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Harsh Pipalia, Praveen Ganesh, Samarth Shetty, Paul C Salins, Rohan Raut, Kiran Kumar Boyina
Three-dimensional virtual surgery programs are widely available for orthognathic surgery. The advent of imaging software programs has proved to be useful for diagnosis, treatment planning, outcome measurement, and three-dimensional surgical simulation. Complex maxillofacial malformations continue to present challenges in analysis and correction beyond modern technology. Orthomorphic correction for mandibular dysmorphology refers to basal bone movement without any change in dental component. The purpose of this paper is to present a virtual surgery planning for surgeons to perform the orthomorphic surgery with precision and quantification...
October 14, 2016: Journal of Craniofacial Surgery
Philip A May, Anna-Susan Marais, Marlene M de Vries, Wendy O Kalberg, David Buckley, Julie M Hasken, Colleen M Adnams, Ronel Barnard, Belinda Joubert, Marise Cloete, Barbara Tabachnick, Luther K Robinson, Melanie A Manning, Kenneth Lyons Jones, Heidre Bezuidenhout, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
BACKGROUND: The prevalence and characteristics of the continuum of diagnoses within fetal alcohol spectrum disorders (FASD) were researched in a fifth sample in a South African community. METHODS: An active case ascertainment approach was employed among all first grade learners in this community (n=862). Following individual examination by clinical geneticists/dysmorphologists, cognitive/behavioral testing, and maternal interviews, final diagnoses were made in multidisciplinary case conferences...
October 6, 2016: Drug and Alcohol Dependence
Jeffrey R Wozniak, Bryon A Mueller, Sarah N Mattson, Claire D Coles, Julie A Kable, Kenneth L Jones, Christopher J Boys, Kelvin O Lim, Edward P Riley, Elizabeth R Sowell
: Consistent with well-documented structural and microstructural abnormalities in prenatal alcohol exposure (PAE), recent studies suggest that functional connectivity (FC) may also be disrupted. We evaluated whole-brain FC in a large multi-site sample, examined its cognitive correlates, and explored its potential to objectively identify neurodevelopmental abnormality in individuals without definitive dysmorphic features. Included were 75 children with PAE and 68 controls from four sites...
October 12, 2016: Brain Imaging and Behavior
Turan Tunc, Adem Polat, Bilal Altan, Abdul Kerim Yapici, Mehmet Saldir, Sabahattin Sari, Erkan Sari, Yalcin Bayram, Muhitdin Eski
Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature...
October 10, 2016: Cleft Palate-craniofacial Journal
Edith V Sullivan, Barton Lane, Dongjin Kwon, M J Meloy, Susan F Tapert, Sandra A Brown, Ian M Colrain, Fiona C Baker, Michael D De Bellis, Duncan B Clark, Bonnie J Nagel, Kilian M Pohl, Adolf Pfefferbaum
Structural MRI of volunteers deemed "normal" following clinical interview provides a window into normal brain developmental morphology but also reveals unexpected dysmorphology, commonly known as "incidental findings." Although unanticipated, these anatomical findings raise questions regarding possible treatment that could even ultimately require neurosurgical intervention, which itself carries significant risk but may not be indicated if the anomaly is nonprogressive or of no functional consequence. Neuroradiological readings of 833 structural MRI from the National Consortium on Alcohol and NeuroDevelopment in Adolescence (NCANDA) cohort found an 11...
October 8, 2016: Brain Imaging and Behavior
Amel Ibrahim, Michael Suttie, Neil W Bulstrode, Jonathan A Britto, David Dunaway, Peter Hammond, Patrizia Ferretti
BACKGROUND: Midface hypoplasia as exemplified by Treacher Collins Syndrome (TCS) can impair appearance and function. Reconstruction involves multiple invasive surgeries with variable long-term outcomes. This study aims to describe normal and dysmorphic midface postnatal development through combined modelling of skeletal and soft tissues and to develop a surgical evaluation tool. MATERIALS AND METHODS: Midface skeletal and soft tissue surfaces were extracted from computed tomography scans of 52 control and 14 TCS children, then analysed using dense surface modelling...
September 2, 2016: Journal of Cranio-maxillo-facial Surgery
Annika C Montag, Andrew D Hull, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Zoryana Sosyniuk, Viktor Dolhov, Kenneth Lyons Jones, Wladimir Wertelecki, Christina D Chambers
BACKGROUND: Early detection of fetal alcohol spectrum disorders (FASDs) is desirable to allow earlier and more comprehensive interventions to be initiated for the mother and infant. We examined prenatal ultrasound as an early method of detecting markers of the physical features and neurobehavioral deficits characteristic of FASD. METHODS: A longitudinal cohort of pregnant women in Ukraine was recruited as part of the Collaborative Initiative on Fetal Alcohol Spectrum Disorders...
September 30, 2016: Alcoholism, Clinical and Experimental Research
Consolato Sergi, Oana Caluseriu, Hunter McColl, David D Eisenstat
On the occasion of the 100(th) anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort towards identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. HSCR is characterized by the absence of ganglia of the enteric nervous system, mostly in the distal gastrointestinal tract (GIT)...
September 28, 2016: Pediatric Research
Joseph T Hefner, Michael W Warren
Achondroplasia (chondrodystrophia) is an autosomal dominant inherited disorder affecting approximately 1 in 26,000 live births and is the most common cause of dwarfism in humans. Disproportionate short stature and a suite of craniofacial characteristics typify achondroplasia. The literature available for differential diagnosis of the disorder relies primarily on the postcranial skeleton. In this paper, a possible case of achondroplasia is presented. The cranium presents a unique suite of cranial and craniofacial dysmorphologies...
September 16, 2016: Journal of Forensic Sciences
Khalid M Alharthy, Faisal F Albaqami, Cammi Thornton, Jone Corrales, Kristine L Willett
Benzo[a]pyrene (BaP) is a ubiquitous environmental contaminant that is both an endocrine disruptor and a carcinogen. Aromatase (CYP19) is a key enzyme in steroidogenesis that is responsible for conversion of androgens to estrogens and thus plays a key role in steroid homeostasis. We hypothesized that some of the adverse outcomes of early developmental exposure to BaP are the result of reduced Cyp19a1b activity. Our goal was to investigate the role of estrogen homeostasis during early development and determine the role of aromatase inhibition as a relevant mechanism in BaP's developmental toxicities...
September 14, 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
Susan L Makris, Cheryl Siegel Scott, John Fox, Thomas B Knudsen, Andrew K Hotchkiss, Xabier Arzuaga, Susan Y Euling, Christina M Powers, Jennifer Jinot, Karen A Hogan, Barbara D Abbott, E Sidney Hunter, Michael G Narotsky
The 2011 EPA trichloroethylene (TCE) IRIS assessment, used developmental cardiac defects from a controversial drinking water study in rats (Johnson et al. [51]), along with several other studies/endpoints to derive reference values. An updated literature search of TCE-related developmental cardiac defects was conducted. Study quality, strengths, and limitations were assessed. A putative adverse outcome pathway (AOP) construct was developed to explore key events for the most commonly observed cardiac dysmorphologies, particularly those involved with epithelial-mesenchymal transition (EMT) of endothelial origin (EndMT); several candidate pathways were identified...
October 2016: Reproductive Toxicology
Rosalinda Calandrelli, Gabriella D'Apolito, Luca Massimi, Simona Gaudino, Emiliano Visconti, Sandro Pelo, Concezio Di Rocco, Cesare Colosimo
PURPOSE: The study aimed to identify premature synostosis of "major" and "minor" sutures of the coronal sutural arch and splanchnocranium sutures to evaluate the relationship between craniofacial dysmorphology and the sutural pattern in children with anterior plagiocephaly. METHODS: A quantitative analysis of the skull base and facial changes was performed on preoperative high-resolution CT images in 18 children with anterior synostotic plagiocephaly and compared with imaging findings in 18 age-matched healthy subjects...
August 19, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Patrick K Goh, Lauren R Doyle, Leila Glass, Kenneth L Jones, Edward P Riley, Claire D Coles, H Eugene Hoyme, Julie A Kable, Philip A May, Wendy O Kalberg, Elizabeth R Sowell, Jeffrey R Wozniak, Sarah N Mattson
OBJECTIVE: To develop and validate a hierarchical decision tree model that combines neurobehavioral and physical measures to identify children affected by prenatal alcohol exposure even when facial dysmorphology is not present. STUDY DESIGN: Data were collected as part of a multisite study across the US. The model was developed after we evaluated more than 1000 neurobehavioral and dysmorphology variables collected from 434 children (8-16 years of age) with prenatal alcohol exposure, with and without fetal alcohol syndrome, and nonexposed control subjects, with and without other clinically-relevant behavioral or cognitive concerns...
October 2016: Journal of Pediatrics
Douglas J Fort, Troy D Fort, Michael B Mathis, R Wayne Ball
The potential reproductive and endocrine toxicity of boric acid (BA) in the African clawed frog, Xenopus laevis, was evaluated using a 30-d exposure of adult frogs. Adult female and male frogs established as breeders were exposed to a culture water control and four target (nominal) test concentrations (5.0, 7.5, 10.0, and 15 mg boron (B)/L, equivalent to 28.5, 42.8, 57.0, and 85.5 mg BA/L) using flow-through diluter exposure system. The primary endpoints measured were adult survival, growth (weight and snout-vent length [SVL]), necropsy data, reproductive fecundity, and development of progeny (F1) from the exposed frogs...
July 27, 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
H Eugene Hoyme, Wendy O Kalberg, Amy J Elliott, Jason Blankenship, David Buckley, Anna-Susan Marais, Melanie A Manning, Luther K Robinson, Margaret P Adam, Omar Abdul-Rahman, Tamison Jewett, Claire D Coles, Christina Chambers, Kenneth L Jones, Colleen M Adnams, Prachi E Shah, Edward P Riley, Michael E Charness, Kenneth R Warren, Philip A May
The adverse effects of prenatal alcohol exposure constitute a continuum of disabilities (fetal alcohol spectrum disorders [FASD]). In 1996, the Institute of Medicine established diagnostic categories delineating the spectrum but not specifying clinical criteria by which diagnoses could be assigned. In 2005, the authors published practical guidelines operationalizing the Institute of Medicine categories, allowing for standardization of FASD diagnoses in clinical settings. The purpose of the current report is to present updated diagnostic guidelines based on a thorough review of the literature and the authors' combined expertise based on the evaluation of >10 000 children for potential FASD in clinical settings and in epidemiologic studies in conjunction with National Institute on Alcohol Abuse and Alcoholism-funded studies, the Collaborative Initiative on Fetal Alcohol Spectrum Disorders, and the Collaboration on FASD Prevalence...
August 2016: Pediatrics
Elissa Kim, Melissa D Kanack, Milan D Dang-Vu, Daniela Carvalho, Marilyn C Jones, Amanda A Gosman
OBJECTIVE:   The purpose of this study was to assess the effect of ventilation tube (VT) placement on long-term hearing outcomes in children with cleft palate. STUDY DESIGN:   Case series with chart review. SETTING:   Genetic and dysmorphology database at Rady Children's Hospital-San Diego (RCHSD). PATIENTS:   Children with cleft palate diagnosis who underwent surgery at RCHSD between 1995 and 2002. MAIN OUTCOME MEASURE:   The primary outcome studied was hearing acuity at 10 years of age...
July 21, 2016: Cleft Palate-craniofacial Journal
Isabel Huang-Doran, Stephen Franks
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women and a leading cause of female infertility worldwide. Defined clinically by the presence of hyperandrogenemia and oligomenorrhoea, PCOS represents a state of hormonal dysregulation, disrupted ovarian follicle dynamics, and subsequent oligo- or anovulation. The syndrome's prevalence is attributed, at least partly, to a well-established association with obesity and insulin resistance (IR). Indeed, the presence of severe PCOS in human genetic obesity and IR syndromes supports a causal role for IR in the pathogenesis of PCOS...
2016: Frontiers in Endocrinology
L J J Gowans, W L Adeyemo, M Eshete, P A Mossey, T Busch, B Aregbesola, P Donkor, F K N Arthur, S A Bello, A Martinez, M Li, E A Augustine-Akpan, W Deressa, P Twumasi, J Olutayo, M Deribew, P Agbenorku, A A Oti, R Braimah, G Plange-Rhule, M Gesses, S Obiri-Yeboah, G O Oseni, P B Olaitan, L Abdur-Rahman, F Abate, T Hailu, P Gravem, M O Ogunlewe, C J Buxó, M L Marazita, A A Adeyemo, J C Murray, A Butali
Orofacial clefts (OFCs) are congenital dysmorphologies of the human face and oral cavity, with a global incidence of 1 per 700 live births. These anomalies exhibit a multifactorial pattern of inheritance, with genetic and environmental factors both playing crucial roles. Many loci have been implicated in the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in populations of Asian and European ancestries, through genome-wide association studies and candidate gene studies. However, few populations of African descent have been studied to date...
October 2016: Journal of Dental Research
Olivia K Gardner, Karla Haynes, Daniela Schweitzer, Alexis Johns, William P Magee, Mark M Urata, Pedro A Sanchez-Lara
We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology...
June 29, 2016: Cleft Palate-craniofacial Journal
K Wang, Y T Li, M Hou
Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. The most common genetic defects include maternal deletions in chromosome 15q11-13; however, paternal uniparental disomy and imprinting defects allow for the identification of mutations in UBE3A in 10% of patients with AS. The aim of this study was to validate the clinical features and genetic polymorphisms of AS, and to discuss the relationship between functional language lateralization and the arcuate fasciculus in the Broca's and Wernicke's areas...
2016: Genetics and Molecular Research: GMR
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