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[PMID]: 29344614
[Au] Autor:Tollefson TT
[Ad] Address:Otolaryngology-Head and Neck Surgery, University of California, Davis, Sacramento, California.
[Ti] Title:Apprehending Otherness Through Wonder: A Facial Plastic Surgeon's Review of the Book and Movie.
[So] Source:JAMA;319(7):640-642, 2018 Feb 20.
[Is] ISSN:1538-3598
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Literature, Modern
Mandibulofacial Dysostosis
Medicine in Literature
Medicine in the Arts
Motion Pictures
[Mh] MeSH terms secundary: Child
Humans
Interpersonal Relations
Male
Mandibulofacial Dysostosis/psychology
Mandibulofacial Dysostosis/surgery
Surgery, Plastic
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180119
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.22109

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[PMID]: 29198722
[Au] Autor:Palmer EE; Kumar R; Gordon CT; Shaw M; Hubert L; Carroll R; Rio M; Murray L; Leffler M; Dudding-Byth T; Oufadem M; Lalani SR; Lewis AM; Xia F; Tam A; Webster R; Brammah S; Filippini F; Pollard J; Spies J; Minoche AE; Cowley MJ; Risen S; Powell-Hamilton NN; Tusi JE; Immken L; Nagakura H; Bole-Feysot C; Nitschké P; Garrigue A; de Saint Basile G; Kivuva E; Scott RH; Rendon A; Munnich A; Newman W; Kerr B; Besmond C; Rosenfeld JA; Amiel J; Field M; Gecz J; DDD Study
[Ad] Address:Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia.
[Ti] Title:A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
[So] Source:Am J Hum Genet;101(6):995-1005, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. We show that the c.2737C>T variant does not trigger nonsense-mediated decay of the ZSWIM6 mRNA in affected individual-derived cells. This finding supports the existence of a truncated ZSWIM6 protein lacking the Sin3-like domain, which could have a dominant-negative effect. This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes.
[Mh] MeSH terms primary: DNA-Binding Proteins/genetics
Intellectual Disability/genetics
Neurocognitive Disorders/genetics
[Mh] MeSH terms secundary: Central Nervous System/abnormalities
Central Nervous System/embryology
Codon, Nonsense/genetics
High-Throughput Nucleotide Sequencing
Humans
Limb Deformities, Congenital/genetics
Mandibulofacial Dysostosis/genetics
Peripheral Nervous System/abnormalities
Peripheral Nervous System/enzymology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); 0 (DNA-Binding Proteins); 0 (ZSWIM6 protein, human)
[Em] Entry month:1801
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[Js] Journal subset:IM
[Da] Date of entry for processing:171205
[St] Status:MEDLINE

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[PMID]: 28468148
[Au] Autor:Ligh CA; Swanson J; Yu JW; Samra F; Bartlett SP; Taylor JA
[Ad] Address:*Division of Plastic and Reconstructive Surgery, Department of Surgery, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA †Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Southern California, Los Angeles, CA.
[Ti] Title:A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.
[So] Source:J Craniofac Surg;28(3):683-687, 2017 May.
[Is] ISSN:1536-3732
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle). Each category was graded from I to IV and a composite mandible classification was determined by the median value among the 3 component grades. RESULTS: Twenty patients with TCS, aged 1 month to 20 years, with at least one 3D-CT prior to mandibular surgery were studied. Overall, 33 3D-CTs were evaluated and ordered from least to most severe phenotype with 10 (30%) Grade 1 (least severe), 14 (42%) Grade 2, 7 (21%) Grade 3, and 2 (7%) Grade 4 (most severe). Seven patients had at least 2 longitudinal scans encompassing an average 5.7 (range 5-11) years of growth. Despite increasing age, mandibular classification (both components and composite) remained stable in those patients over time (P = 0.2182). CONCLUSION: The authors present a classification scheme for the TCS mandible based on degree of condylar hypoplasia, mandibular plane angle (Co-Go-Me angle), and retrognathia (SNB angle). While there is a natural progression of the mandibular morphology with age, patients followed longitudinally demonstrate consistency in their classification. Further work is needed to determine the classification scheme's validity, generalizability, and overall utility.
[Mh] MeSH terms primary: Malocclusion/surgery
Mandibulofacial Dysostosis/classification
Mandibulofacial Dysostosis/surgery
[Mh] MeSH terms secundary: Adolescent
Cephalometry/methods
Child
Child, Preschool
Female
Humans
Imaging, Three-Dimensional
Infant
Male
Malocclusion/classification
Malocclusion/diagnosis
Mandible/abnormalities
Mandibulofacial Dysostosis/diagnosis
Retrognathia/classification
Retrognathia/diagnosis
Retrognathia/surgery
Retrospective Studies
Tomography, X-Ray Computed/methods
Tooth Abnormalities/classification
Tooth Abnormalities/diagnosis
Tooth Abnormalities/surgery
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180126
[Lr] Last revision date:180126
[Js] Journal subset:D
[Da] Date of entry for processing:170505
[St] Status:MEDLINE
[do] DOI:10.1097/SCS.0000000000003470

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Abramides, Dagma Venturini Marques
SciELO Brazil full text

[PMID]: 29236889
[Au] Autor:Maximino LP; Ducati LG; Abramides DVM; Corrêa CC; Garcia PF; Fernandes AY
[Ad] Address:Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil.
[Ti] Title:Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.
[So] Source:Arq Neuropsiquiatr;75(12):862-868, 2017 Dec.
[Is] ISSN:1678-4227
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. METHODS: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. RESULTS: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. CONCLUSION: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.
[Mh] MeSH terms primary: Acrocephalosyndactylia/physiopathology
Craniofacial Dysostosis/physiopathology
Language Development
[Mh] MeSH terms secundary: Acrocephalosyndactylia/complications
Acrocephalosyndactylia/diagnostic imaging
Adolescent
Adult
Child
Child, Preschool
Craniofacial Dysostosis/complications
Craniofacial Dysostosis/diagnostic imaging
Female
Humans
Language Tests
Male
Neuropsychological Tests
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[Js] Journal subset:IM
[Da] Date of entry for processing:171214
[St] Status:MEDLINE

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[PMID]: 27777025
[Au] Autor:Tse WK
[Ad] Address:Faculty of Agriculture, Kyushu University, Fukuoka, Japan. Electronic address: kftse@agr.kyushu-u.ac.jp.
[Ti] Title:Treacher Collins syndrome: New insights from animal models.
[So] Source:Int J Biochem Cell Biol;81(Pt A):44-47, 2016 12.
[Is] ISSN:1878-5875
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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., 2016; Noack Watt et al., 2016) and discussed the possibility of using the anti-oxidants to prevent or rescue the TCS facial phenotype (Sakai et al., 2016). Taken together, this article provides an update on the disease from basic information to pathogenesis, and further summarizes the suggested therapies from recent laboratory research.
[Mh] MeSH terms primary: Mandibulofacial Dysostosis
[Mh] MeSH terms secundary: Animals
Disease Models, Animal
Humans
Mandibulofacial Dysostosis/drug therapy
Mandibulofacial Dysostosis/etiology
Mandibulofacial Dysostosis/metabolism
Molecular Targeted Therapy
[Pt] Publication type:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1711
[Cu] Class update date: 171217
[Lr] Last revision date:171217
[Js] Journal subset:IM
[Da] Date of entry for processing:161106
[St] Status:MEDLINE

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[PMID]: 28797104
[Au] Autor:Zhang Y; Wei QS; Ding WB; Zhang LL; Wang HC; Zhu YJ; He W; Chai YN; Liu YW
[Ad] Address:Medical Centre of Hip, Luoyang Orthopaedic-Traumatological Hospital (Orthopaedic Hospital of Henan Province), Luoyang, China.
[Ti] Title:Increased microRNA-93-5p inhibits osteogenic differentiation by targeting bone morphogenetic protein-2.
[So] Source:PLoS One;12(8):e0182678, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND AND PURPOSE: Trauma-induced osteonecrosis of the femoral head (TIONFH) is a major complication of femoral neck fractures. Degeneration and necrosis of subchondral bone can cause collapse, which results in hip joint dysfunction in patients. The destruction of bone metabolism homeostasis is an important factor for osteonecrosis. MicroRNAs (miRNAs) have an important role in regulating osteogenic differentiation, but the mechanisms underlying abnormal bone metabolism of TIONFH are poorly understood. In this study, we screened specific miRNAs in TIONFH by microarray and further explored the mechanism of osteogenic differentiation. DESIGN: Blood samples from patients with TIONFH and patients without necrosis after trauma were compared by microarray, and bone collapse of necrotic bone tissue was evaluated by micro-CT and immunohistochemistry. To confirm the relationship between miRNA and osteogenic differentiation, we conducted cell culture experiments. We found that many miRNAs were significantly different, including miR-93-5p; the increase in this miRNA was verified by Q-PCR. Comparison of the tissue samples showed that miR-93-5p expression increased, and alkaline phosphatase (ALP) and osteopontin (OPN) levels decreased, suggesting miR-93-5p may be involved in osteogenic differentiation. Further bioinformatics analysis indicated that miR-93-5p can target bone morphogenetic protein 2 (BMP-2). A luciferase gene reporter assay was performed to confirm these findings. By simulating and/or inhibiting miR-93-5p expression in human bone marrow mesenchymal stem cells, we confirmed that osteogenic differentiation-related indictors, including BMP-2, Osterix, Runt-related transcription factor, ALP and OPN, were decreased by miR-93-5p. CONCLUSION: Our study showed that increased miR-93-5p in TIONFH patients inhibited osteogenic differentiation, which may be associated with BMP-2 reduction. Therefore, miR-93-5p may be a potential target for prevention of TIONFH.
[Mh] MeSH terms primary: Bone Morphogenetic Protein 2/genetics
Femoral Neck Fractures/metabolism
Femur Head Necrosis/metabolism
MicroRNAs/physiology
Osteogenesis
[Mh] MeSH terms secundary: Abnormalities, Multiple
Adult
Base Sequence
Binding Sites
Bone Morphogenetic Protein 2/metabolism
Female
Femoral Neck Fractures/complications
Femoral Neck Fractures/pathology
Femur Head Necrosis/etiology
Femur Head Necrosis/pathology
HEK293 Cells
Humans
Limb Deformities, Congenital
Male
Mandibulofacial Dysostosis
Micrognathism
Middle Aged
Osteoblasts/physiology
RNA Interference
Sequence Analysis, DNA
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (BMP2 protein, human); 0 (Bone Morphogenetic Protein 2); 0 (MIRN93 microRNA, human); 0 (MicroRNAs)
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[Js] Journal subset:IM
[Da] Date of entry for processing:170811
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0182678

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[PMID]: 28738062
[Au] Autor:Zhang X; Liu Y; Wang X; Sun X; Zhang C; Zheng S
[Ad] Address:Department of Preventive Dentistry, Peking University School and Hospital of Stomatology, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Beijing, PR China.
[Ti] Title:Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
[So] Source:PLoS One;12(7):e0181653, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c.199C>T p.Q67X) and three missense mutations (c.338T>G p.L113R, c.557G>C p.R186T and c.673C>T p.R225W). Among them, two mutations (c.199C>T p.Q67X and c.557G>C p.R186T) were novel and the other two had been reported in previous literatures. Except for Q67X mutation located in the Q/A domain, other three mutations were clustered within the highly conserved Runt domain. Green fluorescent protein (GFP) and RUNX2 fusion protein analyses in vitro showed that nuclear accumulation of RUNX2 protein was disturbed by Q67X mutation, while the other two mutations (c.338T>G p.L113R and c.557G>C p.R186T) had no effects on the subcellular distribution of RUNX2. Luciferase reporter assay demonstrated that all the three novel RUNX2 mutations significantly reduced the transactivation activity of RUNX2 on osteocalcin promoter. Our findings enrich the evidence of molecular genetics that the mutations of RUNX2 gene are responsible for CCD.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
Cleidocranial Dysplasia/genetics
Core Binding Factor Alpha 1 Subunit/genetics
Mutation/genetics
[Mh] MeSH terms secundary: 3T3 Cells
Adolescent
Adult
Animals
Cell Line
Child
DNA Mutational Analysis/methods
Female
Heterozygote
Humans
Male
Mice
Osteocalcin/genetics
Pedigree
Phenotype
Promoter Regions, Genetic/genetics
Transcriptional Activation/genetics
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Core Binding Factor Alpha 1 Subunit); 0 (RUNX2 protein, human); 104982-03-8 (Osteocalcin)
[Em] Entry month:1709
[Cu] Class update date: 170921
[Lr] Last revision date:170921
[Js] Journal subset:IM
[Da] Date of entry for processing:170725
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0181653

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[PMID]: 28688869
[Au] Autor:Wu CC; Sakahara D; Imai K
[Ad] Address:Craniofacial Center, Division of Plastic and Reconstructive Surgery, Department of Surgery, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University, College of Medicine, Taiwan.
[Ti] Title:Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review.
[So] Source:J Plast Reconstr Aesthet Surg;70(10):1449-1456, 2017 Oct.
[Is] ISSN:1878-0539
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Nager syndrome, also known as Nager acrofacial dysostosis, was first described by Nager and de Reynier in 1948. The patients commonly present with micrognathia, and a preventive tracheostomy is necessary when there are symptoms of upper airway obstruction. Mandibular distraction osteogenesis is considered as an effective procedure, which not only improves micrognathia but also minimizes the chances of tracheostomy. However, mandibular distraction osteogenesis has some complications such as relapse, teeth injury, infection, and injury of the temporomandibular joints (TMJs). In this study, the author reported two patients with Nager syndrome who suffered from ankylosis of TMJs after mandibular distraction osteogenesis. In addition, a comprehensive literature review of post-distraction ankylosis of TMJs in patients with Nager syndrome was performed. Few studies demonstrated the condition of TMJs after mandibular distraction osteogenesis, and three studies were identified from the review. One study reported ankylosis of bilateral coronoid processes, in which coronoidectomies were necessary. Another study reported the use of prostheses to replace the ankylosed joints in a patient who had undergone many surgeries of the joints, such as gap arthroplasties, reconstructions with costochondral grafts, etc. One other study raised the concept of unloading the condyles during the mandibular distraction to prevent subsequent ankylosis. It seems that multiple factors are related to the ankylosis of TMJs after mandibular distraction osteogenesis in patients with Nager syndrome. Prevention of post-distraction ankylosis of the joints is important because the treatment is difficult and not always effective. We should conduct more studies about protection of the joints during mandibular distraction in the future.
[Mh] MeSH terms primary: Mandibulofacial Dysostosis/complications
Micrognathism
Osteogenesis, Distraction/adverse effects
Temporomandibular Joint
[Mh] MeSH terms secundary: Adolescent
Ankylosis/etiology
Child
Female
Humans
Male
Mandible/surgery
Micrognathism/etiology
Micrognathism/surgery
Osteogenesis, Distraction/methods
Reoperation/methods
Temporomandibular Joint/diagnostic imaging
Temporomandibular Joint/pathology
Temporomandibular Joint/physiopathology
Treatment Outcome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1709
[Cu] Class update date: 170928
[Lr] Last revision date:170928
[Js] Journal subset:IM
[Da] Date of entry for processing:170710
[St] Status:MEDLINE

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[PMID]: 28581440
[Au] Autor:Matsumoto Y; La Rose J; Lim M; Adissu HA; Law N; Mao X; Cong F; Mera P; Karsenty G; Goltzman D; Changoor A; Zhang L; Stajkowski M; Grynpas MD; Bergmann C; Rottapel R
[Ad] Address:Princess Margaret Cancer Center, University Health Network, University of Toronto, Toronto, Ontario, Canada.
[Ti] Title:Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism.
[So] Source:J Clin Invest;127(7):2612-2625, 2017 Jun 30.
[Is] ISSN:1558-8238
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Cleidocranial dysplasia (CCD) is an autosomal dominant human disorder characterized by abnormal bone development that is mainly due to defective intramembranous bone formation by osteoblasts. Here, we describe a mouse strain lacking the E3 ubiquitin ligase RNF146 that shows phenotypic similarities to CCD. Loss of RNF146 stabilized its substrate AXIN1, leading to impairment of WNT3a-induced ß-catenin activation and reduced Fgf18 expression in osteoblasts. We show that FGF18 induces transcriptional coactivator with PDZ-binding motif (TAZ) expression, which is required for osteoblast proliferation and differentiation through transcriptional enhancer associate domain (TEAD) and runt-related transcription factor 2 (RUNX2) transcription factors, respectively. Finally, we demonstrate that adipogenesis is enhanced in Rnf146-/- mouse embryonic fibroblasts. Moreover, mice with loss of RNF146 within the osteoblast lineage had increased fat stores and were glucose intolerant with severe osteopenia because of defective osteoblastogenesis and subsequent impaired osteocalcin production. These findings indicate that RNF146 is required to coordinate ß-catenin signaling within the osteoblast lineage during embryonic and postnatal bone development.
[Mh] MeSH terms primary: Bone Development
Cleidocranial Dysplasia/metabolism
Energy Metabolism
Osteoblasts/metabolism
Signal Transduction
Ubiquitin-Protein Ligases/metabolism
[Mh] MeSH terms secundary: Animals
Axin Protein/biosynthesis
Axin Protein/genetics
Cleidocranial Dysplasia/genetics
Core Binding Factor Alpha 1 Subunit/biosynthesis
Core Binding Factor Alpha 1 Subunit/genetics
Humans
Mice
Mice, Knockout
Osteocalcin/biosynthesis
Osteocalcin/genetics
Ubiquitin-Protein Ligases/genetics
beta Catenin/genetics
beta Catenin/metabolism
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Axin Protein); 0 (Axin1 protein, mouse); 0 (Core Binding Factor Alpha 1 Subunit); 0 (Runx2 protein, mouse); 0 (beta Catenin); 104982-03-8 (Osteocalcin); EC 2.3.2.27 (Rnf146 protein, mouse); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Entry month:1709
[Cu] Class update date: 170930
[Lr] Last revision date:170930
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170606
[St] Status:MEDLINE

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[PMID]: 28574949
[Au] Autor:Runyan CM; Xu W; Alperovich M; Massie JP; Paek G; Cohen BA; Staffenberg DA; Flores RL; Taylor JA
[Ad] Address:Winston Salem, N.C.; Philadelphia, Pa.; New Haven, Conn.; and New York, N.Y. From the Department of Plastic and Reconstructive Surgery, Wake Forest University; the Division of Plastic Surgery, University of Pennsylvania; the Division of Plastic and Reconstructive Surgery, Yale University; and the Hansjorg Wyss Department of Plastic Surgery and the Department of Radiology, New York University.
[Ti] Title:Minor Suture Fusion in Syndromic Craniosynostosis.
[So] Source:Plast Reconstr Surg;140(3):434e-445e, 2017 Sep.
[Is] ISSN:1529-4242
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Infants with craniofacial dysostosis syndromes may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies. Delayed presentation of their calvarial phenotype is known as progressive postnatal craniosynostosis. Minor sutures/synchondroses are continuations of major sutures toward and within the skull base. The authors hypothesized that minor suture synostosis is present in infants with syndromic, progressive postnatal craniosynostosis, and is associated with major suture synostosis. METHODS: The authors performed a two-institution review of infants (<1 year) with syndromic craniosynostosis and available computed tomographic scans. Major (i.e., metopic, sagittal, coronal, and lambdoid) and minor suture/synchondrosis fusion was determined by two craniofacial surgeons and one radiologist using Mimics or Radiant software. RESULTS: Seventy-three patients with 84 scans were included. Those with FGFR2 mutations were more likely to lack any major suture fusion (OR, 19.0; p = 0.044). Minor suture fusion occurred more often in the posterior branch of the coronal arch (OR, 3.33; p < 0.001), squamosal arch (OR, 7.32; p < 0.001), and posterior intraoccipital synchondroses (OR, 15.84; p < 0.001), among FGFR2 versus other patients. Patients (n = 9) with multiple scans showed a pattern of minor suture fusion followed by increased minor and major suture synostosis. Over 84 percent of FGFR2 patients had minor suture fusion; however, six (13 percent) were identified with isolated major suture synostosis. CONCLUSIONS: Minor suture fusion occurs in most patients with FGFR2-related craniofacial dysostosis. Syndromic patients with patent calvarial sutures should be investigated for minor suture involvement. These data have important implications for the pathophysiology of skull growth and development in this select group of patients. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.
[Mh] MeSH terms primary: Cranial Sutures/pathology
Craniofacial Dysostosis/pathology
Craniosynostoses/pathology
[Mh] MeSH terms secundary: Craniofacial Dysostosis/physiopathology
Craniosynostoses/genetics
Craniosynostoses/physiopathology
Female
Humans
Infant
Intracranial Pressure/physiology
Male
Receptor, Fibroblast Growth Factor, Type 2/genetics
Tomography, X-Ray Computed
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:EC 2.7.10.1 (FGFR2 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
[Em] Entry month:1709
[Cu] Class update date: 171025
[Lr] Last revision date:171025
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170603
[St] Status:MEDLINE
[do] DOI:10.1097/PRS.0000000000003586


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BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information