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https://www.readbyqxmd.com/read/28377826/goldenhar-syndrome-with-dextrocardia-and-right-pulmonary-hypoplasia-an-unusual-association
#1
Nagendra Chaudhary, Sandeep Shrestha, Hemant Kumar Halwai
Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28350674/a-new-microtia-reconstruction-method-using-delayed-postauricular-skin-flap
#2
Gaofeng Li, Fan Zhang, Wei Ding, Zihan Wu, Yigao Hu, Tao Luo, Bo Zhang, Xia Jiang
BACKGROUND: This article presents a new microtia reconstruction method using a delayed postauricular skin flap. METHODS: The surgery is scheduled in three stages, the first of which delays the postauricular skin flap and deals with the remnant auricle. Three weeks later, the second stage is carried out. An erect, three-dimensional ear framework fabricated from autogenous rib cartilage is inserted between two flaps. The anterior auricular surface of the framework is draped with the delayed skin flap, and the postauricular surface is draped with postauricular fascia and overlying grafted skin...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28350666/long-term-comparison-between-human-normal-conchal-and-microtia-chondrocytes-regenerated-by-tissue-engineering-on-nanofiber-polyglycolic-acid-scaffolds
#3
Hitomi Nakao, Robin D Jacquet, Mark Shasti, Noritaka Isogai, Ananth S Murthy, William J Landis
BACKGROUND: Previous regeneration studies of auricle-shaped cartilage by tissue engineering leave unresolved whether the chondrocyte phenotype from human auricular chondrocytes seeded onto polymeric scaffolds is retained over the long term and whether microtia remnants may be a viable cell source for auricular reconstruction. METHODS: Chondrocytes were isolated from human ears, either normal conchal ear or microtia cartilage remnants, expanded in vitro, and seeded onto nanoscale-diameter polyglycolic acid sheets...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28326677/implantation-and-positioning-of-a-transcutaneous-magnetic-bone-conduction-hearing-system-for-children-with-microtia-in-preparation-for-auricular-reconstruction
#4
Shradha Sharma, Neil Bulstrode, Andrew Marshall
Microtia is a complex congential issue, which can have a functional and psychosocial effect on patients(1) . It can occur spontaneously or as part of a syndrome. Microtia is a condition in which otolaryngologists and plastic surgeons work closely together in order to reconstruct the ear aesthetically whilst facilitating effective aiding. This article is protected by copyright. All rights reserved.
March 22, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#5
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28296718/qualitative-methods-in-the-development-of-a-bilingual-and-bicultural-quality-of-life-outcomes-measure-for-pediatric-patients-with-craniofacial-conditions
#6
Viridiana Juarez Tapia, Julia Helene Drizin, Cecilia Dalle Ore, Marcelo Nieto, Yajahira Romero, Sandra Magallon, Rohith Nayak, Alicia Sigler, Vanessa Malcarne, Amanda Gosman
INTRODUCTION: Craniofacial surgeons treat patients with diverse craniofacial conditions (CFCs). Yet, little is known about the health-related quality of life (HRQoL) impact of diverse CFCs. Currently, there are no suitable instruments that measure the HRQoL of patients with diverse CFCs from the perspective of children and parents. The objective of this study was to develop the items and support the content validity of a comprehensive patient and parent-reported outcomes measure. METHODS: An iterative process consisting of a systematic literature review, expert opinion and in-depth interviews with patients and parents of patients with diverse CFCs was used...
May 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28296686/sternal-development-and-variations-and-anomalies-in-patients-with-microtia-evaluation-using-3-dimensional-computed-tomography
#7
MeiRong Yang, Haiyue Jiang, Xiaobo Yu, Weiwei Chen, Qingsong Li, Ye Zhang, Bo Pan
OBJECTIVE: The objectives of this study were to evaluate sternal development and variations in patients with microtia and to identify the incidence of congenital sternal anomalies and then to investigate the interaction between microtia and sternal anomalies. METHODS: A total of 212 consecutive patients received a preoperative 3-dimensional chest computed tomography. A retrospective study was performed with the clinical and imaging data from November 2014 to July 2015...
March 15, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28296084/de-novo-loss-of-function-variants-in-stag2-are-associated-with-developmental-delay-microcephaly-and-congenital-anomalies
#8
Sureni V Mullegama, Steven D Klein, Milene V Mulatinho, Tharanga Niroshini Senaratne, Kathryn Singh, Dzung C Nguyen, Natalie M Gallant, Samuel P Strom, Shahnaz Ghahremani, Nagesh P Rao, Julian A Martinez-Agosto
The cohesin complex is an evolutionarily conserved multi-subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. The core of the complex consists of four subunits: SMC1A, SMC3, RAD21, and STAG1/2. Loss-of-function mutations in many of these proteins have been implicated in human developmental disorders collectively termed "cohesinopathies." Through clinical exome sequencing (CES) of an 8-year-old girl with a clinical history of global developmental delay, microcephaly, microtia with hearing loss, language delay, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c...
March 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28293505/accurate-measurements-of-the-skin-surface-area-of-the-healthy-auricle-and-skin-deficiency-in-microtia-patients
#9
Iris A Otto, Rob F M van Doremalen, Ferry P W Melchels, Michail N Kolodzynski, Behdad Pouran, Jos Malda, Moshe Kon, Corstiaan C Breugem
BACKGROUND: The limited cranial skin covering auricular implants is an important yet underrated factor in auricular reconstruction for both reconstruction surgery and tissue engineering strategies. We report exact measurements on skin deficiency in microtia patients and propose an accessible preoperative method for these measurements. METHODS: Plaster ear models (n = 11; male:female = 2:1) of lobular-type microtia patients admitted to the University Medical Center Utrecht in The Netherlands were scanned using a micro-computed tomographic scanner or a cone-beam computed tomographic scanner...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28214971/complete-occipitalization-of-the-atlas-with-bilateral-external-auditory-canal-atresia
#10
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
#11
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
#12
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...
May 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
March 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
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