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craniofacial malformation

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https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#1
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895973/review-of-the-genetic-basis-of-jaw-malformations
#2
REVIEW
Mairaj K Ahmed, Xiaoqian Ye, Peter J Taub
Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. A number of genes play a role in the facial skeletal development and are regulated by a host of additional regulatory molecules...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895970/genetic-advances-in-microphthalmia
#3
REVIEW
Julie Plaisancie, Patrick Calvas, Nicolas Chassaing
Congenital ocular anomalies such as anophthalmia and microphthalmia (AM) are severe craniofacial malformations in human. The etiologies of these ocular globe anomalies are diverse but the genetic origin appears to be a predominant cause. Until recently, genetic diagnosis capability was rather limited in AM patients and only a few genes were available for routine genetic testing. While some issues remain poorly understood, knowledge regarding the molecular basis of AM dramatically improved over the last years with the development of new molecular screening technologies...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895969/genetic-advances-in-craniofacial-malformations
#4
Bryn D Webb, Peter J Taub
No abstract text is available yet for this article.
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27891566/sudden-death-associated-with-syndromic-craniosynostosis
#5
Alžbeta Ginelliová, Daniel Farkaš, Silvia Farkašová Iannaccone, Vlasta Vyhnálková, Peter Vasovčák
In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis...
November 28, 2016: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/27875510/facial-evaluation-in-holoprosencephaly
#6
Valentina Pucciarelli, Simona Bertoli, Marina Codari, Pierangelo Veggiotti, Alberto Battezzati, Chiarella Sforza
Holoprosencephaly (HPE) is a malformation of the brain, occurring during the first weeks of pregnancy, that may be associated with several craniofacial alterations and different pathological conditions.The authors describe a 2-year-old girl with lobar HPE, epilepsy, but with a roughly normal face. Despite the macroscopic, clinical appearance, a facial morphometric analysis, performed through a stereophotogrammetric system, showed features that diverge from reference subjects and that are considered typical of HPE...
November 21, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27869431/-deletion-on-the-short-arm-of-chromosome-18-syndrome-diagnosed-by-array-comparative-genomic-hybridization-presentation-of-one-case-with-a-mild-phenotype
#7
Harry Pachajoa
Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27863630/comparison-of-treatment-outcomes-between-intracapsular-and-total-tonsillectomy-for-pediatric-obstructive-sleep-apnea
#8
David T Chang, Allison Zemek, Peter J Koltai
BACKGROUND: Intracapsular tonsillectomy (IT) has been advocated as a treatment for pediatric obstructive sleep apnea (OSA). However, evidence in the literature utilizing polysomnography (PSG) is limited. OBJECTIVE: To examine the experience at a tertiary children's hospital to evaluate the effectiveness and risks of intracapsular tonsillectomy compared to total tonsillectomy (TT) for treating pediatric OSA. METHODS: A retrospective study was undertaken of pediatric tonsillectomy cases performed for OSA at a tertiary children's hospital from 2005 to 2010...
December 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27819746/monotherapy-treatment-of-epilepsy-in-pregnancy-congenital-malformation-outcomes-in-the-child
#9
REVIEW
Jennifer Weston, Rebecca Bromley, Cerian F Jackson, Naghme Adab, Jill Clayton-Smith, Janette Greenhalgh, Juliet Hounsome, Andrew J McKay, Catrin Tudur Smith, Anthony G Marson
BACKGROUND: There is evidence that certain antiepileptic drugs (AEDs) are teratogenic and are associated with an increased risk of congenital malformation. The majority of women with epilepsy continue taking AEDs throughout pregnancy; therefore it is important that comprehensive information on the potential risks associated with AED treatment is available. OBJECTIVES: To assess the effects of prenatal exposure to AEDs on the prevalence of congenital malformations in the child...
November 7, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27808268/identification-of-candidate-genes-for-congenital-heart-defects-on-proximal-chromosome-8p
#10
Tingting Li, Chunjie Liu, Yuejuan Xu, Qianqian Guo, Sun Chen, Kun Sun, Rang Xu
With the application of advanced molecular cytogenetic techniques, the number of patients identified as having abnormal chromosome 8p has increased progressively. Individuals with terminal 8p deletion have been extensively described in previous studies. The manifestations usually include cardiac anomalies, developmental delay/mental retardation, craniofacial abnormalities, and multiple other minor anomalies. However, some patients with proximal deletion also presented with similar phenotypic features. Here we describe a female child with an 18...
November 3, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27789975/peters-plus-anomaly-in-a-cameroonian-child-a-case-report
#11
Giles Kagmeni, Yannick Bilong, Cedric Mbogos, Lucienne Bella Assumpta
BACKGROUND: Peters' anomaly (PA) is a rare form of anterior segment dysgenesis characterized by corneal opacity with varied degree of anterior chamber affection with associated defects in the posterior layers of the cornea. CASE PRESENTATION: We report the case of a 3-month-old male infant with bilateral corneal opacity since birth who was transferred from the pediatric unit for further ophthalmic care. He was diagnosed with PA with subsequent systemic-associated malformations including craniofacial defects and skeletal defects...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27787648/cerebrofacial-arteriovenous-metameric-syndrome-cams-a-spectrum-disorder-of-craniofacial-vascular-malformations
#12
Lauren O'Loughlin, Mari L Groves, Neil R Miller, Monica S Pearl
Cerebrofacial arteriovenous metameric syndrome (CAMS) is a recent classification of vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region. Recognizing the embryologic basis of CAMS is important for diagnosing other AVMs along the same metameric level. Visual loss is the most common presentation prompting ophthalmologic evaluation followed by neuroimaging. We present two pediatric patients with ipsilateral optic nerve and chiasmal AVMs without cutaneous manifestations, characteristic of CAMS 2...
October 27, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27779662/chromosome-10q26-deletion-syndrome-two-new-cases-and-a-review-of-the-literature
#13
Shaobin Lin, Yi Zhou, Qun Fang, Jianzhu Wu, Zhiqiang Zhang, Yuanjun Ji, Yanmin Luo
The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis...
October 19, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27777068/exploring-the-developmental-mechanisms-underlying-wolf-hirschhorn-syndrome-evidence-for-defects-in-neural-crest-cell-migration
#14
REVIEW
Erin L Rutherford, Laura Anne Lowery
Wolf-Hirschhorn Syndrome (WHS) is a neurodevelopmental disorder characterized by mental retardation, craniofacial malformation, and defects in skeletal and heart development. The syndrome is associated with irregularities on the short arm of chromosome 4, including deletions of varying sizes and microduplications. Many of these genotypic aberrations in humans have been correlated with the classic WHS phenotype, and animal models have provided a context for mapping these genetic irregularities to specific phenotypes; however, there remains a significant knowledge gap concerning the cell biological mechanisms underlying these phenotypes...
December 1, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27777025/treacher-collins-syndrome-new-insights-from-animal-models
#15
William Ka Fai Tse
Treacher Collins syndrome (TCS, OMIM: 154500), an autosomal-dominant craniofacial developmental syndrome that occurs in 1 out of every 50,000 live births, is characterized by craniofacial malformation. Mutations in TCOF1, POLR1C, or POLR1D have been identified in affected individuals. In addition to established mouse models, zebrafish models have recently emerged as an valuable method to study facial disease. In this report, we summarized the two updated articles working on the pathogenesis of the newly identified polr1c and polr1d TCS mutations (Lau et al...
October 21, 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27761424/teratogenic-effects-of-silymarin-on-mouse-fetuses
#16
Mahbobe Gholami, Seyed Adel Moallem, Mohammad Afshar, Sakineh Amoueian, Leila Etemad, Gholamreza Karimi
OBJECTIVE: Silybum marianum has been used for centuries in herbal medicine for treatment of liver diseases. Currently, there is no data available on the possible effects of silymarin on fetal development. This study aimed to investigate the teratogenic effect of silymarin on BALB/c mice fetuses. MATERIALS AND METHODS: A total of 40 pregnant mice were divided into 4 groups of 10 mice each. Three groups received silymarin at three different doses of 50, 100 and 200 mg/kg/day during gestational days (GDs)...
September 2016: Avicenna Journal of Phytomedicine
https://www.readbyqxmd.com/read/27756487/advanced-airway-management-strategies-for-severe-osas-and-craniofacial-anomalies
#17
Anil Gungor
Pediatric OSAS and craniofacial malformations present challenges that require innovative approaches and comprehensive treatment strategies. Synchronous airway lesions, craniofacial malformations, obstructive anomalies of the tongue base, nasal vault and choanae are commonly addressed by subspecialists from various clinical and surgical academic traditions who practice variable levels of required communication. This is not a mere social requirement but an important requisite for intelligent and effective airway management...
September 28, 2016: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/27752213/comprehensive-treatment-of-upper-lip-arteriovenous-malformation
#18
Mohammad Jafarian, Nima Dehghani, Shahin Shams, Mohammad Esmaeelinejad, Farzad Aghdashi
Arteriovenous malformations are uncommon congenital disorders in vascular development. They frequently involve craniofacial structures and result in a morphogenic abnormality with ominous arteriovenous shunting. We present a huge AVM of the upper lip in an 18-year-old patient who was successfully treated by the combination method of presurgical endovascular embolization and complete resection of the lesion. Subsequent surgical defect in upper lip, which involved more than two-third of the lip length, was reconstructed via Webster's modification of cheek advancement flap...
September 2016: Journal of Maxillofacial and Oral Surgery
https://www.readbyqxmd.com/read/27749392/combined-ultrasound-and-exome-sequencing-approach-recognizes-opitz-g-bbb-syndrome-in-two-malformed-fetuses
#19
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27734840/genetic-polymorphism-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate-is-associated-with-developmental-dyslexia-in-chinese-school-aged-populations
#20
Bin Wang, Yuxi Zhou, Song Leng, Liyuan Zheng, Hong Lv, Fei Wang, Li-Hai Tan, Yimin Sun
Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, potential linkage between these two disorders has been suggested as prevalence of DD among NSCL/P patients was much higher than that in general populations. Previous neuroimaging studies observed impaired short-term memory in patients with DD and NSCL/P, respectively...
October 13, 2016: Journal of Human Genetics
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