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Dysmorphology

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https://www.readbyqxmd.com/read/28212130/periorbital-soft-tissue-anthropometric-analysis-of-young-adults
#1
Turan Ozdemir, Fatma Ezgi Can, Sefa Isiklar, Ilker Ercan, Nedim Simsek Cankur
The authors aim to determine the periorbital soft tissue anthropometric norms for Turkish young adults for right and left eyes using a noninvasive two-dimensional photogrammetric analysis. Anthropometric measurements of the periorbital soft tissue were taken from 172 female and 56 male Turkish adults aged between 18 and 24 years. The periorbital soft tissue profiles (ocular and palpebral) for males and females were digitally analyzed using linear measurements made with standardized photographic records, taken in a natural head position...
February 16, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28209493/quantitative-analysis-of-fetal-facial-morphology-using-3d-ultrasound-and-statistical-shape-modelling-a-feasibility-study
#2
Andrea Dall'Asta, Silvia Schievano, Jan L Bruse, Gowrishankar Paramasivam, Christine Tita Kaihura, David Dunaway, Christoph C Lees
BACKGROUND: The antenatal detection of facial dysmorphism using three-dimensional ultrasound may raise the suspicion of an underlying genetic conditions but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and non invasive prenatal testing, not all genetic conditions can be ascertained from such testing. OBJECTIVES: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal three-dimensional ultrasound volumes and statistical shape modelling...
February 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28159942/dysmorphism-in-non-syndromic-autism-a-cross-sectional-study
#3
Susan Mary Zachariah, Samuel Philip Oommen, Caroline Sanjeev Padankatti, Hannah Grace, Lincy Glory
OBJECTIVE: To determine the effect of association of dysembryogenesis (manifested by presence of dysmorphic markers) on the developmental profile of autistic children. METHODS: 26 autistic children were classified into complex autism (if they had specific dysmorphic markers) or essential autism (in the absence of dysmorphic markers) using the Miles Autism Dysmorphology Measure (ADM). The developmental abilities (Griffith's Mental Development Scales) and the clinical severity (Childhood Autism Rating Scale) of both groups were compared...
February 2, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28156213/structural-brain-differences-in-school-age-children-with-and-without-single-suture-craniosynostosis
#4
Kristina Aldridge, Brent R Collett, Erin R Wallace, Craig Birgfeld, Jordan R Austin, Regina Yeh, Madison Feil, Kathleen A Kapp-Simon, Elizabeth H Aylward, Michael L Cunningham, Matthew L Speltz
OBJECTIVE Single-suture craniosynostosis (SSC), the premature fusion of a cranial suture, is characterized by dysmorphology of the craniofacial skeleton. Evidence to suggest that children with SSC are at an elevated risk of mild to moderate developmental delays and neurocognitive deficits is mounting, but the associations among premature suture fusion, neuroanatomy, and neurocognition are unexplained. The goals of this study were to determine 1) whether differences in the brain are present in young children with the 2 most common forms of SSC (sagittal and metopic) several years following surgical correction, and 2) whether the pattern of differences varies by affected suture (sagittal or metopic)...
February 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28123344/deformed-skull-morphology-is-caused-by-the-combined-effects-of-the-maldevelopment-of-calvarias-cranial-base-and-brain-in-fgfr2-p253r-mice-mimicking-human-apert-syndrome
#5
Fengtao Luo, Yangli Xie, Wei Xu, Junlan Huang, Siru Zhou, Zuqiang Wang, Xiaoqing Luo, Mi Liu, Lin Chen, Xiaolan Du
Apert syndrome (AS) is a common genetic syndrome in humans characterized with craniosynostosis. Apert patients and mouse models showed abnormalities in sutures, cranial base and brain, that may all be involved in the pathogenesis of skull malformation of Apert syndrome. To distinguish the differential roles of these components of head in the pathogenesis of the abnormal skull morphology of AS, we generated mouse strains specifically expressing mutant FGFR2 in chondrocytes, osteoblasts, and progenitor cells of central nervous system (CNS) by crossing Fgfr2(+/P253R-Neo) mice with Col2a1-Cre, Osteocalcin-Cre (OC-Cre), and Nestin-Cre mice, respectively...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28121881/the-severity-of-deformity-in-metopic-craniosynostosis-is-correlated-with-the-degree-of-neurologic-dysfunction
#6
Jenny F Yang, Eric D Brooks, Peter W Hashim, Hannah S Reuman, Roberto Travieso, Jordan Terner, Linda C Mayes, Derek M Steinbacher, John A Persing, James C McPartland
BACKGROUND: In recent years, metopic synostosis has represented up to 25 percent of all nonsyndromic craniosynostosis cases, manifesting with varying degrees of trigonocephaly. It is unknown whether the degree of severity of anterior dysmorphology is proportionate to neurologic dysfunction. This knowledge is essential to guide future surgical treatment recommendations. Given the reported correlation of abnormal auditory processing with future language dysfunction and poorer academic performance in craniosynostosis patients, the present study aims to evaluate auditory processing in preoperative patients with moderate and severe metopic synostosis, and in control infants, to discern the neurologic risk carried by different severities of trigonocephaly...
February 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28087338/auditory-hindbrain-atrophy-and-anomalous-calcium-binding-protein-expression-after-neonatal-exposure-to-monosodium-glutamate
#7
Lindsey Foran, Kaitlyn Blackburn, Randy J Kulesza
Glutamate is the most abundant excitatory neurotransmitter in the central nervous system, and is stored and released by both neurons and astrocytes. Despite the important role of glutamate as a neurotransmitter, elevated extracellular glutamate can result in excitotoxicity and apoptosis. Monosodium glutamate (MSG) is a naturally occurring sodium salt of glutamic acid that is used as a flavor enhancer in many processed foods. Previous studies have shown that MSG administration during the early postnatal period results in neurodegenerative changes in several forebrain regions, characterized by neuronal loss and neuroendocrine abnormalities...
March 6, 2017: Neuroscience
https://www.readbyqxmd.com/read/28050601/progeroid-syndrome-patients-with-zmpste24-deficiency-could-benefit-when-treated-with-rapamycin-and-dimethylsulfoxide
#8
Baris Akinci, Shireesha Sankella, Christopher Gilpin, Keiichi Ozono, Abhimanyu Garg, Anil K Agarwal
Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A. Dermal fibroblasts from these patients show increased nuclear dysmorphology and reduced proliferation; however, the efficacy of various pharmacological agents in reversing these cellular phenotypes remains unknown. In this study, fibroblasts from MADB patients exhibited marked nuclear abnormalities and reduced proliferation that improved upon treatment with rapamycin and dimethylsulfoxide but not with other agents, including farnesyl transferase inhibitors...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#9
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28018436/chromosome-11q13-deletion-syndrome
#10
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/28005777/virtual-surgery-planning-in-orthomorphic-correction-of-mandibular-dysmorphology
#11
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...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28002528/redundant-plantar-skin-folds
#12
Laura Otilia Damian, Siao Pin Simon, Ioana Felea, Carolina Botar-Jid, Bogdan Stancu, Liliana Rogojan, Cristina Ana Maria Pamfil, Adriana Albu, Simona Rednic
A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27959934/mice-with-an-n-ethyl-n-nitrosourea-enu-induced-tyr209asn-mutation-in-natriuretic-peptide-receptor-3-npr3-provide-a-model-for-kyphosis-associated-with-activation-of-the-mapk-signaling-pathway
#13
Christopher T Esapa, Sian E Piret, M Andrew Nesbit, Nellie Y Loh, Gethin Thomas, Peter I Croucher, Matthew A Brown, Steve D M Brown, Roger D Cox, Rajesh V Thakker
Non-syndromic kyphosis is a common disorder that is associated with significant morbidity and has a strong genetic involvement; however, the causative genes remain to be identified, as such studies are hampered by genetic heterogeneity, small families and various modes of inheritance. To overcome these limitations, we investigated 12 week old progeny of mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) using phenotypic assessments including dysmorphology, radiography, and dual-energy X-ray absorptiometry...
2016: PloS One
https://www.readbyqxmd.com/read/27959899/effects-of-in-utero-thyroxine-exposure-on-murine-cranial-suture-growth
#14
R Nicole Howie, Emily L Durham, Laurel Black, Grace Bennfors, Trish E Parsons, Mohammed E Elsalanty, Jack C Yu, Seth M Weinberg, James J Cray
Large scale surveillance studies, case studies, as well as cohort studies have identified the influence of thyroid hormones on calvarial growth and development. Surveillance data suggests maternal thyroid disorders (hyperthyroidism, hypothyroidism with pharmacological replacement, and Maternal Graves Disease) are linked to as much as a 2.5 fold increased risk for craniosynostosis. Craniosynostosis is the premature fusion of one or more calvarial growth sites (sutures) prior to the completion of brain expansion...
2016: PloS One
https://www.readbyqxmd.com/read/27934915/the-defining-dna-methylation-signature-of-floating-harbor-syndrome
#15
Rebecca L Hood, Laila C Schenkel, Sarah M Nikkel, Peter J Ainsworth, Guillaume Pare, Kym M Boycott, Dennis E Bulman, Bekim Sadikovic
Floating-Harbor syndrome (FHS) is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive language impairment, and unique facial dysmorphology. We previously identified mutations in the chromatin remodeling protein SRCAP (SNF2-related CBP Activator Protein) as the cause of FHS. SRCAP has multiple roles in chromatin and transcriptional regulation; however, specific epigenetic consequences of SRCAP mutations remain to be described. Using high resolution genome-wide DNA methylation analysis, we identified a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of individuals with FHS...
December 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#16
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27906623/orotate-orotic-acid-an-essential-and-versatile-molecule
#17
M Löffler, E A Carrey, E Zameitat
Orotate (OA) is well-known as a precursor in biosynthesis of pyrimidines; in mammals it is released from the mitochondrial dihydroorotate dehydrogenase (DHODH) for conversion to UMP by the cytoplasmic UMP synthase enzyme. OA is also a normal part of the diet, being found in milk and dairy products, and it is converted to uridine for use in the pyrimidine salvage pathway predominantly in liver, kidney and erythrocytes. Early research into nutrition identified orotate as "vitamin B13," and its use as a complex with organic cations or metal ions was promulgated in body-building, and in assisting therapies of metabolic syndromes...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27884274/50-years-ago-in-the-journal-of-pediatrics-dysmorphology-teratology
#18
Jennifer A Accardo
No abstract text is available yet for this article.
December 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27870340/developmental-and-evolutionary-significance-of-the-zygomatic-bone
#19
Yann Heuzé, Kazuhiko Kawasaki, Tobias Schwarz, Jeffrey J Schoenebeck, Joan T Richtsmeier
The zygomatic bone is derived evolutionarily from the orbital series. In most modern mammals the zygomatic bone forms a large part of the face and usually serves as a bridge that connects the facial skeleton to the neurocranium. Our aim is to provide information on the contribution of the zygomatic bone to variation in midfacial protrusion using three samples; humans, domesticated dogs, and monkeys. In each case, variation in midface protrusion is a heritable trait produced by one of three classes of transmission: localized dysmorphology associated with single gene dysfunction, selective breeding, or long-term evolution from a common ancestor...
December 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/27870114/the-molecular-genetics-of-autosomal-recessive-nonsyndromic-intellectual-disability-a-mutational-continuum-and-future-recommendations
#20
REVIEW
Muzammil Ahmad Khan, Saadullah Khan, Christian Windpassinger, Muhammad Badar, Zafar Nawaz, Ramzi M Mohammad
Intellectual disability (ID) is a clinical manifestation of the central nervous system without any major dysmorphologies of the brain. Biologically it affects learning capabilities, memory, and cognitive functioning. The basic defining features of ID are characterized by IQ<70, age of onset before 18 years, and impairment of at least two of the adaptive skills. Clinically it is classified in a syndromic (with additional abnormalities) and a nonsyndromic form (with only cognitive impairment). The study of nonsyndromic intellectual disability (NSID) can best explain the pathophysiology of cognition, intelligence and memory...
November 2016: Annals of Human Genetics
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