758 results match your criteria Crouzon Syndrome


Anterior Cranial Vault Reconstruction With Distraction for Primary and Secondary Craniosynostosis Repair.

J Craniofac Surg 2018 Nov 30. Epub 2018 Nov 30.

Division of Plastic and Reconstructive Surgery, University of Nebraska Medical Center, Omaha, NE.

Traditional fronto-orbital advancement continues to be a useful operation for correction of craniosynostosis involving the coronal or metopic sutures. Recently, distraction osteogenesis has been used to correct a variety of cranial deformities. Studies have mostly focused on posterior vault distraction due to its simplicity and greater volume gain when compared with anterior vault distraction. Read More

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November 2018
1 Read

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

J Craniomaxillofac Surg 2018 Nov 12. 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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November 2018
1 Read

Perinasal Osteotomy With Distraction Osteogenesis for a Mild Syndromic Craniosynostosis.

J Craniofac Surg 2018 Nov 9. Epub 2018 Nov 9.

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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November 2018
4 Reads

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

Int J Oral Maxillofac Surg 2018 Oct 30. 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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October 2018
3 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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October 2018
8 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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October 2018
3 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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October 2018

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

Dis Model Mech 2018 Nov 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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November 2018
6 Reads

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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October 2018
13 Reads

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

Development 2018 Oct 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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October 2018

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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August 2018
1 Read

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

Plast Reconstr Surg 2018 Nov;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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November 2018
3 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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August 2018
5 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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July 2018
3 Reads

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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September 2018
4 Reads

Serious Complications After Le Fort III Distraction Osteogenesis in Syndromic Craniosynostosis: Evolution of Preventive and Therapeutic Strategies.

J Craniofac Surg 2018 Sep;29(6):1397-1401

Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital.

Background: There is a paucity of studies that report complication rates following a subcranial Le Fort III advancement using distraction osteogenesis. The purpose of this study was to identify and describe serious postoperative complications following Le Fort III advancement with distraction osteogenesis, and provide strategies to assist in the resolution of these complications.

Methods: An observational retrospective study was performed on consecutive patients with Apert, Crouzon, or Pfeiffer syndromes (n = 16) who underwent Le Fort III advancement using distraction osteogenesis between 2008 and 2017. Read More

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September 2018
10 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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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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October 2018
4 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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[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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May 2018
2 Reads

Airway management in a patient with Crouzon syndrome proposed to orthognathic surgery.

BMJ Case Rep 2018 May 30;2018. Epub 2018 May 30.

Oral and maxillofacial surgery, Centro hospitalar e Universitário Coimbra Coimbra Portugal.

Airway management is one of the most important anaesthetist's skills as major complications of airway management, although rare, can be among the most life threatening in medicine. Crouzon syndrome is a rare condition with physical characteristics that can result in difficult airway manipulation. A correct preanaesthetic evaluation and a planned preinduction strategy should be designed to facilitate intubation. Read More

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May 2018
12 Reads

An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.

BMC Med Genet 2018 May 30;19(1):91. Epub 2018 May 30.

Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, People's Republic of China.

Background: FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. However, few reports are available quantifying the orbital volume of Crouzon syndrome and there was little direct evidence to show FGFR2 mutation actually influencing orbital morphology.

Methods: Ten Crouzon syndrome patients underwent a standard ophthalmologic assessment. Read More

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May 2018
2 Reads

An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children.

Int J Pediatr Otorhinolaryngol 2018 Jun 14;109:50-53. Epub 2018 Mar 14.

Department of Otorhinolaryngology, University of Malaya, Kuala Lumpur, Malaysia. Electronic address:

Objective: To study the audiological outcome and early screening of pre-school going children with craniosynostosis under follow-up at the University of Malaya Medical Center(UMMC), Kuala Lumpur, Malaysia over a 10 year period.

Methods: A retrospective descriptive cohort study on the audiological findings detected during the first hearing assessment done on a child with craniosynostosis using otoacoustic emissions, pure tone audiometry or auditory brainstem response examination. The main aim of this study was to evaluate the type and severity of hearing loss when compared between syndromic and non-sydromic craniosynostosis, and other associated contributory factors. Read More

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June 2018
3 Reads

Applications of Computer Technology in Complex Craniofacial Reconstruction.

Plast Reconstr Surg Glob Open 2018 Mar 6;6(3):e1655. Epub 2018 Mar 6.

Department of Plastic Surgery, University of Tennessee Chattanooga College of Medicine, Chattanooga, Tenn.; University of Tennessee Chattanooga College of Medicine, Chattanooga, Tenn.; and Department of Neurosurgery, University of Tennessee Chattanooga College of Medicine, Chattanooga, Tenn.

Background: To demonstrate our use of advanced 3-dimensional (3D) computer technology in the analysis, virtual surgical planning (VSP), 3D modeling (3DM), and treatment of complex congenital and acquired craniofacial deformities.

Methods: We present a series of craniofacial defects treated at a tertiary craniofacial referral center utilizing state-of-the-art 3D computer technology. All patients treated at our center using computer-assisted VSP, prefabricated custom-designed 3DMs, and/or 3D printed custom implants (3DPCI) in the reconstruction of craniofacial defects were included in this analysis. Read More

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Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis.

Orphanet J Rare Dis 2018 Apr 23;13(1):63. Epub 2018 Apr 23.

Center for Cleft Palate & Craniofacial Malformations, Tübingen University Hospital, Tübingen, Germany.

Background: Infants and children with syndromic craniosynostosis (SCS), such as Apert-, Crouzon- or Pfeiffer syndrome, are prone to sleep disordered breathing (SDB) including obstructive sleep apnea and upper airway resistance syndrome (OSAS, UARS), potentially leading to tracheostomy. We modified the Tübingen Palatal Plate (TPP), an oral appliance with a velar extension effectively treating airway obstruction in Robin sequence, by attaching a tube to its velar extension to bridge the narrow pharyngeal airway in SCS patients. Here, we evaluated this treatment concept. Read More

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Distraction osteogenesis in the surgical management of syndromic craniosynostosis: a comprehensive review of published papers.

Br J Oral Maxillofac Surg 2018 Jun 13;56(5):353-366. Epub 2018 Apr 13.

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

Our aim was to summarise current published evidence about the prognosis of various techniques of craniofacial distraction osteogenesis, particularly its indications, protocols, and complications. Published papers were acquired from online sources using the keywords "distraction osteogenesis", "Le Fort III", "monobloc", and "syndromic craniosynostosis" in combination with other keywords, such as "craniofacial deformity" and "midface". The search was confined to publications in English, and we followed the guidelines of the PRISMA statement. Read More

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June 2018
3 Reads

Modified Le Fort III osteotomy: A simple solution to severe midfacial hypoplasia.

J Craniomaxillofac Surg 2018 May 21;46(5):837-843. Epub 2018 Mar 21.

Service of Oral and Maxillofacial Surgery, Hospital Punta Arenas, Chile.

Purpose: There are multiple conditions that may affect the development of the middle third of the face and with varying degrees of severity. The surgical treatment alternatives for major midfacial sagittal deficiencies consist in Le Fort I, II, or III with conventional osteotomies or with distraction osteogenesis (DO). Both techniques have advantages and disadvantages that should be evaluated specifically in each case. Read More

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May 2018
5 Reads

Postoperative Hearing Loss in a Patient With Crouzon Syndrome: A Case Report.

A A Pract 2018 Jun;10(11):310-311

From the Departments of Anesthesiology, Perioperative and Pain Medicine.

Sudden postoperative hearing loss is rare, and thought to be caused by a variety of mechanisms. Here we report on a patient with Crouzon syndrome who experienced multiple episodes of postoperative hearing loss, with persistent hearing loss occurring after she received nitrous oxide as part of a general anesthetic. Nitrous oxide is known to cause pressure changes in closed air spaces. Read More

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Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.

Cleft Palate Craniofac J 2018 Jan 1:1055665618760412. Epub 2018 Jan 1.

1 Department of Genetics and Biotechnology, School of Physical Sciences, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.

Introduction: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1 genes cause the common craniosynostosis syndromes Muenke, Crouzon and Crouzon with acanthosis nigricans, Apert, Pfeiffer, Saethre-Chotzen, and Craniofrontonasal. Overlapping features among craniosynostosis syndromes, phenotypic heterogeneity even within the same syndrome, especially in the case of Muenke syndrome, and inadequate clinical evaluation can lead to misdiagnosis, which molecular testing can help clarify. Read More

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January 2018
11 Reads

Glaucoma With Crouzon Syndrome.

J Glaucoma 2018 Jun;27(6):e110-e112

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Background: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis.

Observation: A 10-year-old female patient with Crouzon syndrome and congenital glaucoma treated with trabeculectomy and ocular hypotensive medications was examined. The patient had proptosis, exposure keratopathy, megalocornea, thin central corneal thickness, a shallow anterior chamber, mild anterior subcapsular cataract, and a cup-to-disc ratio of 0. Read More

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June 2018
16 Reads

Anterior Unilateral Plagiocephaly in Patient with Alagille Syndrome: Case Report.

World Neurosurg 2018 Jun 9;114:37-42. Epub 2018 Mar 9.

Department of Neurosurgery, Torrecárdenas Hospital Complex, Almería, Spain.

Background: The polymalformative syndromes and craniofacial anomalies association is a well-known phenomenon in patients with Crouzon, Pfeiffer, Apert, or Muenke disease. Recently, other less frequent pathologies, such as Alagille syndrome, have shown an association with alterations in the development of cranial sutures, resulting in serious cosmetic defects and neurologic disorders.

Case Description: We report an exceptional case of a 30-month-old girl, a nephroblastoma survivor diagnosed with Alagille syndrome, who was referred to our department with progressive anterior plagiocephaly and premature left coronal suture closure associated with a large compensating right bossing. Read More

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June 2018
11 Reads

Improvement of Color Vision Following Posterior Cranial Vault Distraction for Crouzon Syndrome.

J Craniofac Surg 2018 Jun;29(4):868-870

Department of Plastic Surgery, Medical College of Wisconsin, Milwaukee, WI.

Crouzon syndrome (CS) is one of the craniosynostosis syndromes that leads to early fusion of cranial sutures and increased intracranial pressure. Intracranial hypertension is a serious complication that may lead to vision loss and cognitive impairment. Early detection and management are necessary to prevent complications. Read More

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June 2018
4 Reads

Custom-Made Titanium Miniplates Associated With Ultrahigh-Molecular-Weight Polyethylene Graft in Orthognathic Surgery: An Adjunct to Maxillary Advancement.

J Oral Maxillofac Surg 2018 May 31;76(5):1091.e1-1091.e8. Epub 2018 Jan 31.

Specialist in Oral and Maxillofacial Surgery, Joao de Barros Barreto Hospital, Belém; Master Student in Oral and Maxillofacial Surgery, Federal University of Pará, Belém, PA, Brazil. Electronic address:

Patients with considerable maxillomandibular anteroposterior discrepancies and maxillary hypoplasia require corrective treatment through orthognathic surgery. However, in the treatment of severe maxillary retrognathism, it is necessary to reconstruct areas of bone deficiency through grafting techniques in addition to maxillary advancement using only the Le Fort I osteotomy. Treatment in these patients is more challenging and requires high surgical predictability. Read More

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May 2018
1 Read
1.280 Impact Factor

Surgical Outcome After Less "Rigid" Fixation in Open Cranial Vault Remodeling for Craniosynostosis.

J Craniofac Surg 2018 Jun;29(4):861-867

Department of Plastic and Reconstructive Surgery, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur.

: Open cranial vault remodeling techniques require rigid fixation with hardware such as plates and screws; however, complications can occur. The purpose of this study was to assess the surgical outcome after open reconstruction for craniosynostosis with less rigid fixation using nonabsorbable suture.

Methods: Retrospective review of patients who underwent open craniofacial reconstruction for craniosynostosis at the Hospital Kuala Lumpur between January 2011 and December 2016 were performed. Read More

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June 2018
3 Reads

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

J Appl Genet 2018 May 1;59(2):133-147. Epub 2018 Feb 1.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with the presence of additional clinical symptoms, including hand and feet malformations, skeletal and cardiac defects, developmental delay, and others. Read More

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Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.

Cleft Palate Craniofac J 2018 Feb 14;55(2):296-300. Epub 2017 Dec 14.

1 Division of Plastic Surgery, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided. Read More

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February 2018
3 Reads

Reduced Intercarotid Artery Distance in Syndromic and Isolated Brachycephaly.

Pediatr Neurol 2018 Feb 9;79:3-7. Epub 2017 Oct 9.

Department of Radiology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Introduction: The morphology of the skull base can be altered in craniosynostoses. The objective of this study is to evaluate the reduced intercarotid artery distance in the lacerum segment in patients with syndromic and isolated brachycephaly.

Materials And Methods: The distances between the inner walls of the carotid canal at the lacerum segment were measured on high-resolution CT scans in children with Crouzon (25), Pfeiffer (21), Apert (26), Saethre-Chotzen (7) syndromes, isolated bicoronal synostosis (9), and compared to an age-matched control group (30). Read More

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February 2018
10 Reads

Surgical Correction of Severe Kyphoscoliosis Associated with Crouzon Syndrome with Serious Postoperative Respiratory Problems: A Case Report.

JBJS Case Connect 2017 Oct-Dec;7(4):e98

Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.

Case: A 12-year-old girl with Crouzon syndrome presented to our hospital with scoliosis (114°) and kyphosis from T8 to T12 (138°). After she had been in halo-gravity traction for 2 weeks, we performed posterior correction and fusion surgery from T3 to L3, with a posterior vertebral column resection of T10. She experienced postoperative respiratory failure and remained on a ventilator for 4 weeks. Read More

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December 2017
4 Reads

Choanal Atresia and Craniosynostosis: Development and Disease.

Plast Reconstr Surg 2018 01;141(1):156-168

University Park, Pa.; New York, N.Y.; and Pessac, France From the Department of Anthropology, Pennsylvania State University; the Departments of Genetics and Genomic Sciences and Otolaryngology, Icahn School of Medicine at Mount Sinai; and the University of Bordeaux, Bordeaux Archaeological Sciences Cluster of Excellence.

A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Read More

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January 2018
10 Reads

Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation.

J Oral Maxillofac Surg 2018 Mar 26;76(3):646.e1-646.e12. Epub 2017 Nov 26.

Professor and Senior Consultant, Division of Neurosurgery, Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

Crouzon syndrome (CS) is the most common craniosynostosis syndrome and requires a comprehensive management strategy for the optimization of care and functional rehabilitation. This report presents a case series of 6 pediatric patients diagnosed with CS who were treated with distraction osteogenesis (DO) to treat serious functional issues involving severe orbital proptosis, an obstructed nasopharyngeal airway, and increased intracranial pressure (ICP). Three boy and 3 girls were 8 months to 6 years old at the time of the operation. Read More

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March 2018
9 Reads

[Crouzon syndrome with cerebrospinal rhinorrhea: report of two cases].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2017 Dec;52(12):941-943

Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.

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December 2017
7 Reads

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.

Arq Neuropsiquiatr 2017 Dec;75(12):862-868

Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil.

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. Read More

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December 2017
11 Reads

Sleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome.

Acta Neurol Belg 2017 Dec 12. Epub 2017 Dec 12.

Department of Neurology, School of Medicine, University of Zagreb, Referral Centre of the Ministry of Health of the Republic of Croatia for Epilepsy, University Hospital Centre Zagreb, Kispaticeva 12, Zagreb, 10000, Croatia.

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December 2017
12 Reads

Fibroblast Growth Factor Receptor 2 () Mutation Related Syndromic Craniosynostosis.

Int J Biol Sci 2017 2;13(12):1479-1488. Epub 2017 Nov 2.

Faculty of Health Sciences, University of Macau, Macau SAR, China.

Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 () gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and Seathre-Chotzen-like syndromes. Read More

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July 2018
4 Reads

Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome.

Qual Health Res 2018 Feb 10;28(3):357-370. Epub 2017 Dec 10.

2 University of Washington Bothell, Bothell, Washington, USA.

In the United States, one in 60,000 adults live with Crouzon Syndrome (CS) and facial malformations. Phenomenological studies about their lived experiences and quality of life are lacking. The purpose of this participatory action research study was to gain a richer understanding of the perceived biopsychosocial and socioecological factors that impact quality of life for adults living with CS using Photovoice. Read More

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February 2018
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Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome.

Arch Oral Biol 2018 Feb 27;86:123-130. Epub 2017 Oct 27.

Adelaide Dental School, The University of Adelaide, Adelaide, SA 5005, Australia; Australian Craniofacial Unit, Women's and Children's Hospital, 72 King William St, Adelaide, SA 5006, Australia.

Objectives: Fibroblast growth factor receptor 2 (FGFR2) mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. Our aim was to conduct extensive phenotyping of the maxillary, mandibular and dental morphology associated with this mutation.

Materials And Methods: Morphometric data were obtained from 40 mice, representing two genotypes (Crouzon and wild-type) and two sexes (males and females) (n=10 in each group). Read More

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February 2018
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Three-dimensional imaging of soft and hard facial tissues in patients with craniofacial syndromes: a systematic review of methodological quality.

Dentomaxillofac Radiol 2018 Feb 18;47(3):20170154. Epub 2017 Dec 18.

Department of Oral Health Sciences - Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven , Leuven , Belgium.

Objectives: To systematically review the methodological quality of three-dimensional imaging studies of patients with craniofacial syndromes and to propose recommendations for future research.

Methods: PubMed, Embase and Cochrane databases as well as Grey literature were electronically searched. Inclusion criteria were patients with genetic syndromes with craniofacial manifestations and three-dimensional imaging of facial soft and/or hard tissues. Read More

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February 2018
9 Reads