5,981 results match your criteria Crouzon Syndrome


ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Am J Med Genet A 2019 Feb 13. Epub 2019 Feb 13.

Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.

Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis. Read More

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http://dx.doi.org/10.1002/ajmg.a.61073DOI Listing
February 2019
1 Read

Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

Childs Nerv Syst 2019 Feb 11. Epub 2019 Feb 11.

Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA.

Introduction: Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The syndrome has been divided into three clinical subtypes based on clinical findings.

Methods: This review will specifically examine the most severe type, Pfeiffer syndrome type 2, focusing on its genetics and molecular biology. Read More

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http://dx.doi.org/10.1007/s00381-019-04082-7DOI Listing
February 2019

Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome.

Biomed Rep 2019 Feb 3;10(2):107-112. Epub 2019 Jan 3.

National Key Laboratory of Gene Technology, Institute of Biotechnology, Cau Giay, Ha Noi 10000, Vietnam.

Crouzon syndrome is a rare autosomal dominant genetic disorder, which causes the premature fusion of the cranial suture. Fibroblast growth factor receptor 2 (FGFR2) mutations are well-known causatives of Crouzon syndrome. The current study aimed to assess the gene associated with Crouzon syndrome in a Vietnamese family of three generations and to characterize their associated clinical features. Read More

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http://dx.doi.org/10.3892/br.2019.1181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350211PMC
February 2019
1 Read

Difficult airway management in a patient with Treacher Collins syndrome using two-part surgery.

Rev Esp Anestesiol Reanim 2019 Jan 17. Epub 2019 Jan 17.

Hospital General Dr. Manuel Gea González, Ciudad de México, México.

Treacher Collins syndrome (TCS), Franceschetti-Zwahlen-Klein, or mandibulofacial dysostosis, is a rare disorder of craniofacial development (incidence of approximately 1:50.000 live births). TCS is relevant to the anaesthetist because it can cause difficulties in airway management. Read More

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http://dx.doi.org/10.1016/j.redar.2018.12.003DOI Listing
January 2019
1 Read

Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis.

Childs Nerv Syst 2019 Mar 19;35(3):501-507. Epub 2019 Jan 19.

Craniofacial Unit, Great Ormond Street Hospital, London, UK.

Purpose: Cranial lacunae (foci of attenuated calvarial bone) are CT equivalents of "copper beating" seen on plain skull radiographs in children with craniosynostosis. The qualitative presence of copper beating has not been found to be useful for the diagnosis of intracranial hypertension (IH) in these patients. 3D morphometric analysis (3DMA) allows a more systematic and quantitative assessment of calvarial attenuation. Read More

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http://dx.doi.org/10.1007/s00381-019-04059-6DOI Listing
March 2019
3 Reads

Midface correction in patients with Crouzon syndrome is Le Fort III distraction osteogenesis with a rigid external distraction device the gold standard?

J Craniomaxillofac Surg 2019 Mar 31;47(3):420-430. Epub 2018 Dec 31.

Department of Cranio- and Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany. Electronic address:

Introduction: Le Fort III distraction osteogenesis with a rigid external distraction device is a powerful procedure to correct both exorbitism and impaired airways in faciocraniosynostosis. The aim of this study was to investigate treatment effect, perioperative parameters and volumetric outcomes after Le Fort III distraction osteogenesis in patients with Crouzon syndrome in a retrospective study design and to explore potential strengths and weaknesses of this procedure.

Materials And Methods: From June 2013 to February 2015, a total of nine children with Crouzon syndrome underwent Le Fort III distraction osteogenesis with a rigid external distraction device (RED device, KLS Martin, Tuttlingen, Germany). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10105182183014
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http://dx.doi.org/10.1016/j.jcms.2018.11.028DOI Listing
March 2019
6 Reads

Analysis of Airway and Midface in Crouzon Syndromes.

Ann Plast Surg 2019 Jan 9. Epub 2019 Jan 9.

Department of Plastic Surgery, University of São Paulo, São Paulo, Brazil.

Background: Crouzon syndrome is associated with severe respiratory impairment of the upper airway due in part to midfacial dysmorphology. We calculated the distinctive nasal diameter and pharyngeal airway volume in patients with Crouzon syndrome and compared them with age-matched control subjects.

Methods: Children with computed tomography scans in the absence of surgical intervention were included. Read More

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http://dx.doi.org/10.1097/SAP.0000000000001740DOI Listing
January 2019
2 Reads

Correcting Exorbitism by Monobloc Frontofacial Advancement in Crouzon-Pfeiffer Syndrome: An Age-Specific, Time-Related, Controlled Study.

Plast Reconstr Surg 2019 Jan;143(1):121e-132e

London, United Kingdom; Paris, France; and Uppsala, Sweden From the Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust; Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants-Malades, Service de Chirurgie Maxillofaciale et Plastique, Université Paris Descartes; and the Centre for Image Analysis, Uppsala University.

Background: In FGFR2 craniosynostosis, midfacial hypoplasia features oculo-orbital disproportion and symptomatic exorbitism. Clinical consequences may mandate surgery at a young age to prevent globe subluxation, corneal ulceration, and potential loss of vision. Monobloc osteotomy and distraction osteogenesis (monobloc distraction) seek to correct exorbitism. Read More

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http://dx.doi.org/10.1097/PRS.0000000000005105DOI Listing
January 2019
3 Reads

Optic Nerve Hypoplasia and Crouzon Syndrome.

J Pediatr Ophthalmol Strabismus 2018 Dec 19;55:e45-e48. Epub 2018 Dec 19.

Crouzon syndrome is the most common cause of syndromic craniosynostosis. The authors present a previously unreported association between Crouzon syndrome and optic nerve hypoplasia. A male infant was transferred to the center for treatment of respiratory distress. Read More

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https://www.healio.com/doiresolver?doi=10.3928/01913913-2018
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http://dx.doi.org/10.3928/01913913-20181012-02DOI Listing
December 2018
9 Reads

Reliable manifestations of increased intracranial pressure in patients with syndromic craniosynostosis.

J Craniomaxillofac Surg 2019 Jan 12;47(1):158-164. Epub 2018 Nov 12.

Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address:

Purpose: Systematic examination of increased intracranial pressure (ICP) is important during the follow-up period after surgical repair of syndromic craniosynostosis. In these patients, postoperative progress can be unclear due to the involvement of multiple sutures and the high incidence of relapse due to the progressive nature of the disease and to genetic variability. In this study, we investigated the clinical manifestations of increased ICP in syndromic craniosynostosis patients before and after surgery. Read More

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http://dx.doi.org/10.1016/j.jcms.2018.10.021DOI Listing
January 2019
1 Read

Assessment of Bioabsorbable Hydroxyapatite for Cranial Defect in Children.

J Craniofac Surg 2019 Jan;30(1):e58-e60

Department of Plastic and Reconstructive Surgery.

Purpose: To evaluate the utility and efficacy of bioabsorbable hydroxyapatite and collagen complex (HA/Col) for cranioplasty repair of cranial bone defects in children.

Methods: Two patients (a 6-year-old male and 11-year-old female) with Treacher Collins syndrome received zygoma and orbital floor reconstruction using a full thickness of parietal bone. The bone grafts were taken from each patient's parietal cranium. Read More

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http://Insights.ovid.com/crossref?an=00001665-900000000-9523
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http://dx.doi.org/10.1097/SCS.0000000000004974DOI Listing
January 2019
5 Reads

Perinasal Osteotomy With Distraction Osteogenesis for a Mild Syndromic Craniosynostosis.

J Craniofac Surg 2019 Jan;30(1):50-52

Department of Plastic and Reconstructive Surgery, Yokohama City University Hospital, Yokohama, Japan.

Le Fort II and III procedures have generally been performed for syndromic craniosynostosis with midfacial hypoplasia and skeletal class III malocclusion. However, some patients have midfacial hypoplasia without malocclusion. Perinasal osteotomy was performed with distraction osteogenesis to move the midface forward in 2 patients (a 17-year old female patient with Crouzon-like disease and a 15-year-old female patient with Antely-Bixler syndrome) with mild midface hypoplasia without malocclusion. Read More

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http://Insights.ovid.com/crossref?an=00001665-900000000-9525
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http://dx.doi.org/10.1097/SCS.0000000000004898DOI Listing
January 2019
11 Reads

Revisiting the Many Names of Freeman-Sheldon Syndrome.

J Craniofac Surg 2018 Nov;29(8):2176-2178

Department of Surgery, Georgetown University, Washington, DC.

While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis. Having previously provided evidence for FSS being a complex myopathic craniofacial syndrome with extra-craniofacial features in most patients, the rationale for revising the FSS eponym and supplanting the current official designation with a new one was based on considerations for educational usefulness, historical accuracy, communication fluency, and nosologic clarity underpinned by genetic, pathologic, and operative experience and outcomes. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004802DOI Listing
November 2018
0.680 Impact Factor

Orbit, zygoma, and maxilla growth patterns in Crouzon syndrome.

Int J Oral Maxillofac Surg 2019 Mar 30;48(3):309-321. Epub 2018 Oct 30.

Section of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, Connecticut, USA. Electronic address:

The facial malformations of Crouzon syndrome involve the entire cranio-orbito-zygomatic region. The detailed sequence of changes in orbit, zygoma, and maxilla over time, the mutual influence among these three anatomical structures, and their relationship with the cranial base were studied to determine the sequence and timing of deformity. Preoperative CT scans of 36 patients with Crouzon syndrome (mean age 10. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09015027183042
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http://dx.doi.org/10.1016/j.ijom.2018.10.013DOI Listing
March 2019
14 Reads

Bilambdoid and sagittal synostosis: Report of 39 cases.

Surg Neurol Int 2018 11;9:206. Epub 2018 Oct 11.

Craniofacial Unit, Department of Pediatric Neurosurgery, Hôpital Necker-Enfants Malades, Paris, France.

Background: Bilambdoid and sagittal synostosis (BLSS), also called "Mercedes Benz synostosis," is a multisutural craniosynostosis that has been described as a specific entity. However, this synostotic pattern can also be found in syndromic craniostenosis. To better define this entity we reviewed our experience with bilambdoid and sagittal synostosis. Read More

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http://dx.doi.org/10.4103/sni.sni_454_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194734PMC
October 2018
16 Reads

Prevention of recurrence post leptomeningeal cyst repair.

Neurosciences (Riyadh) 2018 Oct;23(4):338-342

Department of Neurosurgery, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail:

Leptomeningeal cysts, which are cystic collections filled with cerebrospinal fluid, are rare complications following pediatric head trauma and surgical correction of craniosynostosis. These cysts develop due to cerebrospinal fluid pulsations and brain growth that cause expansion of the dural tears. Although primary repair of the dural defect is the definitive treatment, the risk of cyst recurrence remains. Read More

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http://dx.doi.org/10.17712/nsj.2018.4.20180242DOI Listing
October 2018
10 Reads

Copper Beaten Skull.

J Pediatr 2018 Oct 19. Epub 2018 Oct 19.

Pandit BD Sharma Post Graduate Institute of Medical Sciences Rohtak, Haryana, India.

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http://dx.doi.org/10.1016/j.jpeds.2018.09.041DOI Listing
October 2018
4 Reads

Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.

Cleft Palate Craniofac J 2018 Oct 21:1055665618806379. Epub 2018 Oct 21.

3 Craniofacial Team, Children's Hospital, New Orleans, LA, USA.

We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene. Both cases were initially thought to have alternative disorders but were later correctly diagnosed through whole-exome sequencing. These cases expand upon our knowledge of the phenotypic spectrum in patients with MFDM, which will aid in defining the full phenotype of this disorder and increase awareness of this condition. Read More

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http://journals.sagepub.com/doi/10.1177/1055665618806379
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http://dx.doi.org/10.1177/1055665618806379DOI Listing
October 2018
24 Reads

In Their Own Words: Caregiver and Patient Perspectives on Stressors, Resources, and Recommendations in Craniofacial Microsomia Care.

J Craniofac Surg 2018 Nov;29(8):2198-2205

Centre for Appearance Research, University of the West of England, Bristol, UK.

This study describes stressors, resources, and recommendations related to craniofacial microsomia (CFM) care from the perspective of caregivers of children with CFM and adults with CFM to inform improved quality of healthcare delivery. A mixed method design was used with fixed-response and open-ended questions from an online survey in English. The survey included demographics, CFM phenotypic information, and items about CFM-related experiences across settings. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224304PMC
November 2018
1 Read

Overexpression of causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse.

Dis Model Mech 2018 11 9;11(11). Epub 2018 Nov 9.

Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

FGFR2c regulates many aspects of craniofacial and skeletal development. Mutations in the gene are causative of multiple forms of syndromic craniosynostosis, including Crouzon syndrome. Paradoxically, mouse studies have shown that the activation (; a mouse model for human Crouzon syndrome), as well as the removal (), of the FGFR2c isoform can drive suture abolishment. Read More

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http://dmm.biologists.org/lookup/doi/10.1242/dmm.035311
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http://dx.doi.org/10.1242/dmm.035311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262810PMC
November 2018
8 Reads

Discussion: Incidents of Mandibular Distraction Osteogenesis for Hemifacial Microsomia.

Authors:
Larry H Hollier

Plast Reconstr Surg 2018 10;142(4):1009-1010

Houston, Texas From the Division of Plastic Surgery, Texas Children's Hospital and Baylor College of Medicine.

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http://Insights.ovid.com/crossref?an=00006534-201810000-0003
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http://dx.doi.org/10.1097/PRS.0000000000004813DOI Listing
October 2018
1 Read

Normative Data of the Interorbital Distance in Thai Population.

J Craniofac Surg 2018 Oct;29(7):1939-1944

Department of Radiology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

The incidence of the patients with craniofacial anomalies was high in southeast-Asian countries, for example, fronto-ethmoidal encephalo-menigocele or craniosynostosis. These craniofacial anomalies usually involve orbits, so a surgical orbital reconstruction is always required.Various methods have been used in the past to indirectly analyze the craniofacial region. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005050DOI Listing
October 2018
22 Reads

Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects.

Development 2018 10 5;145(19). Epub 2018 Oct 5.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA

Midface dysgenesis is a feature of more than 200 genetic conditions in which upper airway anomalies frequently cause respiratory distress, but its etiology is poorly understood. Mouse models of Apert and Crouzon craniosynostosis syndromes exhibit midface dysgenesis similar to the human conditions. They carry activating mutations of , which is expressed in multiple craniofacial tissues during development. Read More

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http://dx.doi.org/10.1242/dev.166488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198473PMC
October 2018
2 Reads

Goldenhar Syndrome - ophthalmologist's perspective.

Rom J Ophthalmol 2018 Apr-Jun;62(2):96-104

Emergency Eye Hospital, Bucharest, Romania.

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease arising from the abnormal development of the first and second branchial arches. The incidence is between 1:3500 and 1:5600, with a male: female ratio of 3:2. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknown aspects. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117527PMC
February 2019
15 Reads

Etiology and Pathogenesis of Hemifacial Microsomia.

J Dent Res 2018 Nov 11;97(12):1297-1305. Epub 2018 Sep 11.

1 Department of Oral and Craniomaxillofacial Surgery, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial region. There are 3 possible pathogenic models of HFM-vascular abnormality and hemorrhage in the craniofacial region, damage to Meckel's cartilage, and the abnormal development of cranial neural crest cells-and the most plausible hypothesis is the vascular abnormality and hemorrhage model. These 3 models are interrelated, and none of them is completely concordant with all the variable manifestations of HFM. Read More

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http://journals.sagepub.com/doi/10.1177/0022034518795609
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http://dx.doi.org/10.1177/0022034518795609DOI Listing
November 2018
6 Reads

Crouzon syndrome: Genetic and intervention review.

J Oral Biol Craniofac Res 2019 Jan-Mar;9(1):37-39. Epub 2018 Aug 29.

Department of Oro-Maxillofacial Clinical Science, Faculty of Dentistry, University of Malaya, 50603, Kuala Lumpur, Malaysia.

Crouzon syndrome exhibits considerable phenotypic heterogeneity, in the aetiology of which genetics play an important role. mediates extracellular signals into cells and the mutations in the gene cause this syndrome occurrence. Activated signaling disrupts the balance of differentiation, cell proliferation, and apoptosis via its downstream signal pathways. Read More

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http://dx.doi.org/10.1016/j.jobcr.2018.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128172PMC
August 2018
2 Reads

Palliation in pediatric otorhinolaryngology.

Int J Pediatr Otorhinolaryngol 2018 Oct 11;113:22-25. Epub 2018 Jul 11.

Division of Palliative Medicine, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

Palliation in pediatric otorhinolaryngology is a rarely discussed but important aspect of care. This review encapsulates current thinking on pediatric palliative care (PC) and demonstrates, through one case, the impact of integrating PC into clinical care. We encourage early consideration of pediatric palliative care approaches for children with complex otorhinolaryngologic disorders. Read More

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http://dx.doi.org/10.1016/j.ijporl.2018.07.016DOI Listing
October 2018
10 Reads

Goldenhar syndrome with blepharophimosis and limb deformities: a case report.

BMC Ophthalmol 2018 Aug 22;18(1):206. Epub 2018 Aug 22.

Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, No.639 ZhizaojuRoad, Shanghai, 200025, People's Republic of China.

Background: Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Read More

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https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12
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http://dx.doi.org/10.1186/s12886-018-0872-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106733PMC
August 2018
15 Reads
1.075 Impact Factor

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.

Congenit Anom (Kyoto) 2018 Aug 22. Epub 2018 Aug 22.

Department of Maternal and Fetal Medicine, Miyagi Children's Hospital, Sendai, Japan.

The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We conducted a 5-year, multicenter retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. Of 41 cases, 30 cases (73%) were syndromic craniosynostosis, eight cases (20%) were non-syndromic craniosynostosis and the other three cases (7%) were secondary craniosynostosis of chromosomal deletion syndromes. Read More

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http://dx.doi.org/10.1111/cga.12308DOI Listing
August 2018
2 Reads

Intracranial Volume and Head Circumference in Children with Unoperated Syndromic Craniosynostosis.

Plast Reconstr Surg 2018 11;142(5):708e-717e

London, United Kingdom From the University College London Great Ormond Street Institute of Child Health & Craniofacial Unit, Great Ormond Street Hospital for Children, NHS Trust.

Background: When analyzing intracranial volume gain resulting from operative intervention in craniosynostosis, it is necessary to understand the underlying growth. The authors sought to create comprehensive intracranial volume and occipitofrontal circumference growth charts, as measured on unoperated craniosynostotic children, and aimed to investigate whether intracranial volume and occipitofrontal circumference could act as proxy measures for each other.

Methods: All preoperative Great Ormond Street Hospital patients with a diagnosis of Apert, Crouzon-Pfeiffer, or Saethre-Chotzen syndrome from the year 2004 onward were considered for this study. Read More

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http://Insights.ovid.com/crossref?an=00006534-201811000-0003
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http://dx.doi.org/10.1097/PRS.0000000000004843DOI Listing
November 2018
5 Reads

Digital-Facial Translocation in Amniotic Band Sequence: Evidence of the Intrinsic Theory.

J Craniofac Surg 2018 Oct;29(7):1890-1892

Department of Plastic Surgery, Wake Forest Baptist Medical Center, Winston-Salem, NC.

Amniotic band sequence is a complex congenital anomaly in which infants with typically no known genetic mutation have bands of maternal amniotic tissue wrapped around body parts, most commonly the limbs and digits. The authors report a novel variation on this presentation in 3 patients from 2 centers with complex craniofacial clefting and amniotic band sequence. They presented with hypertelorism, different forms of complex craniofacial clefting, and bands connecting ipsilateral hands to facial clefts, with digital-facial translocation in 2 cases. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004817DOI Listing
October 2018
8 Reads

Genome-Wide Association Study in Craniosynostosis Condition Using Innovative Systematic Bioinformatic Analysis Tools and Techniques: Future Prospective and Clinical Practice.

J Pediatr Neurosci 2018 Apr-Jun;13(2):170-175

Department of Cardiac Anaesthesia, All India Institute of Medical Sciences, New Delhi, India.

Background: Craniosynostosis (CS) conditions are included with the premature fusion of one or more multiple cranial sutures. As the second leading and most common craniofacial anomaly and orofacial clefts globally. Syndromic and nonsyndromic CS (NSCS) occur as a part of a genetic syndrome unlike Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen syndromes. Read More

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http://dx.doi.org/10.4103/jpn.JPN_71_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057197PMC
August 2018
6 Reads

C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.

PLoS One 2018 26;13(7):e0201492. Epub 2018 Jul 26.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.

Activating mutations of fibroblast growth factor receptors (FGFRs) are a major cause of skeletal dysplasias, and thus they are potential targets for pharmaceutical intervention. BMN 111, a C-type natriuretic peptide analog, inhibits FGFR signaling at the level of the RAF1 kinase through natriuretic peptide receptor 2 (NPR2) and has been shown to lengthen the long bones and improve skull morphology in the Fgfr3Y367C/+ thanatophoric dysplasia mouse model. Here we report the effects of BMN 111 in treating craniosynostosis and aberrant skull morphology in the Fgfr2cC342Y/+ Crouzon syndrome mouse model. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201492PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062116PMC
January 2019
4 Reads

Discussion: Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome.

Plast Reconstr Surg 2018 08;142(2):458-462

New Haven, Conn. From Plastic and Reconstructive Surgery, Craniomaxillofacial Surgery, Yale School of Medicine.

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http://dx.doi.org/10.1097/PRS.0000000000004625DOI Listing
August 2018
3 Reads

Incidents of Mandibular Distraction Osteogenesis for Hemifacial Microsomia.

Plast Reconstr Surg 2018 10;142(4):1002-1008

Beijing, People's Republic of China From the Department of Maxillofacial Surgery, Plastic Surgery Hospital and Institute, Chinese Academy of Medical Sciences, Peking Union Medical College.

Background: This study focused mainly on the safety and unexpected incidents of mandibular distraction osteogenesis in treating patients with hemifacial microsomia.

Methods: Records of 71 patients with hemifacial microsomia treated by mandibular distraction osteogenesis from February of 2010 to March of 2015 were examined in this retrospective study. The modified mandibular osteotomy was conducted under the assistance of three-dimensional reconstruction, computer-aided design, and rapid prototyping technique. Read More

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http://dx.doi.org/10.1097/PRS.0000000000004812DOI Listing
October 2018
2 Reads

Craniofacial Microsomia: Orthodontic Surgical Treatment of Growing Patients.

J Craniofac Surg 2018 Sep;29(6):1426-1429

Luis Calvo Mackenna Hospital.

Craniofacial microsomia covers a set of morphogenetic anomalies that affect structures arising from the first and second brachial arches. Due to the vast phenotypic variation and complexity of the malformation, a global treatment that is coordinated by a multidisciplinary team is imperative. Herein, the authors describe 3 clinical patients and discuss the different therapies used according to the type of microsomia present. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004821DOI Listing
September 2018

Hypertelorism Secondary to Mucocele in the Paranasal Sinuses.

J Craniofac Surg 2018 Sep;29(6):1655-1656

Division of Surgery, Surgical Department II, University Hospital of Maracaibo, Maracaibo, Venezuela.

Ocular hypertelorism was introduced by Greig as an increased interpupillary distance. The paranasal sinus mucoceles are acquired lesions for various reasons; however, their behavior is progressive, capable of eroding the bone and extending to the orbital and intracranial regions. The objective is to present a clinical case of orbital hypertelorism secondary to mucocele in the paranasal sinuses. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004798DOI Listing
September 2018
3 Reads
0.680 Impact Factor

Dental consequences of pterygomaxillary dysjunction during fronto-facial monobloc advancement with internal distraction for Crouzon syndrome.

J Craniomaxillofac Surg 2018 Sep 8;46(9):1476-1479. Epub 2018 Jun 8.

Assistance Publique - Hôpitaux de Paris, Service de neurochirurgie, Unité fonctionnelle de chirurgie craniofaciale (head: Pr. Michel Zerah), Hôpital Universitaire Necker - Enfants Malades, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Clinique Marcel Sembat, Ramsay - Générale de Santé, Boulogne-Billancourt, France.

Crouzon syndrome is a syndromic faciocraniosynostosis that can be associated with severe fronto-facial retrusion leading to major functional impairments: extreme exorbitism may be vision-threatening and severe respiration impairment can be life-threatening. The procedure of choice for the primary correction of this retrusion is fronto-facial monobloc advancement (FFMBA) with internal or external distraction. FFMBA involves pterygomaxillary dysjunction (PMD), using either a superior or an intra-oral approach. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10105182183038
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http://dx.doi.org/10.1016/j.jcms.2018.06.003DOI Listing
September 2018
6 Reads

Atypical Skin Manifestations in -Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

Mol Syndromol 2018 May 24;9(3):149-153. Epub 2018 Apr 24.

Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, SA, Australia.

Crouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 () gene. CS is more common (1 in 60,000 live births) than BSS, where fewer than 20 individuals have been reported. The cardinal features of BSS are craniosynostosis, cutis gyrata, acanthosis nigricans, skin furrows, skin tags, anogenital anomalies, and a prominent umbilical stump. Read More

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http://dx.doi.org/10.1159/000488439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006653PMC
May 2018
4 Reads

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Clin Genet 2018 Oct 23;94(3-4):373-380. Epub 2018 Jul 23.

Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.

By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified six missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig-like C2-type domain. Read More

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http://doi.wiley.com/10.1111/cge.13409
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http://dx.doi.org/10.1111/cge.13409DOI Listing
October 2018
6 Reads

Complexity of the 5' Untranslated Region of , a Critical Factor for Craniofacial and Neural Development.

Front Genet 2018 25;9:149. Epub 2018 Apr 25.

Centro de Estudos do Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

Repeats in coding and non-coding regions have increasingly been associated with many human genetic disorders, such as Richieri-Costa-Pereira syndrome (RCPS). RCPS, mostly characterized by midline cleft mandible, Robin sequence and limb defects, is an autosomal-recessive acrofacial dysostosis mainly reported in Brazilian patients. This disorder is caused by decreased levels of , mostly due to an increased number of repeats at the 5'UTR. Read More

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http://dx.doi.org/10.3389/fgene.2018.00149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996909PMC
April 2018
7 Reads

Modified Lefort Distraction Osteogenesis for the Treatment of Nager Syndrome-Associated Midface Hypoplasia: Technique and Review.

J Craniofac Surg 2018 Sep;29(6):e621-e623

Division of Plastic and Reconstructive Surgery, School of Medicine, University of Utah, Salt Lake City, UT.

The surgical management of midface hypoplasia in the setting of Nager syndrome remains a significant challenge for craniofacial surgeons. This study describes a novel technique using distraction osteogenesis and modified osteotomies for the treatment of midface bony defects in an 11-year-old child with Nager syndrome.Presurgical 3-dimensional planning was performed to design the osteotomies and placement of distractors. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004713DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116787PMC
September 2018
8 Reads

Part 2: Is the maxillary canting and its surgical correction in patients with CFM correlated to the mandibular deformity?

J Craniomaxillofac Surg 2018 Sep 24;46(9):1436-1440. Epub 2018 May 24.

The Dutch Craniofacial Centre, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center (Head of Department: Professor Eppo B. Wolvius), Sophia's Children's Hospital, Rotterdam, The Netherlands; Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, USA; Craniofacial Unit, Great Ormond Street Hospital, London, United Kingdom.

Introduction: Patients with Craniofacial Microsomia (CFM) mandibles Types I/IIa benefit from combined LeFort 1 osteotomy and Mandibular Distraction Osteogenesis (LeFort + MDO); Type IIb from LeFort + MDO or Bimaxillary osteotomy (BiMax); and Type III from BiMax (with 50% of cases having preceding mandibular procedures, including patient-fitted prosthesis); as seen in Part 1. This leads to the question how maxillary and mandibular hypoplasia are correlated and influence the types of maxillary correction.

Material And Methods: A retrospective chart study was conducted including patients diagnosed with CFM from 2 large craniofacial units. Read More

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http://dx.doi.org/10.1016/j.jcms.2018.05.044DOI Listing
September 2018
18 Reads

Surgical correction of the midface in craniofacial microsomia. Part 1: A systematic review.

J Craniomaxillofac Surg 2018 Sep 25;46(9):1427-1435. Epub 2018 May 25.

Department of Plastic and Oral Surgery, (Head of department: Bonnie L. Padwa, DMD, MD), Boston Children's Hospital, Boston, United States.

Introduction: Mandibular reconstruction in craniofacial microsomia (CFM) has been described and reviewed at length although final results are not always (aesthetically) satisfactory due to maxillo-mandibular asymmetry, for which optimal correction techniques remain unclear. The aim of this systematic review is to provide an overview of the surgical options for maxillary correction in patients with unilateral CFM.

Material And Methods: MEDLINE/Pubmed, Embase, Cochrane and Web of Science databases were searched up to April 15, 2017. Read More

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http://dx.doi.org/10.1016/j.jcms.2018.05.043DOI Listing
September 2018
19 Reads

One-Year Relapse of Mandibular Distraction for Hemifacial Microsomia Using Masseteric Botulinum Toxin Type A Injections.

J Craniofac Surg 2018 Oct;29(7):1737-1741

Maxillo-facial Surgery Center, Plastic Surgery Hospital.

Background: The relapse of hemifacial microsomia was thought to be highly related to the soft tissue envelope around the mandible angle mainly composed by masseter and medial pterygoid. According to the reason, we tried to apply masseter injection of type A botulinum toxin to weaken the soft envelope tension on the early stage post mandible distraction in adult HFM patients.

Methods: Eight patients diagnosed with HFM were studied and randomly assigned to an experimental or control group. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004687DOI Listing
October 2018
37 Reads

Crouzon Syndrome Associated with Congenital Coarctation of Aorta.

Authors:
Bing Meng Hui Zhang

Chin Med J (Engl) 2018 Jun;131(12):1498-1499

Department of Cardiac Surgery, Children's Hospital Affiliated to the Capital Institute of Pediatrics, Beijing 100020, China.

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http://dx.doi.org/10.4103/0366-6999.233963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006823PMC
June 2018
1 Read

Comprehensive consideration and design with the virtual surgical planning-assisted treatment for hemifacial microsomia in adult patients.

J Craniomaxillofac Surg 2018 Aug 9;46(8):1268-1274. Epub 2018 May 9.

State Key Laboratory of Oral Diseases and Center of Orthognathic & TMJ Surgery, West China Stomatology, Sichuan University, Chengdu, China. Electronic address:

Purpose: Hemifacial microsomia (HFM) is a frequently encountered congenital malformation syndrome involving both hard and soft tissue. Various surgical methods have been described to correct the deformities of HFM in the literature. This study aims to evaluate the therapeutic efficacy for HFM with the assistance of virtual surgical planning (VSP) and 3-dimensionally printed surgical templates. Read More

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http://dx.doi.org/10.1016/j.jcms.2018.05.004DOI Listing
August 2018
5 Reads

[Crouzon syndrome coupled with OSAHS and congenital heart disease: a case report].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 May;32(10):787-788

A case of Crouzon syndrome coupled with OSAHS and congenital heart disease in our hospital was reported. The patient who was a 2 years and 7 months old boy, was admitted in our hospital for repetitive sore throat, snoring with mouth breathing during sleep for more than 2 years and been found with some typical defect of Crouzon syndrome during physical examination. Half a year ago the boy underwent ventricular septal defect closure surgery. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2018.10.015DOI Listing
May 2018
4 Reads