: Microsurgery
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#18
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27900891/chondrogenesis-of-human-adipose-derived-stem-cells-for-future-microtia-repair-using-co-culture-technique
#19
Bee See Goh, Siti Nurhadis Che Omar, Muhammad Azhan Ubaidah, Lokman Saim, Shamsul Sulaiman, Kien Hui Chua
CONCLUSION: In conclusion, these result showed HADSCs could differentiate into chondrocytes-like cells, dependent on signaling induced by TGF-β3 and chondrocytes. This is a promising result and showed that HADSCs is a potential source for future microtia repair. The technique of co-culture is a positive way forward to assist the microtia tissue. OBJECTIVE: Reconstructive surgery for the repair of microtia still remains the greatest challenge among the surgeons...
November 30, 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#20
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
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