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https://www.readbyqxmd.com/read/29453776/syndromic-sebaceous-nevus-current-findings
#1
Oumama El Ezzi, Anthony S de Buys Roessingh, Michèle Bigorre, Guillaume Captier
BACKGROUND: Sebaceous nevus is a congenital malformation of the skin that usually occurs on the scalp or face. Syndromic forms do rarely exist with associated cerebral and ocular malformations. The skin lesions are pale at birth and become irregular by puberty. In the adult patient, tumors (usually benign) develop from sebaceous nevus. Their surgical excision during childhood can give a better result in terms of the definitive scar. OBJECTIVES: The aim of this study is to analyze our cases of syndromic sebaceous hamartoma, perform a review of the existing literature, and propose guidelines for the therapeutic plan...
February 16, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29447811/sensorineural-and-conductive-hearing-loss-in-infants-diagnosed-in-the-program-of-universal-newborn-hearing-screening
#2
Katarzyna Wroblewska-Seniuk, Piotr Dabrowski, Grazyna Greczka, Katarzyna Szabatowska, Agata Glowacka, Witold Szyfter, Jan Mazela
OBJECTIVE: The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. MATERIAL AND METHODS: A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. RESULTS: 27 935 infants were covered by the universal neonatal hearing screening program...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29445918/persistent-craniopharyngeal-canal-bilateral-microphthalmia-with-colobomatous-cysts-ectopic-adenohypophysis-with-rathke-cleft-cyst-and-ectopic-neurohypophysis-case-report-and-review-of-the-literature
#3
Nazlı Gülsüm Akyel, Ayşe Gül Alımlı, Tülin Hakan Demirkan, Mesut Sivri
INTRODUCTION: Persistent craniopharyngeal canal (PCC) is a rare anomaly of the base of the skull. PCC is defined as a well-corticated osseous canal, extending from the roof of the nasopharynx to the base of the sella over the course of the sphenoid corpus. We reported a PCC case with unique associations. The magnetic resonance imaging findings are discussed. CASE PRESENTATION: We report a case of a 2-year-old boy with persistent craniopharyngeal canal, bilateral microphtalmia with large colobomatous cyst, and ectopic adenohypophysis with Rathke cleft cyst...
February 14, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29397922/the-effects-of-different-preservation-methods-on-ide-leuciscus-idus-sperm-and-the-longevity-of-sperm-movement
#4
G Bernáth, Zs Csenki, Z Bokor, L Várkonyi, J Molnár, T Szabó, Á Staszny, Á Ferincz, K Szabó, B Urbányi, L O Pap, B Csorbai
The present study investigated the effects of chilled storage and cryopreservation on ide sperm motility and fertilizing capacity alongside the longevity of sperm movement. The parameters of motility (progressive motility-pMOT, curvilinear velocity-VCL and straightness-STR) have been recorded during 48 h of chilled storage (4 °C) at 24-h intervals. The longevity of sperm movement was measured following activation for up to 120 s (in a range at 10-120 s) in freshly stripped and thawed sperm. A formerly established cryopreservation method was tested on ide sperm where motility parameters, hatching rate and larval malformation (according to 7 category groups) were investigated...
January 31, 2018: Cryobiology
https://www.readbyqxmd.com/read/29381487/mandibulofacial-dysostosis-guion-almeida-type-caused-by-novel-eftud2-splice-site-variants-in-two-asian-children
#5
Kris P T Yu, Ho-Ming Luk, Christopher T Gordon, Genevieve Fung, Myriam Oufadem, Maria M Garcia-Barcelo, Jeanne Amiel, Brian H Y Chung, Ivan F M Lo, Yang Tan Tiong
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Heterozygous mutations in the elongation factor Tu GTP-binding domain containing 2 (EFTUD2) gene have been shown to result in MFDGA...
January 29, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29370535/effects-of-prenatal-alcohol-exposure-pae-insights-into-fasd-using-pae-mouse-models
#6
Berardino Petrelli, Joanne Weinberg, Geoffrey G Hicks
The potential impact of prenatal alcohol exposure (PAE) varies considerably among exposed individuals, with some displaying serious alcohol-related effects and others showing few or even no overt signs of a fetal alcohol spectrum disorder (FASD). In animal models variables such as nutrition, genetic background, health, other drugs, and stress, as well as dosage, duration and gestational timing of alcohol exposure can all be controlled in a way not possible in a clinical situation. In this review we examine mouse PAE models and focus on those with demonstrated craniofacial malformations, abnormal brain development, or behavioural phenotypes that may be considered FASD-like outcomes...
January 25, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29368903/-anesthesic-management-during-total-organic-separation-of-pygopagus-conjoined-twins
#7
Mayra Lizeth Nava-Martínez, Enriqueta Macias-Miranda, Karla Guadalupe Lozada-Rosete, Juan José Dosta-Herrera
BACKGROUND: Conjoined twins are among the most rare and challenging congenital malformations. The incidence varies from 1:30 000 to 1:200 000 live births. Pygopagus twins account for about 10 to 18% of all conjoined twins. CLINICAL CASE: We report the case of male conjoined pygopagus twins. They shared medullary canal, anal canal and sacrococcygeal region, without any degree of cross circulation. At the moment of the surgery, twin 1 had congenital heart disease without medical treatment...
January 2018: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29364875/tissue-selective-effects-of-nucleolar-stress-and-rdna-damage-in-developmental-disorders
#8
Eliezer Calo, Bo Gu, Margot E Bowen, Fardin Aryan, Antoine Zalc, Jialiang Liang, Ryan A Flynn, Tomek Swigut, Howard Y Chang, Laura D Attardi, Joanna Wysocka
Many craniofacial disorders are caused by heterozygous mutations in general regulators of housekeeping cellular functions such as transcription or ribosome biogenesis. Although it is understood that many of these malformations are a consequence of defects in cranial neural crest cells, a cell type that gives rise to most of the facial structures during embryogenesis, the mechanism underlying cell-type selectivity of these defects remains largely unknown. By exploring molecular functions of DDX21, a DEAD-box RNA helicase involved in control of both RNA polymerase (Pol) I- and II-dependent transcriptional arms of ribosome biogenesis, we uncovered a previously unappreciated mechanism linking nucleolar dysfunction, ribosomal DNA (rDNA) damage, and craniofacial malformations...
January 24, 2018: Nature
https://www.readbyqxmd.com/read/29354594/surgical-correction-of-grade-iii-hypertelorism
#9
Ehtesham Ul Haq, Muhammad Umar Qayyum, Muhammad Iran Ilahı, Saadat Ali Janjua, Ayesha Aslam, Rubbab Zahra
Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29341488/gene-gene-interaction-between-msx1-and-tp63-in-asian-case-parent-trios-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#10
Dongjing Liu, Holger Schwender, Mengying Wang, Hong Wang, Ping Wang, Hongping Zhu, Zhibo Zhou, Jing Li, Tao Wu, Terri H Beaty
BACKGROUND: Small ubiquitin-like modification, also known as sumoylation, is a crucial post-translational regulatory mechanisms involved in development of the lip and palate. Recent studies reported two sumoylation target genes, MSX1 and TP63, to have achieved genome-wide level significance in tests of association with nonsyndromic clefts. Here, we performed a candidate gene analysis considering gene-gene and gene-environment interaction for SUMO1, MSX1, and TP63 to further explore the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P)...
January 17, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#11
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29330547/recessive-loss-of-function-pign-alleles-including-an-intragenic-deletion-with-founder-effect-in-la-r%C3%A3-union-island-in-patients-with-fryns-syndrome
#12
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M Campeau, Julien Thevenon
Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29326517/18p-deletion-syndrome-case-report-with-clinical-consideration-and-management
#13
Megha Goyal, Mayuri Jain, Sachin Singhal, Kirty Nandimath
18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29310616/partial-trisomy-16q21%C3%A2-qter-due-to-an-unbalanced-segregation-of-a-maternally-inherited-balanced-translocation-46-xx-t-15-16-p13-q21-a-case-report-and-review-of-literature
#14
R Mishra, C S Paththinige, N D Sirisena, S Nanayakkara, U G I U Kariyawasam, V H W Dissanayake
BACKGROUND: Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cases of partial trisomy 16q described in the scientific literature have reported only one, or less frequently two cardiac defects in the affected babies. Herein, we report a case of partial trisomy 16q21➔qter with multiple and complex cardiac defects that have not previously been reported in association with this condition...
January 8, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29308367/retinoic-acid-embryopathy
#15
Dipankar Mondal, Sreekanth R Shenoy, Santisena Mishra
Isotretinoin is a retinoid which is derived from Vitamin A. It is indicated for severe cystic acne treatment, but it has been classified as teratogenic. A wide spectrum of birth defects including craniofacial, heart, and nervous system malformations have been described with prenatal exposure to this drug. We report the case of a newborn with a history of prenatal exposure to isotretinoin with craniofacial defects, including left-sided anotia, right-sided microtia, complex congenital heart disease, and central nervous system malformation...
October 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29306033/a-glyphosate-micro-emulsion-formulation-displays-teratogenicity-in-xenopus-laevis
#16
Patrizia Bonfanti, M Saibene, R Bacchetta, P Mantecca, A Colombo
Glyphosate is the active ingredient in broad-spectrum herbicide formulations used in agriculture, domestic area and aquatic weed control worldwide. Its market is growing steadily concurrently with the cultivation of glyphosate-tolerant transgenic crops and emergence of weeds less sensitive to glyphosate. Ephemeral and lentic waters near to agricultural lands, representing favorite habitats for amphibian reproduction and early life-stage development, may thus be contaminated by glyphosate based herbicides (GBHs) residues...
December 24, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/29300383/genetic-analysis-of-charge-syndrome-identifies-overlapping-molecular-biology
#17
Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, John A Bernat, Marsha Wheeler, Jessica X Chong, Deborah Nickerson, Michael Bamshad, Margaret A Hefner, Donna M Martin, Stephanie L Bielas
PurposeCHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29260614/neuroimaging-findings-in-pallister-killian-syndrome
#18
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/29239768/phenotypic-spectrum-of-tessier-facial-cleft-number-5
#19
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...
January 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29232056/associations-between-laterality-of-orofacial-clefts-and-medical-and-academic-outcomes
#20
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
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