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craniofacial malformation

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https://www.readbyqxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#1
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
#2
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
https://www.readbyqxmd.com/read/29016128/acute-toxicity-teratogenic-and-estrogenic-effects-of-bisphenol-a-and-its-alternative-replacements-bisphenol-s-bisphenol-f-and-bisphenol-af-in-zebrafish-embryo-larvae
#3
John Moreman, Okhyun Lee, Maciej Trznadel, Arthur David, Tetsuhiro Kudoh, Charles R Tyler
Bisphenol A (BPA), a chemical incorporated into plastics and resins, has estrogenic activity and is associated with adverse health effects in humans and wildlife. Similarly-structured BPA analogues are widely used but far less is known about their potential toxicity or estrogenic activity in vivo. We undertook the first comprehensive analysis on the toxicity and teratogenic effects of the bisphenols BPA, BPS, BPF and BPAF in zebrafish embryo-larvae and an assessment on their estrogenic mechanisms in an estrogen-responsive transgenic fish Tg(ERE:Gal4ff)(UAS:GFP)...
October 10, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28973381/treacher-collins-syndrome-mutations-in-saccharomyces-cerevisiae-destabilizes-rna-polymerase-i-and-iii-complex-integrity
#4
Nancy Walker-Kopp, Ashleigh J Jackobel, Gianno N Pannafino, Paola A Morocho, Xia Xu, Bruce A Knutson
Treacher Collins syndrome (TCS) is a craniofacial disorder that is characterized by the malformation of the facial bones. Mutations in three genes (TCOF1, POLR1C, and POLR1D) involved in RNA polymerase I (Pol I) transcription account for more than 90% of disease cases. Two of these TCS-associated genes, POLR1C and POLR1D, encode for essential Pol I/III subunits that form a heterodimer necessary for Pol I/III assembly, and many TCS mutations lie along their evolutionarily conserved dimerization interface. Here we elucidate the molecular basis of TCS mutations in S...
August 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28973288/novel-foxa2-mutation-causes-hyperinsulinism-hypopitutarism-with-craniofacial-and-endoderm-derived-organ-abnormalities
#5
Dinesh Giri, Maria Lillina Vignola, Angelica Gualtieri, Valeria Scagliotti, Paul McNamara, Matthew Peak, Mohammed Didi, Carles Gaston-Massuet, Senthil Senniappan
Congenital hypopituitarism(CH) is characterised by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism(CHI) is a disorder of unregulated insulin secretion despite hypoglycemia that can occur in isolation or as part of a wider syndrome. Molecular diagnosis is unknown in many cases of CH and CHI. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown. In this study, we identified a de novo heterozygous mutation in the developmental transcription factor, forkhead box A2, FOXA2 (c...
August 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28946786/preaxial-polydactyly-of-the-foot
#6
Elise B Burger, Martijn Baas, Steven E R Hovius, A Jeannette M Hoogeboom, Christianne A van Nieuwenhoven
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review was based on the Human Phenotype Ontology (HPO) project. From the HPO dataset, all phenotypes describing preaxial polydactyly were obtained and related diseases were identified and selected...
September 26, 2017: Acta Orthopaedica
https://www.readbyqxmd.com/read/28944239/analysis-of-sequence-data-to-identify-potential-risk-variants-for-oral-clefts-in-multiplex-families
#7
Emily R Holzinger, Qing Li, Margaret M Parker, Jacqueline B Hetmanski, Mary L Marazita, Elisabeth Mangold, Kerstin U Ludwig, Margaret A Taub, Ferdouse Begum, Jeffrey C Murray, Hasan Albacha-Hejazi, Khalid Alqosayer, Giath Al-Souki, Abdullatiff Albasha Hejazi, Alan F Scott, Terri H Beaty, Joan E Bailey-Wilson
BACKGROUND: Nonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. Previous genome-wide association (GWAS) studies have identified multiple loci with small effects; however, many causal variants remain elusive. METHODS: In this study, we address this by specifically looking for rare, potentially damaging variants in family-based data...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28941966/otologic-disorders-in-turner-syndrome
#8
E Bois, M Nassar, D Zenaty, J Léger, T Van Den Abbeele, N Teissier
INTRODUCTION: Patients with Turner syndrome (TS) have craniofacial malformations, such as Eustachian tube hypoplasia and dysfunction and velar dysfunction, which foster acute otitis media. The aim of this study was to inventory pediatric otologic disorders in patients with TS at their first ENT consultation in our center. PATIENTS AND METHODS: We reviewed the ENT consultation data of pediatric TS patients followed in our center between 2005 and 2015: otoscopy, hearing threshold, and history of acute otitis media or ENT surgery...
September 20, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28930929/avoidance-of-tracheostomy-using-mandibular-distraction-in-an-infant-with-severe-condylar-dysplasia-and-airway-obstruction
#9
Anthony J Archual, Jonathan S Black
Craniofacial microsomia (CFM) is a common craniofacial anomaly characterized by asymmetric malformation of the mandible, ear, and other structures including the upper airway. The degree of mandibular hypoplasia is classified using a scheme developed by Pruzansky and modified by Kaban. Severe condylar dysplasia is the hallmark of Pruzansky-Kaban types IIB and III. Distraction osteogenesis has emerged as a treatment modality for mandibular hypoplasia in this setting for the treatment of asymmetry and airway obstruction...
September 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#10
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28910311/hearing-impairment-in-premature-newborns-analysis-based-on-the-national-hearing-screening-database-in-poland
#11
Katarzyna Wroblewska-Seniuk, Grazyna Greczka, Piotr Dabrowski, Joanna Szyfter-Harris, Jan Mazela
OBJECTIVES: The incidence of sensorineural hearing loss is between 1 and 3 per 1000 in healthy neonates and 2-4 per 100 in high-risk infants. The national universal neonatal hearing screening carried out in Poland since 2002 enables selection of infants with suspicion and/or risk factors of hearing loss. In this study, we assessed the incidence and risk factors of hearing impairment in infants ≤33 weeks' gestational age (wga). METHODS: We analyzed the database of the Polish Universal Newborns Hearing Screening Program from 2010 to 2013...
2017: PloS One
https://www.readbyqxmd.com/read/28893947/small-molecule-wnt-agonists-correct-cleft-palates-in-pax9-mutant-mice-in-utero
#12
Shihai Jia, Jing Zhou, Christopher Fanelli, Yinshen Wee, John Bonds, Pascal Schneider, Gabriele Mues, Rena N D'Souza
Clefts of the palate and/or lip are the most common among human craniofacial malformations and involve multiple genetic and environmental factors. Defects can only be corrected surgically and require complex life-long treatments. Our studies utilized the well-characterized Pax9(-/-) mouse model with a consistent cleft palate phenotype to test small-molecule Wnt agonist therapies. We first show that the absence of Pax9 alters the expression of Wnt pathway genes including Dkk1 and Dkk2, proven antagonists of Wnt signaling...
September 11, 2017: Development
https://www.readbyqxmd.com/read/28834840/osseous-flap-of-galea-and-periosteum-filled-with-mesenchymal-stem-cells-platelet-rich-plasma-bone-dust-and-hyaluronic-acid
#13
Ryane Schmidt Brock, Fausto Viterbo, Elenice Deffune, Maria Aparecida Custodio Domingues, Maria Jaqueline Mamprim, Eloisa Elena Paschoalinotte
Reconstructive surgery to craniofacial deformities caused by tumor ressections, traumas or congenital malformation are frequent in medicine practice. It aims to provide the patients with better quality of life and functional improvement of speech, breathing, chewing, and swallowing. Many are the techniques described in the literature to recover bone defects. This study evaluated a vascularized galeal and periosteum flap in rabbits, which could possibly substitute the bone graft in reconstructive surgery, especially for facial defects...
October 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28809041/complex-malformations-involving-the-fetal-body-wall-definition-and-classification-issues
#14
Julia Bijok, Diana Massalska, Anna Kucińska-Chahwan, Anna Posiewka, Alicja Ilnicka, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVE: To analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the body wall in a large cohort of fetuses with regard to different definitions proposed in the literature. METHOD: A retrospective study on 96 fetuses with complex malformations comprising ventral wall, craniofacial structures, limbs and umbilical cord that were evaluated between 1997 and 2015. RESULTS: The most common sonographic finding was an extensive ventral wall defect (95...
August 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28783116/teratogenic-effects-of-topiramate-in-a-zebrafish-model
#15
Yu-Heng Lai, Yu-Ju Ding, David Moses, Yau-Hung Chen
Topiramate is commonly used for treating epilepsy in both children and adults. Recent clinical data suggests that administration of topiramate to women during pregnancy increases the risk of oral clefts in their offspring. To better understand the potential effects of topiramate, we dosed adult female zebrafish with topiramate, and investigated the altered morphologies in adult females and their offspring. It showed that topiramate-treated female fish had reduced oocyte maturation, and the survival rates of their offspring were seriously decreased during embryogenesis...
August 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28771384/vax1-plays-an-indirect-role-in-the-etiology-of-murine-cleft-palate
#16
F Geoghegan, G M Xavier, A A Birjandi, M Seppala, M T Cobourne
Cleft lip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malformations with a complex etiology that reflects a failure of normal facial development. VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP. We have investigated Vax1 function during murine palatogenesis but found no evidence for a direct role in this process...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#17
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28766118/dental-and-craniofacial-findings-in-91-individuals-with-agenesis-of-permanent-maxillary-canines
#18
K P Arvedsen, I Kjær
AIM: Agenesis of maxillary permanent canines is a rare form of agenesis (prevalence 0.07-0.13%). The aetiology is still unknown. The purpose was to focus on dentitions and craniofacial profiles in individuals with maxillary canine agenesis. METHOD: From 91 individuals (10-18 years of age) 91 Orthopantomograms and 77 profile radiographs were divided accordingly: Group I: agenesis of 1 or 2 maxillary canines. Group II: several ageneses including the maxillary canines...
August 1, 2017: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28757931/new-insights-in-orofacial-cleft-epidemiological-and-genetic-studies-on-italian-samples
#19
L Tettamanti, A Avantaggiato, M Nardone, A Palmieri, A Tagliabue
Cleft of the lip and/or palate (CL±P) is the most common congenital craniofacial anomaly affecting around 1 in 700 live births worldwide. Clefts of the human face can be classified anatomically as cleft lip only (CL), cleft palate only (CP), cleft lip and palate (CLP) or a combined group of cleft lip with or without cleft palate (CL±P), based on differences in embryologic development. CL±P has a genetic base and several linkage and association analyses have been performed in order to obtain important information about the role of candidate genes in its onset; not less important are gene-environment interactions that play an increasing role in its aetiology...
January 2017: Oral & Implantology
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#20
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
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