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Tytuł :
A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.
Autorzy :
Jiang M; Hangzhou Children's Hospital, Behavioral Pediatric Department &Child Primary Care Department, Hangzhou.
Wang S; Hangzhou Children's Hospital, Behavioral Pediatric Department &Child Primary Care Department, Hangzhou.
Li F; Developmental and Behavioral Pediatric Department & Child Primary Care Department, MOE-Shanghai Key Lab for Children's Enviromental Health, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai.
Geng J; Hangzhou Joingenome Diagnostics, Hangzhou.
Ji Y; Developmental and Behavioral Pediatric Department, Shanghai Children's Hospital, Affiliated To Shanghai Jiaotong University School of Medicine& MOE-Shanghai Key Lab for Children's Environmental Health, Shanghai, China.
Li K; Developmental and Behavioral Pediatric Department, Shanghai Children's Hospital, Affiliated To Shanghai Jiaotong University School of Medicine& MOE-Shanghai Key Lab for Children's Environmental Health, Shanghai, China.
Jiang X; Hangzhou Joingenome Diagnostics, Hangzhou.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Nov 06; Vol. 99 (45), pp. e23033.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Karyotyping/*methods
Microarray Analysis/*methods
Pierre Robin Syndrome/*diagnosis
Pierre Robin Syndrome/*genetics
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adaptor Proteins, Signal Transducing/genetics ; Adolescent ; Adult ; Carrier Proteins/genetics ; Child ; Child, Preschool ; Chromosome Deletion ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/genetics ; Dwarfism/diagnosis ; Dwarfism/genetics ; Female ; Humans ; Infant ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Language Development Disorders/diagnosis ; Language Development Disorders/genetics ; Leukoencephalopathies/diagnosis ; Leukoencephalopathies/genetics ; Male ; Microcephaly/diagnosis ; Microcephaly/genetics ; Nerve Tissue Proteins/genetics ; Origin Recognition Complex/genetics ; Phenotype ; Pierre Robin Syndrome/rehabilitation
Czasopismo naukowe
Tytuł :
Weight Gain in Infants With Pierre Robin Sequence in the First Year of Life.
Autorzy :
Li L; Tufts University School of Medicine, Boston, Massachusetts, USA.
Scott AR; Tufts University School of Medicine, Boston, Massachusetts, USA.; Department of Otolaryngology-Head & Neck Surgery, Tufts Medical Center, Boston, Massachusetts, USA.; Division of Pediatric Otolaryngology and Facial Plastic Surgery, Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts, USA.
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Źródło :
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery [Otolaryngol Head Neck Surg] 2020 Nov; Vol. 163 (5), pp. 1032-1037. Date of Electronic Publication: 2020 May 19.
Typ publikacji :
Journal Article
MeSH Terms :
Growth*
Weight Gain*
Pierre Robin Syndrome/*physiopathology
Birth Weight ; Female ; Humans ; Infant ; Infant, Newborn/growth & development ; Male ; Osteogenesis, Distraction ; Pierre Robin Syndrome/surgery ; Reference Values
Czasopismo naukowe
Tytuł :
[A case of TARP syndrome caused by RBM10 gene variation].
Autorzy :
Ma J; Department of Pulmonary Intervention, Qilu Children's Hospital of Shandong University, Jinan 250022, China.
Liang SX; Department of Cardiothoracic Surgerg, Shenzhen Children's Hospital, Shenzhen 518026, China.
Yan XL; Department of Pulmonary Intervention, Qilu Children's Hospital of Shandong University, Jinan 250022, China.
Li Q; Department of Pulmonary Intervention, Qilu Children's Hospital of Shandong University, Jinan 250022, China.
Zhao MJ; Department of Pulmonary Intervention, Qilu Children's Hospital of Shandong University, Jinan 250022, China.
Liu N; Department of Pulmonary Intervention, Qilu Children's Hospital of Shandong University, Jinan 250022, China.
Li YP; Department of Pulmonary Intervention, Qilu Children's Hospital of Shandong University, Jinan 250022, China.
Meng C; Department of Pulmonary Intervention, Qilu Children's Hospital of Shandong University, Jinan 250022, China.
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Źródło :
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2020 Nov 02; Vol. 58 (11), pp. 941-944.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Clubfoot*/genetics
Heart Defects, Congenital*/genetics
Pierre Robin Syndrome*/genetics
RNA-Binding Proteins*/genetics
Humans
SCR Disease Name :
TARP syndrome
Czasopismo naukowe
Tytuł :
Discussion: Sleep Outcomes in Neonates with Pierre Robin Sequence Undergoing External Mandibular Distraction: A Longitudinal Analysis.
Autorzy :
Pfaff MJ; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles David Geffen School of Medicine.
Lee JC; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles David Geffen School of Medicine.
Lee JC; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles David Geffen School of Medicine.
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Źródło :
Plastic and reconstructive surgery [Plast Reconstr Surg] 2020 Nov; Vol. 146 (5), pp. 1116-1117.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Osteogenesis, Distraction*
Pierre Robin Syndrome*
Humans ; Infant, Newborn ; Mandible ; Sleep
Czasopismo naukowe
Tytuł :
Long-Term Orthognathic Considerations in the Pierre Robin Sequence Patient.
Autorzy :
Pfaff MJ; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
De Leon F; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
Le L; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
Haveles C; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
Liu C; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
Berthiaume E; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
Ayeroff JR; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
Wilson LF; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
Lee JC; From the Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, David Geffen School of Medicine; and the Cleft Palate Program, Orthopaedic Institute for Children.
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Źródło :
Plastic and reconstructive surgery [Plast Reconstr Surg] 2020 Nov; Vol. 146 (5), pp. 599e-606e.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
Cleft Palate/*surgery
Conservative Treatment/*adverse effects
Malocclusion, Angle Class II/*epidemiology
Orthognathic Surgical Procedures/*statistics & numerical data
Pierre Robin Syndrome/*therapy
Adolescent ; Cephalometry/statistics & numerical data ; Cleft Palate/complications ; Conservative Treatment/methods ; Female ; Follow-Up Studies ; Humans ; Male ; Malocclusion, Angle Class II/diagnosis ; Malocclusion, Angle Class II/prevention & control ; Malocclusion, Angle Class II/surgery ; Mandible/anatomy & histology ; Mandible/growth & development ; Mandible/surgery ; Orthognathic Surgical Procedures/methods ; Pierre Robin Syndrome/complications ; Retrospective Studies ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Discussion: Long-Term Orthognathic Considerations in the Pierre Robin Sequence Patient.
Autorzy :
Taylor JA; From the Division of Plastic Surgery, Department of Surgery, Children's Hospital of Philadelphia; and the Division of Plastic Surgery, Department of Surgery, Hospital of the University of Pennsylvania.
Shakir S; From the Division of Plastic Surgery, Department of Surgery, Children's Hospital of Philadelphia; and the Division of Plastic Surgery, Department of Surgery, Hospital of the University of Pennsylvania.
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Źródło :
Plastic and reconstructive surgery [Plast Reconstr Surg] 2020 Nov; Vol. 146 (5), pp. 607e-608e.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Airway Obstruction*
Pierre Robin Syndrome*
Humans ; Patients
Czasopismo naukowe
Tytuł :
Mandibular and Maxillary Cysts in a Pediatric Patient with Pierre Robin Sequence and Ullrich Congenital Muscular Dystrophy.
Autorzy :
Duong KW
Reddy SC
Buchanan EP
Chen JH
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Źródło :
Anesthesiology [Anesthesiology] 2020 Oct 01; Vol. 133 (4), pp. 919-920.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cysts/*diagnostic imaging
Mandible/*diagnostic imaging
Maxilla/*diagnostic imaging
Muscular Dystrophies/*diagnostic imaging
Pierre Robin Syndrome/*diagnostic imaging
Sclerosis/*diagnostic imaging
Child, Preschool ; Cysts/complications ; Cysts/surgery ; Humans ; Mandible/surgery ; Maxilla/surgery ; Muscular Dystrophies/complications ; Muscular Dystrophies/surgery ; Pierre Robin Syndrome/complications ; Pierre Robin Syndrome/surgery ; Sclerosis/complications ; Sclerosis/surgery
SCR Disease Name :
Scleroatonic muscular dystrophy
Czasopismo naukowe
Tytuł :
The use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study.
Autorzy :
Giudice A; Department of Oral and Maxillofacial Surgery, Magna Graecia University of Catanzaro, Viale Europa, Catanzaro, 88100, Italy; Department of Maxillofacial and Plastic Surgery, Necker-Enfants Malades Hospital, 75015 Paris, France. Electronic address: .
Belhous K; Department of Pediatric Radiology, Necker-Enfants Malades Hospital, 75015 Paris, France.
Barone S; Department of Dentistry, Magna Graecia University, 88100 Catanzaro, Italy.
Soupre V; Department of Maxillofacial and Plastic Surgery, Necker-Enfants Malades Hospital, 75015 Paris, France.
Morice A; Department of Maxillofacial and Plastic Surgery, Necker-Enfants Malades Hospital, 75015 Paris, France.
Vazquez MP; Department of Maxillofacial and Plastic Surgery, Necker-Enfants Malades Hospital, 75015 Paris, France.
Boddeart N; Department of Pediatric Radiology, Necker-Enfants Malades Hospital, 75015 Paris, France.
Abadie V; Department of Pediatrics, Necker-Enfants Malades Hospital, 75015 Paris, France.
Picard A; Department of Maxillofacial and Plastic Surgery, Necker-Enfants Malades Hospital, 75015 Paris, France.
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Źródło :
Journal of stomatology, oral and maxillofacial surgery [J Stomatol Oral Maxillofac Surg] 2020 Sep; Vol. 121 (4), pp. 357-362. Date of Electronic Publication: 2019 Sep 06.
Typ publikacji :
Journal Article
MeSH Terms :
Hyoid Bone*/diagnostic imaging
Pierre Robin Syndrome*/diagnostic imaging
Humans ; Imaging, Three-Dimensional ; Infant ; Retrospective Studies ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
Mandibular Distraction in Robin Sequence With Multi-Level Airway Disease: Always Contraindicated?
Autorzy :
Abu-Ghname A; Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine.
Davis MJ; Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine.
Davies LW; Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine.; Division of Plastic Surgery, Texas Children's Hospital.
Masoumy M; Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine.; Division of Plastic Surgery, Texas Children's Hospital.
Mehta DK; Division of Otolaryngology, Department of Surgery.
Heinle JS; Division of Cardiovascular Surgery, Department of Surgery, Baylor College of Medicine, Houston, TX.
Buchanan EP; Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine.; Division of Plastic Surgery, Texas Children's Hospital.
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Źródło :
The Journal of craniofacial surgery [J Craniofac Surg] 2020 Oct; Vol. 31 (7), pp. 1883-1887.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Airway Obstruction/*surgery
Mandible/*surgery
Pierre Robin Syndrome/*surgery
Airway Obstruction/etiology ; Humans ; Infant, Newborn ; Male ; Micrognathism/surgery ; Osteogenesis, Distraction ; Pierre Robin Syndrome/complications ; Reconstructive Surgical Procedures ; Tracheostomy ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Imaging characteristics of the mandible and upper airway in children with Robin sequence and relationship to the treatment strategy.
Autorzy :
Mao Z; Guangzhou Women and Children's Medical Centre, Guangzhou, Guangdong, China.
Zhang N; Guangzhou Women and Children's Medical Centre, Guangzhou, Guangdong, China.
Shu L; Guangzhou Women and Children's Medical Centre, Guangzhou, Guangdong, China.
Cui Y; Guangzhou Women and Children's Medical Centre, Guangzhou, Guangdong, China. Electronic address: .
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Źródło :
International journal of oral and maxillofacial surgery [Int J Oral Maxillofac Surg] 2020 Sep; Vol. 49 (9), pp. 1122-1127. Date of Electronic Publication: 2020 Feb 20.
Typ publikacji :
Journal Article
MeSH Terms :
Airway Obstruction*
Osteogenesis, Distraction*
Pierre Robin Syndrome*
Child ; Humans ; Mandible ; Nose
Czasopismo naukowe
Tytuł :
Airway Morphological Changes in Pierre Robin Sequence: A Retrospective Study.
Autorzy :
Humphries LS; Section of Plastic and Reconstructive Surgery, Department of Surgery, University of Chicago Medical Center, IL, USA.
Roy T; Section of Plastic and Reconstructive Surgery, Department of Surgery, University of Chicago Medical Center, IL, USA.
Huang A; Section of Plastic and Reconstructive Surgery, Department of Surgery, University of Chicago Medical Center, IL, USA.
Collins J; Department of Radiology, University of Chicago Medical Center, IL, USA.
Baroody FM; Section of Otolaryngology, Department of Surgery, University of Chicago Medical Center, IL, USA.
Reid RR; Bernard Sarnat Scholar of Craniofacial Research, Section of Plastic and Reconstructive Surgery, Department of Surgery, University of Chicago Medical Center, IL, USA.
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Źródło :
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2020 Jul; Vol. 57 (7), pp. 828-839. Date of Electronic Publication: 2020 Jan 22.
Typ publikacji :
Journal Article
MeSH Terms :
Airway Obstruction*/surgery
Osteogenesis, Distraction*
Pierre Robin Syndrome*/surgery
Case-Control Studies ; Humans ; Infant ; Mandible/surgery ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Technical note on introducing a digital workflow for newborns with craniofacial anomalies based on intraoral scans - part II: 3D printed Tübingen palatal plate prototype for newborns with Robin sequence.
Autorzy :
Xepapadeas AB; Department of Orthodontics, University Hospital Tuebingen, Osianderstr. 2-8, 72076, Tuebingen, Germany. .; Section 'Medical Materials Science & Technology' University Hospital Tuebingen, Osianderstr. 2-8, 72076, Tuebingen, Germany. .
Weise C; Department of Orthodontics, University Hospital Tuebingen, Osianderstr. 2-8, 72076, Tuebingen, Germany.
Frank K; Department of Orthodontics, University Hospital Tuebingen, Osianderstr. 2-8, 72076, Tuebingen, Germany.
Spintzyk S; Section 'Medical Materials Science & Technology' University Hospital Tuebingen, Osianderstr. 2-8, 72076, Tuebingen, Germany.
Poets CF; Department of Neonatology, University Hospital Tuebingen, Calwerstr. 7, 72076, Tuebingen, Germany.
Wiechers C; Department of Neonatology, University Hospital Tuebingen, Calwerstr. 7, 72076, Tuebingen, Germany.
Arand J; Department of Neonatology, University Hospital Tuebingen, Calwerstr. 7, 72076, Tuebingen, Germany.
Koos B; Department of Orthodontics, University Hospital Tuebingen, Osianderstr. 2-8, 72076, Tuebingen, Germany.
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Źródło :
BMC oral health [BMC Oral Health] 2020 Jun 16; Vol. 20 (1), pp. 171. Date of Electronic Publication: 2020 Jun 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Computer-Aided Design*
Pierre Robin Syndrome*/diagnostic imaging
Pierre Robin Syndrome*/therapy
Printing, Three-Dimensional*
Workflow*
Cleft Palate/*diagnostic imaging
Humans ; Infant ; Infant, Newborn
Czasopismo naukowe
Tytuł :
Weight gain in infants with Pierre Robin sequence.
Autorzy :
Tomic J; Department of Oral and Maxillofacial Surgery, Medical University of Graz, Graz, Austria.
Metzler P; Department of Oral and Maxillofacial Surgery, Medical University of Graz, Graz, Austria.
Alcon A; Division of Plastic and Reconstructive Surgery, Department of Surgery, University of California, San Francisco, CA, USA.
Jakse N; Department of Oral and Maxillofacial Surgery, Medical University of Graz, Graz, Austria.
Zemann W; Department of Oral and Maxillofacial Surgery, Medical University of Graz, Graz, Austria.
Schanbacher M; Department of Oral and Maxillofacial Surgery, Medical University of Graz, Graz, Austria.
Zrnc TA; Department of Oral and Maxillofacial Surgery, Medical University of Graz, Graz, Austria. Electronic address: .
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Źródło :
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery [J Craniomaxillofac Surg] 2020 Jun; Vol. 48 (6), pp. 555-559. Date of Electronic Publication: 2020 Mar 31.
Typ publikacji :
Journal Article
MeSH Terms :
Airway Obstruction*
Osteogenesis, Distraction*
Pierre Robin Syndrome*
Child ; Humans ; Infant ; Retrospective Studies ; Treatment Outcome ; Weight Gain
Czasopismo naukowe
Tytuł :
Family Experience With Pierre Robin Sequence: A Qualitative Study.
Autorzy :
Skirko JR; Division of Pediatric Otolaryngology--Head & Neck Surgery, University of Utah and Primary Children's Hospital, Salt Lake City, UT, USA.
Pollard SH; Division of Pediatric Otolaryngology--Head & Neck Surgery, University of Utah and Primary Children's Hospital, Salt Lake City, UT, USA.
Slager S; Department of Pharmacotherapy, University of Utah, Salt Lake City, UT, USA.
Hung M; College of Dental Medicine, Roseman University of Health Sciences, South Jordan, UT, USA.; Department of Orthopaedic Surgery Operations, University of Utah, Salt Lake City, UT, USA.
Weir C; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
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Źródło :
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2020 Jun; Vol. 57 (6), pp. 736-745. Date of Electronic Publication: 2020 Mar 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Osteogenesis, Distraction*
Pierre Robin Syndrome*
Child ; Child, Preschool ; Humans ; Mandible ; Parents ; Qualitative Research
Czasopismo naukowe
Tytuł :
Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).
Autorzy :
Pinto RO; Department of Orthodontics, School of Dentistry of Araraquara, State University of São Paulo (UNESP), Araraquara.
Peixoto AP; Orthodontist of the Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (USP), Bauru.
Pinto ADS; Department of Orthodontics, School of Dentistry of Araraquara, State University of São Paulo (UNESP), Araraquara.
Richieri-Costa A; Geneticist at the Genetics Sector, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru.
Raveli DB; Department of Orthodontics, School of Dentistry of Araraquara, State University of São Paulo (UNESP), Araraquara.
Tonello C; Department of Otolaryngology, Bauru School of Medicine, University of São Paulo (USP).
Dalben GDS; Pediatric and Community Dentistry Sector, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.
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Źródło :
The Journal of craniofacial surgery [J Craniofac Surg] 2020 Jun; Vol. 31 (4), pp. e356-e359.
Typ publikacji :
Journal Article
MeSH Terms :
Clubfoot*/diagnostic imaging
Clubfoot*/genetics
Hand Deformities, Congenital*/diagnostic imaging
Hand Deformities, Congenital*/genetics
Head*
Hyoid Bone*
Pierre Robin Syndrome*/diagnostic imaging
Pierre Robin Syndrome*/genetics
Posture*
Adolescent ; Cephalometry ; Child ; Cross-Sectional Studies ; DEAD-box RNA Helicases/genetics ; Eukaryotic Initiation Factor-4A/genetics ; Humans ; Infant ; Male ; Sleep Apnea, Obstructive/etiology
SCR Disease Name :
Richieri Costa Pereira syndrome
Czasopismo naukowe
Tytuł :
A comparison of airway interventions and gastrostomy tube placement in infants with Robin sequence.
Autorzy :
El Ghoul K; Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA, USA; Department of Oral and Maxillofacial Surgery, Erasmus Medical Center, Rotterdam, The Netherlands. Electronic address: .
Calabrese CE; Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA, USA.
Koudstaal MJ; Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA, USA; Department of Oral and Maxillofacial Surgery, Erasmus Medical Center, Rotterdam, The Netherlands; Harvard School of Dental Medicine and Harvard Medical School, Boston, MA, USA.
Resnick CM; Department of Oral and Maxillofacial Surgery, Erasmus Medical Center, Rotterdam, The Netherlands; Harvard School of Dental Medicine and Harvard Medical School, Boston, MA, USA.
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Źródło :
International journal of oral and maxillofacial surgery [Int J Oral Maxillofac Surg] 2020 Jun; Vol. 49 (6), pp. 734-738. Date of Electronic Publication: 2019 Nov 06.
Typ publikacji :
Journal Article
MeSH Terms :
Airway Obstruction*
Osteogenesis, Distraction*
Pierre Robin Syndrome*
Boston ; Child ; Female ; Gastrostomy ; Humans ; Infant ; Male ; Mandible/surgery ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
Tytuł :
The Reproducibility of the Jaw Index in the Measurement of Healthy Newborns.
Autorzy :
Mermans JF; Department of Plastic, Reconstructive and Hand Surgery - Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Ghasemi SM; Department of Plastic, Reconstructive and Hand Surgery - Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Lissenberg-Witte BI; Department of Epidemiology and Biostatistics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Don Griot JPW; Department of Plastic, Reconstructive and Hand Surgery - Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
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Źródło :
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2020 May; Vol. 57 (5), pp. 574-580. Date of Electronic Publication: 2019 Nov 21.
Typ publikacji :
Journal Article
MeSH Terms :
Micrognathism*
Pierre Robin Syndrome*
Child ; Cohort Studies ; Humans ; Infant, Newborn ; Mandible ; Observer Variation ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
A Novel Geometric Morphometric Analytical Method for Classifying Mandibular Morphology in Infants With Isolated Pierre Robin Sequence.
Autorzy :
Gao Z; Resident, Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Chen Y; Associate Chief Physician, Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li F; Associate Chief Physician, Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li H; Chief Physician, Radiology Department, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Liu J; Attending Doctor, Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Wu W; Attending Doctor, Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Hao J; Attending Doctor, Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Wang H; Chief Physician, Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. Electronic address: .
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Źródło :
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons [J Oral Maxillofac Surg] 2020 May; Vol. 78 (5), pp. 822.e1-822.e16. Date of Electronic Publication: 2020 Jan 07.
Typ publikacji :
Journal Article
MeSH Terms :
Micrognathism*
Pierre Robin Syndrome*
Cross-Sectional Studies ; Humans ; Infant ; Mandible ; Retrospective Studies
Czasopismo naukowe
Tytuł :
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Autorzy :
Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
de Bruin C; Department of Pediatric Endocrinology, Leiden University Medical Center, Leiden, The Netherlands.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kant SG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Mar; Vol. 182 (3), pp. 431-436. Date of Electronic Publication: 2019 Nov 25.
Typ publikacji :
Journal Article
MeSH Terms :
Hand Deformities, Congenital/*genetics
Hydro-Lyases/*genetics
Pierre Robin Syndrome/*genetics
Polydactyly/*genetics
Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Adolescent ; Alleles ; Child ; Child, Preschool ; Female ; Hand Deformities, Congenital/diagnosis ; Hand Deformities, Congenital/physiopathology ; Humans ; Male ; Mutation/genetics ; Pierre Robin Syndrome/diagnosis ; Pierre Robin Syndrome/physiopathology ; Polydactyly/physiopathology
SCR Disease Name :
Catel Manzke syndrome
Czasopismo naukowe

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