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craniofacial malformation

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https://www.readbyqxmd.com/read/29239768/phenotypic-spectrum-of-tessier-facial-cleft-number-5
#1
Caroline Racz, Stéphanie Dakpé, Natacha Kadlub, Sylvie Testelin, Bernard Devauchelle, Martin Rachwalski, Arnaud Picard
INTRODUCTION: Craniofacial clefts belong to the most disfiguring and rare congenital malformations of the face and among these, orbito-facial clefts constitute approximately 0.22 % of the cases with Tessier cleft number 5 being the least common. Our aim was to define the phenotypic spectrum for this subgroup to improve clinical management. METHODS: Our study group consisted of four patients which were treated at two different cleft centers. Retrospective chart review and anatomical analysis were conducted for each patient based on clinical evaluation and imaging studies...
October 27, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29232056/associations-between-laterality-of-orofacial-clefts-and-medical-and-academic-outcomes
#2
Emily R Gallagher, Babette Siebold, Brent R Collett, Timothy C Cox, Verena Aziz, Michael L Cunningham
Patients with oral clefts have an increased risk of other malformations, syndromes, and lower academic performance in school. Few studies have investigated if laterality of clefts is associated with medical and academic outcomes. Oral clefts have nonrandom laterality, with left-sided clefts occurring approximately twice as often as right-sided clefts. Using a retrospective study design, we examined potential associations of cleft attributes and outcomes in patients with cleft lip with or without cleft palate (CL/P) born in 2003-2010 who were treated at the Seattle Children's Craniofacial Center...
December 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29217065/orthognathic-considerations-of-vascular-malformations
#3
REVIEW
Luis Delgado, Avanti Verma, Teresa M O, Stuart Super
Vascular malformations affect the craniofacial skeleton in many ways, depending on the type of the lesion and its location. The lesions may exert a mass effect and cause thinning or thickening of the bone or cause expansion from direct bony infiltration. Orthognathic surgery can be used to correct any malocclusion or open bite deformities after the soft tissues are addressed.
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29215449/seasonal-variation-of-orofacial-clefts
#4
Chrysis Sofianos, Efthimios A Christofides, Sibusiso E Phiri
BACKGROUND: Orofacial clefts represent the most common craniofacial malformation diagnosed at birth and may be divided into isolated cleft lip (CL), cleft lip and palate (CL/P), or isolated cleft palate (CP). The causes of orofacial clefts have long been understood to be multifactorial; however, research into the genetic and environmental factors underpinning these disorders in African populations is scant. Seasonal variation in the occurrence of orofacial clefts was investigated. Seasonal variation is defined as differences due to periodic, temporal, and external influences, namely the particular time or season of the year...
December 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29198722/a-recurrent-de-novo-nonsense-variant-in-zswim6-results-in-severe-intellectual-disability-without-frontonasal-or-limb-malformations
#5
Elizabeth E Palmer, Raman Kumar, Christopher T Gordon, Marie Shaw, Laurence Hubert, Renee Carroll, Marlène Rio, Lucinda Murray, Melanie Leffler, Tracy Dudding-Byth, Myriam Oufadem, Seema R Lalani, Andrea M Lewis, Fan Xia, Allison Tam, Richard Webster, Susan Brammah, Francesca Filippini, John Pollard, Judy Spies, Andre E Minoche, Mark J Cowley, Sarah Risen, Nina N Powell-Hamilton, Jessica E Tusi, LaDonna Immken, Honey Nagakura, Christine Bole-Feysot, Patrick Nitschké, Alexandrine Garrigue, Geneviève de Saint Basile, Emma Kivuva, Richard H Scott, Augusto Rendon, Arnold Munnich, William Newman, Bronwyn Kerr, Claude Besmond, Jill A Rosenfeld, Jeanne Amiel, Michael Field, Jozef Gecz
A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C>T [p.Arg913Ter]) in the penultimate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and peripheral nervous system symptoms but an absence of frontonasal or limb malformations...
November 23, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29197888/congenital-arhinia-first-published-case-in-malaysia
#6
R L Ng, K Rajapathy, Z Ishak
Congenital arhinia is one of the rare craniofacial malformation that may cause severe respiratory distress at birth due to upper airway obstruction. Our patient, whose abnormalities were only detected after delivery in our centre, is the first reported case of congenital arhinia in Malaysia. Contrary to popular belief that neonates are obligate nasal breather, our patient adapted well to breathing through mouth before an elective tracheostomy was performed on day four of life.
October 2017: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/29179815/charge-syndrome-modeling-using-patient-ipscs-reveals-defective-migration-of-neural-crest-cells-harboring-chd7-mutations
#7
Hironobu Okuno, Francois Renault Mihara, Shigeki Ohta, Kimiko Fukuda, Kenji Kurosawa, Wado Akamatsu, Tsukasa Sanosaka, Jun Kohyama, Kanehiro Hayashi, Kazunori Nakajima, Takao Takahashi, Joanna Wysocka, Kenjiro Kosaki, Hideyuki Okano
CHARGE syndrome is caused by heterozygous mutations in the chromatin remodeler, CHD7, and is characterized by a set of malformations that, on clinical grounds, were historically postulated to arise from defects in neural crest formation during embryogenesis. To better delineate neural crest defects in CHARGE syndrome, we generated induced pluripotent stem cells (iPSCs) from two patients with typical syndrome manifestations, and characterized neural crest cells differentiated in vitro from these iPSCs (iPSC-NCCs)...
November 28, 2017: ELife
https://www.readbyqxmd.com/read/29162437/mouse-model-of-alagille-syndrome-and-mechanisms-of-jagged1-missense-mutations
#8
Emma R Andersson, Indira V Chivukula, Simona Hankeova, Marika Sjöqvist, Yat Long Tsoi, Daniel Ramsköld, Jan Masek, Aiman Elmansuri, Anita Hoogendoorn, Elenae Vazquez, Helena Storvall, Julie Netušilová, Meritxell Huch, Björn Fischler, Ewa Ellis, Adriana Contreras, Antal Nemeth, Kenneth C Chien, Hans Clevers, Rickard Sandberg, Vitezslav Bryja, Urban Lendahl
BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by cholestasis, ocular abnormalities, characteristic facial features, heart defects, and vertebral malformations. Most cases are associated with mutations in JAGGED1 (JAG1), which encodes a Notch ligand, although it is not clear how these contribute to disease development. We aimed to develop a mouse model of Alagille syndrome to elucidate these mechanisms. METHODS: Mice with a missense mutation (H268Q) in Jag1 (Jag1(+)/(Ndr) mice) were outbred to a C3H/C57bl6 background to generate a mouse model for Alagille syndrome (Jag1(Ndr/Ndr) mice)...
November 18, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29159925/the-use-of-micro-ct-imaging-to-examine-and-illustrate-fetal-skeletal-abnormalities-in-dutch-belted-rabbits-and-to-prove-concordance-with-alizarin-red-stained-skeletal-examination
#9
Howard M Solomon, Stacia Murzyn, Joyce Rendemonti, Sharon Chapman, Tinamarie Skedzielewski, Beat M Jucker, Dinesh Stanislaus, Hasan Alsaid
OBJECTIVES: In our laboratory we evaluated the use of micro-computed tomography (micro-CT) using a high resolution acquisition protocol and fetuses obtained on Gestation Day (GD) 29 (mating = GD 0). METHODS: To show concordance between traditional Alizarin Red S stain and micro-CT skeletal examination methods, 103 fetuses from 19 untreated Dutch belted rabbits were obtained by cesarean section and stored frozen. The fetuses were thawed, imaged and examined digitally by micro-CT, then stained and re-examined using traditional methods...
November 21, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/29149498/association-between-a-single-nucleotide-polymorphism-in-the-grem1-gene-and-nonsyndromic-orofacial-cleft-in-the-chinese-population
#10
Xiaotong Wang, Hongquan Song, Xiaohui Jiao, Yanru Hao, Wei Zhang, Yuwei Gao, Yong Li, Na Mi, Jiaqun Yan
BACKGROUND: Nonsyndromic orofacial cleft (NSOC) is a common craniofacial deformity among newborns. The GREM1 gene is correlated with orofacial development. The aim of our study was to investigate the association between a single-nucleotide polymorphism in the GREM1 gene and this malformation in the Chinese population. METHODS: The SNaPshot mini sequencing technique was used to genotype the locus rs1258763 of the GREM1 gene in 331 patients with NSOC and 271 individuals in a control group...
November 17, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29142173/effect-of-dibutyltin-on-placental-and-fetal-toxicity-in-rat
#11
Satoshi Furukawa, Naho Tsuji, Yoshiyuki Kobayashi, Yoshikazu Yamagishi, Seigo Hayashi, Masayoshi Abe, Yusuke Kuroda, Masayuki Kimura, Chisato Hayakawa, Akihiko Sugiyama
In order to elucidate the effect of chorioallantoic and yolk sac placenta on the embryonic/fetal toxicity in dibutyltin dichloride (DBTCl)-exposed rats, we examined the histopathological changes and the tissue distribution of dibutyltin in the placentas and embryos. DBTCl was orally administered to the groups at doses of 0 mg/kg during gestation days (GD)s 7-9 (control group) and 20 mg/kg during GDs 7-9 (GD7-9 treated group), and GDs 10-12 (GD10-12 treated group). The total fetal mortality was increased, and malformations characterized by craniofacial dysmorphism were detected in the GD7-9 treated group...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#12
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#13
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29128566/restoration-of-polr1c-in-early-embryogenesis-rescues-the-type-3-treacher-collins-syndrome-facial-malformation-phenotype-in-zebrafish
#14
Ernest Man Lok Kwong, Jeff Cheuk Hin Ho, Marco Chi Chung Lau, May-Su You, Yun-Jin Jiang, William Ka Fai Tse
Treacher Collins Syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. Recently, our group unfolded the pathogenesis of polr1c Type 3 TCS by using the zebrafish model. Facial development depends on the neural crest cells, in which polr1c plays a role in regulating its expression. In this report, we aim to identify the functional time window of polr1c in TCS by the use of photo-morpholino to restore the polr1c expression at different time points...
November 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29115005/pten-regulates-neural-crest-proliferation-and-differentiation-during-mouse-craniofacial-development
#15
Tianfang Yang, Matthew Moore, Fenglei He
Background The Phosphatase and tensin homolog deleted on chromosome TEN (Pten) is implicated in a broad range of developmental events and diseases. However, its role in neural crest and craniofacial development has not been well illustrated. Results Using genetically engineered mouse models, we showed that inactivating Pten specifically in neural crest cells causes malformation of craniofacial structures. Pten conditional knockout mice exhibit perinatal lethality with overgrowth of craniofacial structures. At cellular level, Pten deficiency increases cell proliferation rate and enhances osteoblast differentiation...
November 8, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/29114430/clinical-and-radiographic-features-of-parry-romberg-syndrome
#16
Mithula Nair, Vidya Ajila, Shruthi Hegde, G Subhas Babu, Rumela Ghosh
Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months...
2017: Journal of Istanbul University Faculty of Dentistry
https://www.readbyqxmd.com/read/29105381/early-gestational-hypoxia-and-adverse-developmental-outcomes
#17
REVIEW
Helen E Ritchie, Diana J Oakes, Debra Kennedy, Jaimie W Polson
Hypoxia is a normal and essential part of embryonic development. However, this state may leave the embryo vulnerable to damage when oxygen supply is disturbed. Embryofetal response to hypoxia is dependent on duration and depth of hypoxia, as well as developmental stage. Early postimplantation rat embryos were resilient to hypoxia, with many surviving up to 1.5 hr of uterine clamping, while most mid-gestation embryos were dead after 1 hour of clamping. Survivors were small and many had a range of defects, principally terminal transverse limb reduction defects...
October 16, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/29069552/-i-xenopus-i-embryos-to-study-fetal-alcohol-syndrome-a-model-for-environmental-teratogenesis
#18
Abraham Fainsod, Hadas Kot-Leibovich
Vertebrate model systems are central to characterize the outcomes of ethanol exposure and the etiology of Fetal Alcohol Spectrum Disorder (FASD), taking advantage of their genetic and morphological closeness and similarity to humans. We discuss the contribution of amphibian embryos to FASD research, focusing on <i>Xenopus</i> embryos. The <i>Xenopus</i> experimental system is characterized by external development and accessibility throughout embryogenesis, large clutch sizes, gene and protein activity manipulation, transgenesis and genome editing, convenient chemical treatment, explants and conjugates and many other experimental approaches...
October 25, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#19
Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu, Peter White
BACKGROUND: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/29036646/de-novo-deleterious-sequence-variants-that-alter-the-transcriptional-activity-of-the-homeoprotein-pbx1-are-associated-with-intellectual-disability-and-pleiotropic-developmental-defects
#20
Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C Herkert, Alexander P A Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O Szot, Gavin Chapman, Nicholas S Pachter, David S Winlaw, Bryce A Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter I Karachunski, Jane M Lewis, Helio Pedro, Sally L Dunwoodie, Licia Selleri, Joseph Shieh
We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate target gene transcription during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, and gonads...
September 22, 2017: Human Molecular Genetics
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