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https://www.readbyqxmd.com/read/28091408/novel-mutation-of-cleidocranial-dysplasia-related-frameshift-runt-related-transcription-factor-2-in-a-sporadic-chinese-case
#1
Xue-Yan Qin, Pei-Zeng Jia, Hua-Xiang Zhao, Wei-Ran Li, Feng Chen, Jiu-Xiang Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28089922/x-linked-elliptocytosis-with-impaired-growth-is-related-to-mutated-ammecr1
#2
Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, Pola Smirin-Yosef, Irina Lagovsky, Naama Orenstein, Mali Salmon-Divon, Hannah Tamary, Tami Zaft, Lily Bazak, Joseph Meyerovitch, Tal Pelli, Shay Botchan, Luba Farberov, Daphna Weissglas, Noam Shomron
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex)...
January 9, 2017: Gene
https://www.readbyqxmd.com/read/28067972/single-innervated-segmented-vastus-lateralis-for-midfacial-reanimation-during-radical-parotidectomy
#3
Lauren Sh Chong, Timothy J Eviston, Bruce Ashford, Ardalan Ebrahami, Jonathan R Clark
BACKGROUND: Innervated free muscle transfer using the gracilis muscle or temporalis myoplasty has been successfully utilized for facial reanimation in chronic facial palsy. These techniques are less suited to immediate facial reconstruction in the setting of radical parotidectomy, in which the complexity of the defect, patient age, postoperative radiotherapy, and limited life expectancy pose particular challenges. METHODS: We present a novel description of the use of a chimeric anterolateral thigh (ALT) flap and innervated vastus lateralis to achieve midface static suspension and dynamic reanimation in the setting of radical parotidectomy...
January 9, 2017: Head & Neck
https://www.readbyqxmd.com/read/28061357/characteristics-of-alcohol-related-facial-fractures
#4
Kai Lee, Michael Qiu
PURPOSE: Excessive indulgence in alcohol is a key causative factor in facial fractures especially in settings of interpersonal violence (IPV) and motor vehicle accidents. This study aims to explore characteristics of alcohol-involved facial fractures in the state of Victoria, Australia, over a 10-year period. MATERIALS AND METHODS: This retrospective study analyzed data from the Victorian Admitted Episodes Dataset between 2004 and 2014; the Victorian Admitted Episodes Dataset is a standardized database reported by all Victorian hospitals for every admission...
December 18, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28060091/midface-distraction-osteogenesis-using-a-modified-external-device-with-elastic-distraction-for-crouzon-syndrome
#5
Haizhou Tong, Lei Liu, Xiaojun Tang, Tao Song, Ningbei Yin, Zhiyong Zhang, Zhenmin Zhao
PURPOSE: Midface distraction osteogenesis has been popularized for the correction of midface hypoplasia associated with exophthalmos and obstructive sleep apnea in patients with Crouzon syndrome. The purpose of this study was to present the method of utilizing the modified external device with elastic distraction for the midface advancement in Crouzon syndrome, and the clinical outcomes and skeletal changes were analyzed. METHODS: Five consecutive patients with Crouzon syndrome underwent Le Fort III osteotomy with midface advancement using a modified external device with elastic distraction...
January 5, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28058213/face-transplantation-anesthetic-challenges
#6
REVIEW
Aparna Dalal
Face transplantation is a complex vascular composite allotransplantation (VCA) surgery. It involves multiple types of tissue, such as bone, muscles, blood vessels, nerves to be transferred from the donor to the recipient as one unit. VCAs were added to the definition of organs covered by the Organ Procurement and Transplantation Network Final Rule and National Organ Transplant Act. Prior to harvest of the face from the donor, a tracheostomy is usually performed. The osteotomies and dissection of the midface bony skeleton may involve severe hemorrhagic blood loss often requiring transfusion of blood products...
December 24, 2016: World Journal of Transplantation
https://www.readbyqxmd.com/read/28056872/a-limb-girdle-myopathy-phenotype-of-runx2-mutation-in-a-patient-with-cleidocranial-dysplasia-a-case-study-and-literature-review
#7
Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin, Chin-Hsien Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene...
January 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28033645/the-facial-adipose-tissue-a-revision
#8
Ilja Kruglikov, Oscar Trujillo, Quick Kristen, Kerelos Isac, Julia Zorko, Maria Fam, Kasie Okonkwo, Asima Mian, Hyunh Thanh, Konstantin Koban, Anthony P Sclafani, Hanno Steinke, Sebastian Cotofana
Recent advantages in the anatomical understanding of the face have turned the focus toward the subcutaneous and deep facial fat compartments. During facial aging, these fat-filled compartments undergo substantial changes along with other structures in the face. Soft tissue filler and fat grafting are valid methods to fight the signs of facial aging, but little is known about their precise effect on the facial fat. This narrative review summarizes the current knowledge about the facial fat compartments in terms of anatomical location, histologic appearance, immune-histochemical characteristics, cellular interactions, and therapeutic options...
December 2016: Facial Plastic Surgery: FPS
https://www.readbyqxmd.com/read/28018437/1p36-deletion-syndrome-confirmed-by-fluorescence-in-situ-hybridization-and-array-comparative-genomic-hybridization-analysis
#9
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28005826/porous-polyethylene-implant-as-aesthetic-complement-in-orthognathic-surgery
#10
Juliana Dreyer da Silva de Menezes, Lucas Borin Moura, Renato Parsekian Martins, Eduardo Hochuli-Vieira
Porous polyethylene implants have been used as an alternative in the treatment of patients with zygomatic and paranasal projections deficiency. These implants promote a facial rejuvenating effect due to the attenuation of the nasal and chin prominences. The advantages of porous polyethylene include biocompatibility, dimensional stability, easy adaptation and fixation, low complication rate, and its availability in different sizes and shapes. A 27-year-old woman presenting vertical deficiency associated with midface hypoplasia was treated with orthognathic surgery...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005762/jaw-in-a-day-state-of-the-art-in-maxillary-reconstruction
#11
Christopher M Runyan, Vishal Sharma, David A Staffenberg, Jamie P Levine, Lawrence E Brecht, Leonard H Wexler, David L Hirsch
BACKGROUND: Reconstruction of maxillary defects following tumor extirpation is challenging because of combined aesthetic and functional roles of the maxilla. One-stage reconstruction combining osseous free flaps with immediate osseointegrated implants are becoming the standard for mandibular defects, and have similar potential for maxillary reconstruction. METHODS: A woman with maxillary Ewing sarcoma successfully treated at age 9 with neoadjuvant chemotherapy, right hemimaxillectomy, and obturator prosthetic reconstruction presented for definitive reconstruction, complaining of poor obturator fit, and hypernasality...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005751/postoperative-improvement-of-diplopia-and-extraocular-muscle-movement-in-patients-with-reconstructive-surgeries-for-orbital-floor-fractures
#12
Shao-Rui Liu, Xue-Fei Song, Zheng-Kang Li, Qin Shen, Xian-Qun Fan
OBJECTIVE: With orbital floor fracture incidence rates increasing year by year, many patients require surgical treatment to improve diplopia, limitation of extraocular muscle movement (EOM), enophthalmos, and midface appearance. With the use of high-density polyethylene, titanium screws, titanium plate, and titanium mesh to repair an orbital floor fracture, enophthalmos and midfacial deformity correction procedures have made great progress. However, attenuating diplopia and the limitation of EOM are still difficult problems to prevent...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28000407/zygomaticomaxillary-morphology-and-maxillary-sinus-form-and-function-how-spatial-constraints-influence-pneumatization-patterns-among-modern-humans
#13
Scott D Maddux, Lauren N Butaric
Previous research has suggested that the maxillary sinuses may act as "zones of accommodation" for the nasal region, minimizing the impact of climatic-related changes in nasal cavity breadth on surrounding skeletal structures. However, a recent study among modern human crania has identified that, in addition to nasal cavity breadth, sinus morphology also tracks lateral facial form, especially anterior-posterior positioning of the zygomatics. Here, we expand upon this previous study to further investigate these covariation patterns by employing three samples with distinct combinations of nasal and zygomatic morphologies: Northern Asians (n = 28); sub-Saharan Africans (n = 30); and Europeans (n = 29)...
January 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/27997463/outcomes-of-endoscopic-dacryocystorhinostomy-in-secondary-acquired-nasolacrimal-duct-obstruction-a-case-control-study
#14
Adam R Sweeney, Greg E Davis, Shu-Hong Chang, Arash J Amadi
INTRODUCTION: Secondary acquired nasolacrimal duct obstruction (SANDO), where the obstruction is caused by a known process, is becoming more commonly treated by endoscopic dacryocystorhinostomy (endoDCR). This study evaluates outcomes of endoDCR for cases of SANDO in comparison to endoDCR outcomes treating primary acquired nasolacrimal duct obstruction (PANDO). METHODS: All patients undergoing endoDCR from 2006 to 2015 at a tertiary referral center were reviewed for etiology of nasolacrimal duct obstruction (NLDO) and success of procedure...
December 16, 2016: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27956141/slotplates-revisited-a-retrospective-analysis
#15
Brandaan G R Zigterman, Maurice Y Mommaerts
CONTEXT: Slotplates were specifically designed to meet the special requirements of corrective surgeries of the facial skeleton. This design enables small readjustments of bone fragments in the midface and chin area during surgery without complete removal of plates and screws. OBJECTIVE, DESIGN, AND SETTING: The aim of this study was to compare morbidity rates of slotplates versus meshplates after Le Fort I osteotomy, genioplasty and/or zygoma 'sandwich' osteotomy performed in a tertiary care centre...
November 2, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27955642/short-stature-platyspondyly-hip-dysplasia-and-retinal-detachment-an-atypical-type-ii-collagenopathy-caused-by-a-novel-mutation-in-the-c-propeptide-region-of-col2a1-a-case-report
#16
Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, and molecular features of a family with an atypical type II collagenopathy. CASE PRESENTATION: A family with three affected males in three generations was described. Prominent clinical findings included short stature with platyspondyly, flat midface and Pierre Robin sequence, severe dysplasia of the proximal femora, and severe retinopathy that could lead to blindness...
December 12, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27922954/midface-advancement-in-a-simple-approach
#17
Herman Vercruysse, Ramon Sieira-Gil, Alfons Navarro, Eloy Garcia-Diez
BACKGROUND: Midface advancement is a keystone intervention in the treatment plan of syndromic hypoplasia of the midface. Although earlier authors had been using a combination of smaller incisions to acquire enough access to perform the different osteotomies, Tessier popularized the bicoronal incision. This approach can be time-consuming however and leaves an ear-to-ear scar. The authors describe an endoscopically assisted piezo-electric Le Fort III osteotomy performed through minimal invasive access...
December 5, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27911355/effectiveness-and-safety-of-large-gel-particle-hyaluronic-acid-with-lidocaine-for-correction-of-midface-volume-deficit-or-contour-deficiency-erratum
#18
(no author information available yet)
No abstract text is available yet for this article.
October 2016: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/27893558/medial-femoral-condyle-free-flap-for-premaxillary-reconstruction-in-median-facial-dysplasia
#19
Jong Woo Choi, Woo Shik Jeong, Soon Man Kwon, Kyung S Koh
OBJECTIVE: Median facial dysplasia is a distinct development anomaly of the craniofacial region that is characterized by deficient mid facial structures. Medial femoral condyle free flap could be used as a bony flap, and the unique characteristics of this flap provide the surgeons with the periosteal component as well. In this work, the authors present our experience with a patient of median facial dysplasia with unilateral cleft lip, cleft palate, and premaxillary deficiency. METHODS: The patient was diagnosed with median facial dysplasia accompanied by unilateral cleft lip, cleft palate, and premaxillary...
November 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27893551/mid-face-degloving-an-alternate-approach-to-extended-osteotomies-of-the-midface
#20
Anantanarayanan Parameswaran, Naveen Kumar Jayakumar, Manikandhan Ramanathan, Hermann F Sailer
Extended osteotomies for mid-face advancement require generous exposure of the anterior maxilla, nasal bones, infraorbital rims, orbital floor, zygoma, and the anterior third of the zygomatic arches. This cannot be obtained with an exclusive transoral approach. Hence, the surgeon is usually compelled to utilize supplemental cutaneous incisions that are a compromise on the purpose behind a cosmetic surgery. In order to alleviate the need for such compromise, the authors advocate the mid face degloving approach for extended osteotomies at Lefort II and Lefort III levels...
January 2017: Journal of Craniofacial Surgery
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