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https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#1
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/27917906/novel-human-mutation-and-crispr-cas-genome-edited-mice-reveal-the-importance-of-c-terminal-domain-of-msx1-in-tooth-and-palate-development
#2
Silvia Naomi Mitsui, Akihiro Yasue, Kiyoshi Masuda, Takuya Naruto, Yoshiyuki Minegishi, Seiichi Oyadomari, Sumihare Noji, Issei Imoto, Eiji Tanaka
Several mutations, located mainly in the MSX1 homeodomain, have been identified in non-syndromic tooth agenesis predominantly affecting premolars and third molars. We identified a novel frameshift mutation of the highly conserved C-terminal domain of MSX1, known as Msx homology domain 6 (MH6), in a Japanese family with non-syndromic tooth agenesis. To investigate the importance of MH6 in tooth development, Msx1 was targeted in mice with CRISPR/Cas system. Although heterozygous MH6 disruption did not alter craniofacial development, homozygous mice exhibited agenesis of lower incisors with or without cleft palate at E16...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#3
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/27893558/medial-femoral-condyle-free-flap-for-premaxillary-reconstruction-in-median-facial-dysplasia
#4
Jong Woo Choi, Woo Shik Jeong, Soon Man Kwon, Kyung S Koh
OBJECTIVE: Median facial dysplasia is a distinct development anomaly of the craniofacial region that is characterized by deficient mid facial structures. Medial femoral condyle free flap could be used as a bony flap, and the unique characteristics of this flap provide the surgeons with the periosteal component as well. In this work, the authors present our experience with a patient of median facial dysplasia with unilateral cleft lip, cleft palate, and premaxillary deficiency. METHODS: The patient was diagnosed with median facial dysplasia accompanied by unilateral cleft lip, cleft palate, and premaxillary...
November 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27890229/maxillofacial-defects-and-the-use-of-growth-factors
#5
REVIEW
Alan S Herford, Meagan Miller, Fabrizio Signorino
The development and increase in knowledge of the benefits and applications of growth factors in craniofacial reconstruction adds a novel tool in the reconstructive surgeon's armamentarium. The use of growth factors varies according to presentation. Growth factors help to promote healing, angiogenesis, and formation of bone of improved quality and quantity. Growth factors used with stem cells and scaffolds provide a solution or alternative to discomfort created by donor autograft sites. The application and results of these growth factors are displayed in various examples of maxillofacial defects in this article, including reconstruction of a premaxillary cleft and of maxillary augmentation...
February 2017: Oral and Maxillofacial Surgery Clinics of North America
https://www.readbyqxmd.com/read/27880803/wdr68-mediates-dorsal-and-ventral-patterning-events-for-craniofacial-development
#6
Estibaliz Alvarado, Mina Yousefelahiyeh, Greg Alvarado, Robin Shang, Taryn Whitman, Andrew Martinez, Yang Yu, Annie Pham, Anish Bhandari, Bingyan Wang, Robert M Nissen
Birth defects are among the leading causes of infant mortality and contribute substantially to illness and long-term disability. Defects in Bone Morphogenetic Protein (BMP) signaling are associated with cleft lip/palate. Many craniofacial syndromes are caused by defects in signaling pathways that pattern the cranial neural crest cells (CNCCs) along the dorsal-ventral axis. For example, auriculocondylar syndrome is caused by impaired Endothelin-1 (Edn1) signaling, and Alagille syndrome is caused by defects in Jagged-Notch signaling...
2016: PloS One
https://www.readbyqxmd.com/read/27871707/cone-beam-computed-tomography-synthesized-cephalometric-study-of-operated-unilateral-cleft-lip-and-palate-and-noncleft-children-with-class-iii-skeletal-relationship
#7
Yifan Lin, Zhen Fu, Lian Ma, Weiran Li
INTRODUCTION: Our objective was to compare the craniofacial hard and soft tissue characteristics between children with operated unilateral cleft lip and palate (UCLP) and children with noncleft lip and palate (non-CLP) with a Class III skeletal relationship. METHODS: The study sample consisted of 30 subjects (18 boys, 12 girls; mean age, 10.21 years) affected by UCLP and 30 non-CLP subjects (17 boys, 13 girls; mean age, 10.19 years) as the control group. All subjects were in the mixed dentition with a Class III skeletal relationship...
November 2016: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/27856617/pdgfr%C3%AE-regulates-craniofacial-development-through-homodimers-and-functional-heterodimers-with-pdgfr%C3%AE
#8
Katherine A Fantauzzo, Philippe Soriano
Craniofacial development is a complex morphogenetic process, disruptions in which result in highly prevalent human birth defects. While platelet-derived growth factor (PDGF) receptor α (PDGFRα) has well-documented functions in this process, the role of PDGFRβ in murine craniofacial development is not well established. We demonstrate that PDGFRα and PDGFRβ are coexpressed in the craniofacial mesenchyme of mid-gestation mouse embryos and that ablation of Pdgfrb in the neural crest lineage results in increased nasal septum width, delayed palatal shelf development, and subepidermal blebbing...
November 17, 2016: Genes & Development
https://www.readbyqxmd.com/read/27802067/an-intercenter-comparison-of-dental-arch-relationships-and-craniofacial-form-including-a-center-using-nasoalveolar-molding
#9
Supakit Peanchitlertkajorn, Ana Mercado, John Daskalogiannakis, Ronald Hathaway, Kathleen Russell, Gunvor Semb, William Shaw, Manish Lamichane, Jennifer Fessler, Ross E Long
OBJECTIVE:   To compare dental arch relationship and craniofacial morphology of patients with CUCLP in pre-adolescence from five cleft centers including a center using NAM. DESIGN:   Retrospective cohort study. SETTING:   Five cleft centers in North America. PATIENTS:   One hundred eighty-two subjects with repaired CUCLP from the five cleft centers participated in the craniofacial form study. One hundred forty-eight subjects from four of the five centers participated in the dental arch relationship study...
November 1, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27799912/understanding-mechanisms-of-gli-mediated-transcription-during-craniofacial-development-and-disease-using-the-ciliopathic-mutant-talpid-2
#10
Ya-Ting Chang, Praneet Chaturvedi, Elizabeth N Schock, Samantha A Brugmann
The primary cilium is a ubiquitous, microtubule-based organelle that cells utilize to transduce molecular signals. Ciliopathies are a group of diseases that are caused by a disruption in the structure or function of the primary cilium. Over 30% of all ciliopathies are primarily defined by their craniofacial phenotypes, which typically include midfacial defects, cleft lip/palate, micrognathia, aglossia, and craniosynostosis. The frequency and severity of craniofacial phenotypes in ciliopathies emphasizes the importance of the cilium during development of the craniofacial complex...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27765551/facial-bone-reconstruction-with-prefabricated-vascularized-calvarium-flaps-in-children-and-young-adults-advantages-and-long-term-results
#11
Eva Meia Rüegg, Paul Gniadek, Ali Modarressi, Denise Baratti-Mayer, Brigitte Pittet-Cuénod
INTRODUCTION: Reconstruction of facial bone defects in children is challenging. The use of well-vascularized bone is mandatory to obtain stable lasting results. This study reports our experience of facial bone reconstruction using prefabricated vascularized calvarium flaps. METHODS: Retrospective case series of 50 patients who underwent 52 maxillary, malar, and mandibular reconstructions between 1988 and 2014 using prefabricated vascularized calvarium flaps. Forty-nine patients suffered from noma sequels; one patient had craniofacial cleft Tessier 3-11...
September 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27763978/evaluation-of-the-transverse-craniofacial-morphology-of-adolescents-with-repaired-unilateral-cleft-lip-and-palate-using-cone-beam-computed-tomography
#12
Suleyman Kutalmiş Buyuk, Mevlut Celikoglu, Yasin Atakan Benkli, Ahmet Ercan Sekerci
AIM: The aim of the study was to evaluate the transverse craniofacial morphology of the adolescent patients affected by unilateral cleft lip and palate (UCLP) and to compare the findings with age- and sex-matched control group without any cleft using their cone-beam computed tomography (CBCT) images. METHODS: The study sample (n = 56 patients; mean age: 14.35 ± 3.06 years) consisted of 26 UCLP (n = 26 patients; 10 women and 16 men; mean age: 13.70 ± 2...
October 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27755407/anthropometrically-based-surgical-technique-for-tessier-3-cleft-reconstruction
#13
Aaron L Morgan, Roger Cason, Christian A El Amm
Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. The Tessier number 3 cleft, the most medial of the oblique clefts, can manifest as clefting of the lip between the canine and lateral incisors, colobomas of the nasal ala and lower eyelid, and inferior displacement of the medial canthus-frequently disrupting the lacrimal system with extreme variability in expressivity (Eppley).Literature on cleft lip repair is extensive and has evolved to incorporate anthropometric techniques, based on identifiable landmarks and anthropometric measurements that are compared with contralateral unaffected anatomy or population means and tracked over time to assess impact on growth...
October 14, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27749392/combined-ultrasound-and-exome-sequencing-approach-recognizes-opitz-g-bbb-syndrome-in-two-malformed-fetuses
#14
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
#15
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
https://www.readbyqxmd.com/read/27729136/trends-in-medical-malpractice-claims-in-patients-with-cleft-or-craniofacial-abnormalities-in-the-united-states
#16
Rounak B Rawal, Lauren A Kilpatrick, Jeyhan S Wood, Amelia F Drake
OBJECTIVE: To describe medical malpractice trends in patients with cleft and/or craniofacial abnormalities. METHODS AND MATERIALS: A modified Delphi approach was used to gather search terms. Search settings included "all jury verdicts and settlements", with jurisdiction of "all states" and "all federal courts" (by court and circuit). A retrospective review of WestLawNext legal database was conducted. Cases were excluded if they did not have a direct association from the patient's craniofacial anomaly or if they were not related to malpractice...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27729116/msx1-gene-polymorphisms-in-mexican-patients-with-non-syndromic-cleft-lip-palate
#17
Aurora Ibarra-Arce, Tania Albavera-Giles, Beatriz Zavaleta-Villa, Gabriela Ortiz de Zárate-Alarcón, Laura Flores-Peña, María Del Carmen Sierra-Romero, Mirza Romero-Valdovinos, Angélica Olivo-Díaz
OBJECTIVE: Non-syndromic cleft lip/palate malformation (CL/P) is one of the most common birth defects in humans and has a complex etiology involving genetic and environmental factors. Mutations in the MSX1 gene are critical during craniofacial development. The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing CL/P in a sample of Mexican patients. METHODS: The sample consisted of 282 subjects (69 cases and 213 relatives)...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27712820/tessier-clefts-and-hypertelorism
#18
Ryan Winters
Tessier's classification system for rare craniofacial clefts remains the most widely used today. It denotes the position of the cleft process in a schema based around the orbit, and facilitates communication between surgeons regarding these complicated conditions. Tessier's classification is reviewed in detail, and a separate discussion of hypertelorism (increased distance between the bony orbits) follows, focusing on orbital hypertelorism in the setting of craniofacial clefts.
November 2016: Facial Plastic Surgery Clinics of North America
https://www.readbyqxmd.com/read/27712812/evaluation-of-speech-and-resonance-for-children-with-craniofacial-anomalies
#19
Ann W Kummer
Children with craniofacial anomalies often demonstrate disorders of speech and/or resonance. Anomalies that affect speech and resonance are most commonly caused by clefts of the primary palate and secondary palate. This article discusses how speech-language pathologists evaluate the effects of dental and occlusal anomalies on speech production and the effects of velopharyngeal insufficiency on speech sound production and resonance. How to estimate the size of a velopharyngeal opening based on speech characteristics is illustrated...
November 2016: Facial Plastic Surgery Clinics of North America
https://www.readbyqxmd.com/read/27712809/genetic-evaluation-for-craniofacial-conditions
#20
Howard M Saal
There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. Clinical genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management...
November 2016: Facial Plastic Surgery Clinics of North America
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