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Craniofacial deformity

John F Gamble, Dinesh J Kurian, Andrea G Udani, Nathaniel H Greene
We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation...
2016: Case Reports in Pediatrics
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Enrico Ghizoni, Cesar Augusto Raposo-Amaral
BACKGROUND: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. METHODS: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients...
October 6, 2016: Annals of Plastic Surgery
James C Wang, Laszlo Nagy, Joshua C Demke
Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. More than 150 syndromes are associated with craniosynostosis. This article describes some commonalities and distinguishing features and management of syndromic synostosis. Also addressed is secondary synostosis, which is often found in syndromic children with problems related to microcephaly, hydrocephalus, or shunt-induced craniosynostosis, although pathophysiologically and genetically different...
November 2016: Facial Plastic Surgery Clinics of North America
Lauren A Bohm, James D Sidman, Brianne Roby
This article reviews the presentation of children with craniofacial anomalies by the most common sites of airway obstruction. Major craniofacial anomalies may be categorized into those with midface hypoplasia, mandible hypoplasia, combined midface and mandible hypoplasia, and midline deformities. Algorithms of airway interventions are provided to guide the initial management of these complex patients.
November 2016: Facial Plastic Surgery Clinics of North America
B C J Majoor, N M Appelman-Dijkstra, M A J van de Sande, H M Kroon, N A T Hamdy, P D S Dijkstra
Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment...
2016: Nederlands Tijdschrift Voor Geneeskunde
Madhavilatha Routhu, Sreedevi Thakkallapelli, Prashanthi Mohan, Nadeem Ahmed
Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan...
2016: International Journal of Reproductive Medicine
Élcio Magdalena Giovani, Kelly Cristine Tarquinio Marinho, Ruth Andia-Merlin
Opitz G/BBB syndrome is a genetic condition characterized by several abnormalities along the midline of the body, such as hypertelorism, craniofacial deformities, and dysphagia. This study reports the clinical features of Optiz syndrome and its importance in the knowledge of patients who are developmentally challenged as a whole, in order to establish adequate dental treatment for a certain clinical case. A 19-year-old patient visited the Paulista University for a dental treatment. The extraoral examination revealed ocular hypertelorism (wide-spaced eyes), oblique eyelids, epicanthus, low-set cart, and intellectual disability...
September 19, 2016: Special Care in Dentistry
Jeffrey C Posnick, Jorge Perez, Anish Chavda
PURPOSE: The purpose of this study was to assess for the maintenance of a corrected occlusion and ongoing mandibular growth in a group of patients younger than 26 years with hemimandibular elongation (HME) who underwent bimaxillary orthognathic reconstruction. MATERIALS AND METHODS: We conducted a retrospective cohort study of HME patients operated on by a single surgeon at 1 institution between 1999 and 2013. At a minimum, all patients underwent Le Fort I and bilateral sagittal ramus osteotomies...
August 24, 2016: Journal of Oral and Maxillofacial Surgery
Zhiye Li, Ruikai Ba, Zhifa Wang, Jianhua Wei, Yimin Zhao, Wei Wu
: : Craniofacial deformities caused by congenital defects or trauma remain challenges for clinicians, whereas current surgical interventions present limited therapeutic outcomes. Injection of bone marrow-derived mesenchymal stem cells (BMSCs) into the defect is highly desirable because such a procedure is microinvasive and grafts are more flexible to fill the lesions. However, preventing hypertrophic transition and morphological contraction remain significant challenges. We have developed an "all host derived" cell transplantation system composed of chondrocyte brick (CB)-enriched platelet-rich plasma (P) gel and BMSCs (B)...
September 14, 2016: Stem Cells Translational Medicine
Henri Aarnivala, Ville Vuollo, Virpi Harila, Tuomo Heikkinen, Pertti Pirttiniemi, Lasse Holmström, A Marita Valkama
: Deformational plagiocephaly is reported in up to 46.6 % of healthy infants, with the highest point prevalence at around 3 months of age. Few prospective studies on the natural course of skull deformation have been conducted, and we know of no studies using 3D imaging starting from the highest point prevalence period. In this prospective, population-based cohort study, we describe the course of cranial asymmetry and shape in an unselected population using 3D stereophotogrammetry and investigate factors associated with late cranial deformation and failure to recover from previous deformation...
September 13, 2016: European Journal of Pediatrics
Arman T Serebrakian, Michael S Golinko, Michael Alperovich, Christopher M Runyan, David A Staffenberg
Craniofacial microsomia remains the second most common craniofacial deformity after cleft lip and palate. Mandibular pathology has been classically scored from type I to type III by the modified Pruzansky-Kaban classification. The authors report a case of a 5-year-old patient with Goldenhar syndrome and bilateral type III craniofacial macrosomia. The patient had absence of bilateral glenoid fossas, condyles, coronoids, and rami as well as hypoplasia of the symphysis, parasymphysis, and mandibular body. Reconstruction was performed using 2 costochondral rib autografts to reconstruct a ramus and assist in the development of a neo-glenoid fossa at the cranial base...
October 2016: Journal of Craniofacial Surgery
Khalid Nasser Fadle, Ahmed Gaber Hassanein, Abdin K Kasim
INTRODUCTION: Fibrous dysplasia (FD) is a non-neoplastic developmental fibro-osseous disease. It represents 2.5% of all bone tumors and 5% to 7% of the benign bone tumors. Orbitocranial region is involved in about 20% of the patients. The main presentations are craniofacial deformity and headache. Loss of vision is the most devastating result of this disease. There is no medical treatment to cure or prevent FD. Radiation therapy is contraindicated. Surgery for the orbitocranial FD is often challenging because of the proximity of neurovascular and ocular structures...
September 9, 2016: Journal of Craniofacial Surgery
B L Foster, P Kuss, M C Yadav, T N Kolli, S Narisawa, L Lukashova, E Cory, R L Sah, M J Somerman, J L Millán
Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization. ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme expressed in bone, teeth, liver, and kidney that hydrolyzes the mineralization inhibitor inorganic pyrophosphate. As Alpl-null mice die before weaning, we aimed to generate mouse models of late-onset HPP with extended life spans by engineering a floxed Alpl allele, allowing for conditional gene ablation (conditional knockout [cKO]) when crossed with Cre recombinase transgenic mice...
August 31, 2016: Journal of Dental Research
Chingiz Rahimov, Ruslan Asadov, Gunel Hajiyeva, Nazim Verdiyev, Zaur Novruzov, Ismayil Farzaliyev
Crouzon syndrome is one of the frequent pathologies within craniosynostosis syndrome. Current progress in computers and biotechnologies allows improving surgical approach and forecasting final result of reconstruction as well. We present a case of successful surgical treatment of Crouzon syndrome, done by application of virtual planning allowing determining "monobloc" features, type of reconstruction and distraction protocol as well. A 20-year-old female had presented with craniofacial deformity. Clinical and radiological investigation revealed Crouzon syndrome...
January 2016: Annals of Maxillofacial Surgery
Stefani C Fontana, Debora Daniels, Thomas Greaves, Niaman Nazir, Jeff Searl, Brian T Andrews
Deformational plagiocephaly (DP) in infants has been associated with developmental delay that can last until adolescence. Despite this association and a 5-fold increase in incidence of DP over the past 2 decades, there are currently no guidelines regarding screening for developmental delay or identification of which infants with DP are at the greatest risk of delay. A prospective, nonrandomized study was performed. Infants diagnosed with DP who had no prior intervention were eligible for enrollment. Cranial deformity was measured by cross-cranial measurements using calipers, and developmental delay was measured using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III)...
August 24, 2016: Journal of Craniofacial Surgery
Yang Cao, Elyse B Mitchell, Jerome L Gorski, Cassandra Hollinger, Nicole L Hoppman
Here, we report strong evidence for a role of the FNDC3B gene in craniofacial development. Chromosomal microarray identified deletions at 3q26.31 in two patients with dysmorphic facial features. Parental FISH studies demonstrated that they are de novo; therefore, these two 3q26.31 microdeletions likely contribute to the patients' dysmorphic features. Interestingly, the minimal region of overlap contains only the FNDC3B gene. Ffibronectin domain III-containing protein 3B (FNDC3B), also known as factor for adipocyte differentiation-104 (FAD104), was first identified as a positive regulator of adipogenesis in a mouse model...
August 19, 2016: American Journal of Medical Genetics. Part A
Gayatri Shankaran, Suryakant Chhagan Deogade, Rajesh Dhirawani
Rapid prototyping (RP) is a technique of manufacturing parts by the additive layer manufacturing technology; where, a three-dimensional (3D) model created in a computer aided design (CAD) system is sectioned into 2D profiles, which are further constructed by RP layer by layer. Its use is not limited to industrial or engineering fields and has extended to the medical field for the manufacturing of custom implants and prostheses, the study of anatomy and surgical planning. Nowadays, dentists are more frequently encountered with the individuals affected with craniofacial defects due to trauma...
January 2016: Journal of Dentistry of Tehran University of Medical Sciences
Ali Al Kaissi, Jochen Hofstaetter, Gerlinde Weigel, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
INTRODUCTION: A 13-year-old child was clinically diagnosed with mucopolysaccharidosis type VI-Maroteaux-Lamy syndrome (MPS VI) at the age of 5 years, and the diagnosis was confirmed biochemically and genetically (homozygous mutation in ARSB gene). At that time, his older brother manifested with increasing severe mental retardation. His urinary glycosaminoglycan excretion in urine was elevated, but there was only 1 mutation in the ARSB gene defining him as a healthy carrier of MPS VI. The 15-year-old boy was born with dysmorphic facial features, cleft lip and palate, and multiple contractures associated with profound skeletal deformities manifested, severe mental retardation, and seizures, leading to the diagnosis of cerebral palsy from birth on...
August 2016: Medicine (Baltimore)
H E Matar, N K Garg
INTRODUCTION Larsen syndrome is an autosomal-dominant osteochondrodysplasia characterised by large joint dislocations and craniofacial anomalies. CASE HISTORY We present a rare case of Larsen syndrome with bilateral dislocated hips and knees and severe clubfeet at 7-year follow-up. We undertook bilateral open reduction of both hips at age 8 months. This procedure was preceded by open reduction and left-knee V-Y quadricepsplasty at age 4 months following a failed trial of closed reduction of the left knee. Both feet had a severe deformity (Pirani score of 5...
August 9, 2016: Annals of the Royal College of Surgeons of England
R Christian Solem, Antonio Ruellas, Arthur Miller, Katherine Kelly, Joni L Ricks-Oddie, Lucia Cevidanes
INTRODUCTION: Disordered craniofacial development frequently results in definitive facial asymmetries that can significantly impact a person's social and functional well-being. The mandible plays a prominent role in defining facial symmetry and, as an active region of growth, commonly acquires asymmetric features. Additionally, syndromic mandibular asymmetry characterizes craniofacial microsomia (CFM), the second most prevalent congenital craniofacial anomaly (1:3000 to 1:5000 live births) after cleft lip and palate...
August 2016: American Journal of Orthodontics and Dentofacial Orthopedics
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