6,007 results match your criteria Crouzon Syndrome


An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.

Mol Syndromol 2019 Feb 21;10(1-2):98-114. Epub 2018 Jul 21.

Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.

Neural crest stem/progenitor cells (NCSCs) populate a variety of tissues, and their dysregulation is implicated in several human diseases including craniosynostosis and neuroblastoma. We hypothesised that small molecules that inhibit NCSC induction or differentiation may represent potential therapeutically relevant drugs in these disorders. We screened 640 FDA-approved compounds currently in clinical use for other conditions to identify those which disrupt development of NCSC-derived skeletal elements that form the zebrafish jaw. Read More

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https://www.karger.com/Article/FullText/491567
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http://dx.doi.org/10.1159/000491567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422125PMC
February 2019
3 Reads

Necrotizing fasciitis of the neck and head complicated with chronic osteomyelitis: Case report presentation.

Int J Surg Case Rep 2019 Mar 26. Epub 2019 Mar 26.

Hospital Angeles del Pedregal, Mexico; Hospital Infantil de México Federico Gómez, Mexico.

Introduction: Necrotizing fasciitis (NF) is a severe infectious condition associated with significant morbidity and mortality and characteristically has a higher incidence in adults; pediatric cases are very rare. In this case report we describe, the clinical presentation, management and outcome of a patient with necrotizing fasciitis of the neck and head complicated with chronic osteomyelitis.

Presentation Of The Case: An 18 month-old, latin, male, diagnosed with rickets and Crouzon syndrome, twenty-four hours post- craniofacial remodeling surgery presented tissue edema, indurated skin and violaceous and well delimited lesions in the neck and head. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22102612193014
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http://dx.doi.org/10.1016/j.ijscr.2019.03.025DOI Listing
March 2019
4 Reads

What Is the Skull Structure Influence of Squamosal Suture Synostosis in Nonsyndromic and Syndromic Crouzon Craniosynostosis?

J Craniofac Surg 2019 Apr 2. Epub 2019 Apr 2.

Section of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT.

Background: The morphologic effect of squamosal synostosis has not been clarified, due to its low occurrence rate, and its inclination to be combined with premature closure of other major sutures, especially in syndromic synostosis. This study's goal is to explore the morphological influence of squamosal synostosis in both syndromic and nonsyndromic craniosynostosis patients.

Methods: Twenty-five computed tomography (CT) scans from nonsyndromic squamosal synostosis (NSS), Crouzon syndrome with squamosal synostosis (CSS), Crouzon syndrome without squamosal synostosis, and normal controls were included. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005396DOI Listing
April 2019
3 Reads

[Obstructive hydrocephalus and Crouzon syndrome].

J Fr Ophtalmol 2019 Apr 26;42(4):e165-e168. Epub 2019 Mar 26.

Service d'ophtalmologie du CHU de Bordeaux, CHU de Bordeaux, place Amélie-Raba-Léon, 33000 Bordeaux, France.

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http://dx.doi.org/10.1016/j.jfo.2018.08.012DOI Listing

Craniofacial Microsomia.

Clin Plast Surg 2019 Apr;46(2):207-221

Craniofacial Pediatrics, Seattle Children's Hospital, 4800 Sand Point Way, M/S OB.9.528, PO Box 5371, Seattle, WA 98105, USA.

Clinicians use different diagnostic terms for patients with underdevelopment of facial features arising from the embryonic first and second pharyngeal arches, including first and second branchial arch syndrome, otomandibular dysostosis, oculoauriculovertebral syndrome, and hemifacial microsomia. Craniofacial microsomia has become the preferred term. Although no diagnostic criteria for craniofacial microsomia exist, most patients have a degree of underdevelopment of the mandible, maxilla, ear, orbit, facial soft tissue, and/or facial nerve. Read More

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http://dx.doi.org/10.1016/j.cps.2018.12.001DOI Listing
April 2019
2 Reads

Orthodontic-Orthopedic-Surgical Treatment of Syndromic Third Class: Proposal of a New Craniofacial Cephalometric Method.

J Craniofac Surg 2019 Feb 25. Epub 2019 Feb 25.

Department of Oral and Maxillofacial Sciences, Sapienza University of Rome, Rome, Italy.

The management of patients suffering from class III due to syndromic craniosynostosis requires a multidisciplinary team to prevent and correct the complex clinical features related to the syndrome. Among the main clinical features, the midface hypoplasia requires surgical advancement with a rigid external distraction device. The comparison of pre- and postdistraction lateral cephalometries is often difficult in these patients, because the craniofacial advancement mobilizes the landmarks routinely used in cephalometry. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005253DOI Listing
February 2019
5 Reads

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Am J Med Genet A 2019 Apr 27;179(4):668-673. Epub 2019 Feb 27.

Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan.

In 2011, biallelic loss-of-function variants in the interleukin receptor 11 alpha gene IL11RA were found to be associated with a Crouzon-like craniosynostosis syndrome with associated dental anomalies (CRSDA). Since then, a total of 41 similar patients have been reported with IL11RA variants. We report two adult brothers diagnosed with Crouzon syndrome as children, in which the clinical diagnosis of CRSDA was made on reevaluation. Read More

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http://dx.doi.org/10.1002/ajmg.a.61070DOI Listing
April 2019
3 Reads
2.159 Impact Factor

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

Am J Med Genet A 2019 Apr 13;179(4):615-627. 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
April 2019
3 Reads

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
2 Reads

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
16 Reads

Discussion: Retrospective Review of the Complication Profile Associated with 71 Subcranial and Transcranial Midface Distraction Procedures at a Single Institution.

Authors:
Richard A Hopper

Plast Reconstr Surg 2019 02;143(2):531-532

Seattle, Wash. From the Division of Plastic Surgery, University of Washington; and the Craniofacial Center, Seattle Children's Hospital.

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http://dx.doi.org/10.1097/PRS.0000000000005281DOI Listing
February 2019

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

Rev Esp Anestesiol Reanim 2019 Apr 17;66(4):230-234. 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
April 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
10 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
12 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

Preferential Associated Malformation in Patients With Anotia and Microtia.

J Craniofac Surg 2019 Jan;30(1):66-70

Nagata Microtia and Reconstructive Plastic Surgery Clinic, Saitama, Japan.

Objective: Few epidemiological studies have investigated the external ear malformations anotia and microtia. The authors' study aimed to investigate the relationships between age, sex, type of microtia, and birth place and associated malformation as seen in 1 private Japanese clinic.

Methods: Cases of anotia/microtia that presented in Nagata Microtia and Reconstructive Plastic Surgery Clinic (Saitama, Japan) between 2005 and 2018 were included in the study. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004915DOI Listing
January 2019
1 Read

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

Plast Reconstr Surg 2019 01;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
12 Reads

Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?

Cien Saude Colet 2018 Dec;23(12):4311-4318

Sociedade Brasileira de Pesquisa e Assistência para Reabilitação Craniofacial. Campinas SP Brasil.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder with variable expression in which the ear may or may not be absent or with a malformation. Individuals with TCS suffer social stigma that may affect interaction with their peers. Quality of life instruments obtained through self-perception questionnaires are stigma identification tools and can enable social adjustment of these individuals. Read More

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http://dx.doi.org/10.1590/1413-812320182312.21142016DOI Listing
December 2018

Surgery-First Orthognathic Surgery for Severe Facial Asymmetry Combined With Mandibular Distraction Osteogenesis Using a Three-Dimensional Internal Distractor.

J Craniofac Surg 2019 Jan;30(1):39-46

Department of Plastic, Reconstructive and Aesthetic Surgery, Tokyo Metropolitan Police Hospital.

Severe facial asymmetry in adults with hemifacial microsomia or other types of mandibular hypoplasia is challenging to treat with simultaneous maxillomandibular distraction osteogenesis using an external distractor combined with intermaxillary fixation (IMF). Using an external distractor also produces significant distress for patients for at least 8 weeks. Furthermore, mandibular-driven distraction tends to elongate the midface, with difficulty positioning of the center of the maxilla in the center of the face and horizontalization of the occlusal plane. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004929DOI Listing
January 2019
3 Reads

Discussion: Early Mandibular Distraction in Craniofacial Microsomia and Need for Orthognathic Correction at Skeletal Maturity: A Comparative Long-Term Follow-Up Study.

Plast Reconstr Surg 2018 11;142(5):1294-1298

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.0000000000004954DOI Listing
November 2018
2 Reads

Early Mandibular Distraction in Craniofacial Microsomia and Need for Orthognathic Correction at Skeletal Maturity: A Comparative Long-Term Follow-Up Study.

Plast Reconstr Surg 2018 11;142(5):1285-1293

Philadelphia, Pa. From the Division of Plastic Surgery, Children's Hospital of Philadelphia.

Background: Controversy exists regarding the treatment of mandibular hypoplasia in craniofacial microsomia patients, notably the role of mandibular distraction osteogenesis. The authors compared the need for orthognathic surgery in skeletally mature craniofacial microsomia subjects who either did (study group) or did not (control group) undergo early mandibular distraction osteogenesis.

Methods: A retrospective review was conducted of all craniofacial microsomia patients evaluated between January of 1993 and March of 2017. 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.0000000000004842DOI Listing
November 2018
14 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

Microtia Reconstruction in Hemifacial Microsomia Patients: Three Framework Coverage Techniques.

Plast Reconstr Surg 2018 12;142(6):1558-1570

Seoul, Republic of Korea From the Seoul Center for Developmental Ear Anomalies and the Department of Plastic and Reconstructive Surgery, Korea University Anam Hospital.

Background: Microtia with hemifacial microsomia is difficult to treat because of skin volume deficiency. To provide further information for coverage techniques in microtia reconstruction, the authors have reviewed and analyzed patients who underwent surgery at their center.

Methods: A total 52 patients with microtia with hemifacial microsomia who underwent reconstruction between 2006 and 2016 were involved. Read More

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http://dx.doi.org/10.1097/PRS.0000000000005063DOI Listing
December 2018
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
10 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
28 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

Microtia and Related Facial Anomalies.

Clin Perinatol 2018 12 18;45(4):679-697. Epub 2018 Sep 18.

Children's ENT and Facial Plastic Surgery, Children's Hospitals and Clinics of Minnesota, 2530 Chicago Avenue, Suite 450, Minneapolis, MN 55404, USA.

Infants may be born with external ear deformities or malformations that can present a diagnostic clue to an affiliated syndrome while also presenting the possibility of surgical intervention. Microtia is a malformation of the ear that is associated with other craniofacial or systemic anomalies in 50% of cases. Surgical correction of microtia and associated facial anomalies is complex and must be integrated thoughtfully into the overall care plan for children with complex medical needs. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00955108183139
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http://dx.doi.org/10.1016/j.clp.2018.07.007DOI Listing
December 2018
7 Reads

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
22 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
19 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
13 Reads

Copper Beaten Skull.

J Pediatr 2019 Mar 19;206:297-297.e1. 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
March 2019
4 Reads

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

Cleft Palate Craniofac J 2019 May 21;56(5):674-678. 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
May 2019
27 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

[Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Oct;35(5):683-685

Central Laboratory, Children's Hospital of Jiangxi Province, Nanchang, Jiangxi 330006, China.

Objective: To detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome.

Methods: Clinical data of the patient was collected. The analysis included history taking, clinical examination and genetic testing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.05.014DOI Listing
October 2018
9 Reads

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
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Structural comparison of hemifacial microsomia mandible in different age groups by three-dimensional skeletal unit analysis.

J Craniomaxillofac Surg 2018 Nov 23;46(11):1875-1882. Epub 2018 Aug 23.

Department of Oral and Maxillofacial Surgery (Head: Pf. HJ Kim), Oral Science Research Center, College of Dentistry, Yonsei University, Seoul, Republic of Korea. Electronic address:

Purpose: The goal of this study was to understand the three-dimensional (3D) structural characteristics of hemifacial microsomia (HFM) mandible in terms of skeletal units, especially to locate the underdeveloped skeletal regions for treatment. Another goal was to compare the HFM structure of different age groups to understand growth potential relevant to treatment scheduling.

Materials And Methods: We reconstructed 3D mandibles from computed tomographic images of French and Korean patients with HFM (N = 28; group II) and normal subjects (N = 27; group I). Read More

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http://dx.doi.org/10.1016/j.jcms.2018.08.009DOI Listing
November 2018
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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
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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
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Developmental processes regulate craniofacial variation in disease and evolution.

Genesis 2019 01 1;57(1):e23249. Epub 2018 Oct 1.

Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.

Variation in development mediates phenotypic differences observed in evolution and disease. Although the mechanisms underlying phenotypic variation are still largely unknown, recent research suggests that variation in developmental processes may play a key role. Developmental processes mediate genotype-phenotype relationships and consequently play an important role regulating phenotypes. Read More

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http://dx.doi.org/10.1002/dvg.23249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349473PMC
January 2019

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
24 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
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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
3 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
14 Reads

New oral findings in Hamamy syndrome.

Spec Care Dentist 2018 11 1;38(6):445-446. Epub 2018 Sep 1.

School of Dentistry, The University of Jordan & Hospital, Amman, Jordan.

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http://doi.wiley.com/10.1111/scd.12322
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http://dx.doi.org/10.1111/scd.12322DOI Listing
November 2018
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Feeding difficulties in craniofacial microsomia: A multicenter retrospective analysis of 755 patients.

J Craniomaxillofac Surg 2018 Oct 29;46(10):1777-1782. Epub 2018 Jul 29.

The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, 's Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands; The Craniofacial Unit, Great Ormond Street Hospital, 30 Guilford Street, London, WC1N1EH, United Kingdom; The Craniofacial Centre, Boston Children's Hospital, 300 Longwood Avenue, Hunnewell Building, Boston, MA, 02115, United States. Electronic address:

A retrospective cohort study was initiated to analyse the prevalence, risk factors and treatment modalities of feeding difficulties in patients with craniofacial microsomia. This study included 755 subjects with craniofacial microsomia from three craniofacial centres. Medical charts were reviewed for severity of the deformity, documented feeding difficulties, age at which feeding difficulties first presented and treatment, presence of cleft lip/palate, extracraniofacial anomalies, and obstructive sleep apnoea. Read More

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http://dx.doi.org/10.1016/j.jcms.2018.07.017DOI Listing
October 2018
20 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
23 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
5 Reads