Database : MEDLINE
Search on : Craniofacial and Dysostosis [Words]
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[PMID]: 29381487
[Au] Autor:Yu KPT; Luk HM; Gordon CT; Fung G; Oufadem M; Garcia-Barcelo MM; Amiel J; Chung BHY; Lo IFM; Tiong YT
[Ad] Address:Clinical Genetic Service, Department of Health.
[Ti] Title:Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
[So] Source:Clin Dysmorphol;27(2):31-35, 2018 Apr.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. To date, there have been a total of 108 individuals reported in the literature, of whom 95 patients have a confirmed EFTUD2 mutation. The majority of individuals reported in the literature have been of White ethnic origin. Here, we report two individuals of Asian ancestry with MFDGA, each harboring a novel, pathogenic splice site variant in EFTUD2.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Process
[do] DOI:10.1097/MCD.0000000000000214

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[PMID]: 28458495
[Au] Autor:Chhabra N; Chhabra A
[Ad] Address:Department of Dental Surgery, North DMC Medical College and Hindu Rao Hospital, Delhi, India.
[Ti] Title:Hemifacial Microsomia : Clinicoradiological Insight and Report of a Case.
[So] Source:Ethiop J Health Sci;27(1):91-94, 2017 Jan.
[Is] ISSN:2413-7170
[Cp] Country of publication:Ethiopia
[La] Language:eng
[Ab] Abstract:BACKGROUND: Hemifacial microsomia is a congenital malformation characterized by deficiency in the amount of hard and soft tissue on one side of the face. It is primarily a syndrome of the first branchial arch, involving underdevelopment of the temporomandibular joint, masticatory muscles, mandibular ramus, ear and, occasionally, defects in facial nerve and muscles. CASE DETAILS: The clinical and radiological manifestations of a 14-year-old male patient having hemifacial microsomia is highlighted in this article to enhance our knowledge and diagnostic skill of this rare entity. CONCLUSION: This case illustrates that early diagnosis and intervention in a patient with hemifacial microsomia is quintessential for proper functioning and esthetics of the orofacial structures, which will lead to a better prognosis.
[Mh] MeSH terms primary: Goldenhar Syndrome/diagnosis
[Mh] MeSH terms secundary: Adolescent
Diagnosis, Differential
Goldenhar Syndrome/diagnostic imaging
Humans
Male
Mandible/diagnostic imaging
Physical Examination/methods
Radiography, Panoramic/methods
Temporomandibular Joint/diagnostic imaging
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[Js] Journal subset:IM
[Da] Date of entry for processing:170502
[St] Status:MEDLINE

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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]: 29298444
[Au] Autor:Niida Y; Inoue M; Ozaki M; Takase E
[Ad] Address:Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Uchinada, Japan.
[Ti] Title:Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.
[So] Source:Cytogenet Genome Res;153(2):56-65, 2017.
[Is] ISSN:1424-859X
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6.6-Mb deletion of 2q14.1q14.3. Patient 2 is a 2-year-old girl with Greig cephalopolysyndactyly contiguous gene deletion syndrome. She manifested macrocephaly, preaxial polysyndactyly, psychomotor developmental delay, cerebral cavernous malformations, and glucose intolerance due to a 6.2-Mb deletion of 7p14.1p12.3 which included GLI3, GCK, and CCM2. Each patient manifests a different phenotype which is associated with different functions of each GLI gene and different effects of the chromosomal contiguous gene deletion. We summarize the phenotypic extent of GLI2/3 syndromes in the literature and determine that these 2 syndromes manifest opposite features to a certain extent, such as midface hypoplasia or macrocephaly, and anterior or posterior side of polydactyly. We propose a GLIA/R balance model that may explain these findings.
[Mh] MeSH terms primary: Abnormalities, Multiple/genetics
Acrocephalosyndactylia/genetics
Chromosomes, Human, Pair 2/ultrastructure
Chromosomes, Human, Pair 7/ultrastructure
Nerve Tissue Proteins/deficiency
Nuclear Proteins/deficiency
Zinc Finger Protein Gli2/deficiency
Zinc Finger Protein Gli3/deficiency
[Mh] MeSH terms secundary: Adolescent
Child, Preschool
Chromosomes, Human, Pair 2/genetics
Chromosomes, Human, Pair 7/genetics
Cleft Palate/genetics
Dwarfism/genetics
Female
Glucose Intolerance/genetics
Hedgehog Proteins/physiology
Hemangioma, Cavernous, Central Nervous System/genetics
Humans
Intellectual Disability/genetics
Karyotyping
Models, Biological
Morphogenesis/genetics
Nerve Tissue Proteins/genetics
Nerve Tissue Proteins/physiology
Nuclear Proteins/genetics
Nuclear Proteins/physiology
Oligonucleotide Array Sequence Analysis
Phenotype
Sequence Deletion
Signal Transduction/genetics
Syndrome
Zinc Finger Protein Gli2/genetics
Zinc Finger Protein Gli2/physiology
Zinc Finger Protein Gli3/genetics
Zinc Finger Protein Gli3/physiology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (GLI2 protein, human); 0 (GLI3 protein, human); 0 (Hedgehog Proteins); 0 (Nerve Tissue Proteins); 0 (Nuclear Proteins); 0 (SHH protein, human); 0 (Zinc Finger Protein Gli2); 0 (Zinc Finger Protein Gli3)
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[Js] Journal subset:IM
[Da] Date of entry for processing:180104
[St] Status:MEDLINE
[do] DOI:10.1159/000485227

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[PMID]: 29407505
[Au] Autor:Nardi C; De Falco L; Selvi V; Lorini C; Calistri L; Colagrande S
[Ad] Address:Department of Experimental and Clinical Biomedical Sciences, Radiodiagnostic Unit number 2, University of Florence, Azienda Ospedaliero, Universitaria Careggi, Florence, Italy. Electronic address: cosimo.nardi@unifi.it.
[Ti] Title:Role of cone-beam computed tomography with a large field of view in Goldenhar syndrome.
[So] Source:Am J Orthod Dentofacial Orthop;153(2):269-277, 2018 Feb.
[Is] ISSN:1097-6752
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Goldenhar syndrome is a rare disease with hemifacial microsomia and craniofacial disorders originating from the first and second branchial arches, such as ocular, auricular, and vertebral anomalies. The complexity and variety of the ways in which the disease presents itself usually need several examinations. In this study, we aimed to evaluate both craniofacial and vertebral skeletal anomalies and asymmetries between the nonaffected and affected sides in patients with Goldenhar syndrome by using cone-beam computed tomography. METHODS: Ten patients (7-14 years old; 6 boys, 4 girls) were evaluated via NewTom 5G cone-beam computed tomography (QR srl, Verona, Italy) with a large field of view (18 × 16 cm). Ten anatomic facial landmarks were identified to measure the following distances bilaterally: sella turcica (ST)-mandibular angle, ST-condyle, ST-mastoid, ST-mental foramen, ST-fronto zygomatic suture, ST-zygomatic temporal suture, ST-zygomatic facial foramen, ST-sphenopalatine fossa, mandibular angle-mandibular symphysis, and mandibular angle-condyle. The following 6 volumes were calculated bilaterally: orbit, maxillary sinus, condyle, external ear canal, middle ear, and internal auditory canal. These measurements were performed to assess skeletal asymmetries to compare the nonaffected side with the affected side by the Wilcoxon test. Cervical spine anomalies were classified into fusion anomalies and posterior arch deficiencies. RESULTS: All patients showed a deficit of skeletal development on the affected side. Statistically significant differences (0.001 ≤ P value ≤ 0.043) between the nonaffected and affected sides were recorded for all measurements, except for ST-frontozygomatic suture, mandibular angle-mandibular symphysis, and maxillary sinus volume. Vertebral fusion anomalies and posterior arch deficiencies were found in 7 and 4 patients, respectively. CONCLUSIONS: Cone-beam computed tomography with a large field of view was able to accurately identify craniofacial and vertebral skeletal anomalies, and to quantify asymmetries between the nonaffected and affected sides for an efficient maxillofacial treatment planning.
[Mh] MeSH terms primary: Cone-Beam Computed Tomography
Goldenhar Syndrome/diagnostic imaging
[Mh] MeSH terms secundary: Adolescent
Child
Cone-Beam Computed Tomography/methods
Craniofacial Abnormalities/diagnostic imaging
Female
Foramen Magnum/diagnostic imaging
Humans
Male
Mandible/diagnostic imaging
Mandibular Condyle/diagnostic imaging
Mastoid/diagnostic imaging
Sella Turcica/diagnostic imaging
Spine/diagnostic imaging
Zygoma/diagnostic imaging
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[Js] Journal subset:D; IM
[Da] Date of entry for processing:180207
[St] Status:MEDLINE

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[PMID]: 28468153
[Au] Autor:Kolar JC; Ditthakasem K; Fearon JA
[Ad] Address:*Department of Research, Medical City Dallas Hospital †The Craniofacial Center, Dallas, TX.
[Ti] Title:Long-Term Evaluation of Mandibular Growth in Children With FGFR2 Mutations.
[So] Source:J Craniofac Surg;28(3):709-712, 2017 May.
[Is] ISSN:1536-3732
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Understanding mandibular growth in children with fibroblast growth factor receptor 2 (FGFR2) mutations is important for planning the degree of midface advancement, and for determining the best treatment for obstructive sleep apnea. Yet, relatively little is known about growth of the unoperated mandible in affected children. The purpose of this study was to evaluate mandibular growth through skeletal maturity in Apert, Crouzon, and Pfeiffer syndromes. METHODS: A retrospective chart review was performed. Long-term, unoperated mandibular growth was assessed using multiple anthropologic measurements including: mandibular width, height, depth, and the cranial base width (approximating bicondylar width). Measurements were compared over 3 age intervals: 6 to 7 years, 10 years, and at skeletal maturity (15 years+). RESULTS: Out of 327 treated patients with FGFR2 mutations, 21 were found to have complete mandibular measurements through skeletal maturity (11 Apert, 7 Crouzon, and 3 Pfeiffer). Initial measurements revealed that mandibular height and bigonial breadth were slightly larger than normal, but sagittal depth and cranial base width were deficient. Early growth was slightly accelerated along the vertical and sagittal axes, stable across the bigonial distance, and marked deficient at the cranial base. At skeletal maturity, vertical height and bigonial width remained above average, but mandibular depth (forward sagittal growth) and cranial base width, remained deficient. CONCLUSIONS: Mandibular growth in children with FGFR2 mutations is not normal with impairments found in forward sagittal growth and skull base widening. Knowledge of these deficiencies has significant implications for both planning the degree of midfacial advancements, as well as treating obstructive sleep apnea.
[Mh] MeSH terms primary: Acrocephalosyndactylia/genetics
Mandible/growth & development
Mutation
Receptor, Fibroblast Growth Factor, Type 2/genetics
[Mh] MeSH terms secundary: Acrocephalosyndactylia/diagnosis
Acrocephalosyndactylia/metabolism
Adolescent
Child
Child, Preschool
DNA Mutational Analysis
Female
Follow-Up Studies
Humans
Male
Mandible/diagnostic imaging
Receptor, Fibroblast Growth Factor, Type 2/metabolism
Retrospective Studies
Time Factors
[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:1802
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[Js] Journal subset:D
[Da] Date of entry for processing:170505
[St] Status:MEDLINE
[do] DOI:10.1097/SCS.0000000000003494

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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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[PMID]: 28468147
[Au] Autor:Prada-Madrid JR; Franco-Chaparro LP; Garcia-Wenninger M; Palomino-Consuegra T; Stanford N; Castañeda-Hernández DA
[Ad] Address:Department of Plastic and Reconstructive Surgery, Hospital de San José - Hospital Infantil Universitario de San José, FUCS, Bogotá, Colombia.
[Ti] Title:A Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis.
[So] Source:J Craniofac Surg;28(3):675-678, 2017 May.
[Is] ISSN:1536-3732
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: The objective is to describe a new surgical procedure developed in the San Jose Pediatric University Hospital for the management of syndromic synostosis of the metopic suture in a patient clinically diagnosed with Saethre-Chotzen syndrome. METHODS: The diagnosis of Saethre-Chotzen syndrome, bilateral coronal sutures, and metopic suture synostoses was made through photographic, anthropometric, exophthalmometric, and computed tomography analysis. The keel-like frontal bone deformity was corrected following resection using a fusiform osteotomy, remodelling was obtained by milling the edges, and the bony fragments were repositioned and fixed on the posterior wall of the frontal bone. Additionally, a fronto-orbital advancement with a self-stabilizing bar was performed. RESULTS: The 1-year postoperative results showed improvement in the position of the fronto-orbital bar, adequate cranial expansion, satisfactory correction of the upper facial third alteration, and correction of the keel-like deformity. CONCLUSIONS: The surgical approach has not previously been described in the literature and offers an alternative management for syndromic craniosyntostosis of the metopic suture, avoiding skull irregularities.
[Mh] MeSH terms primary: Acrocephalosyndactylia/surgery
Craniosynostoses/surgery
[Mh] MeSH terms secundary: Acrocephalosyndactylia/diagnosis
Cranial Sutures/surgery
Craniosynostoses/diagnosis
Craniosynostoses/genetics
Female
Follow-Up Studies
Frontal Bone/abnormalities
Frontal Bone/surgery
History, Ancient
Humans
Infant
Infant, Newborn
Infant, Premature, Diseases/diagnosis
Infant, Premature, Diseases/surgery
Osteotomy/methods
Phenotype
Syndrome
Tomography, X-Ray Computed
[Pt] Publication type:CASE REPORTS; HISTORICAL ARTICLE; 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.0000000000003459

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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

  10 / 4428 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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