6,205 results match your criteria Crouzon Syndrome


Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.

Cleft Palate Craniofac J 2020 Jul 2:1055665620937499. Epub 2020 Jul 2.

Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies and Bauru Dental School, University of São Paulo, Bauru-SP, Brazil.

Objective: The aim of this study was to compare the dentoskeletal pattern of Treacher Collins syndrome (TCS) and nonsyndromic Pierre Robin sequence (PRS).

Design: Retrospective.

Setting: Single center. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1055665620937499DOI Listing

Hemifacial microsomia managed by distraction osteogenesis: A clinicoradiological report.

J Indian Soc Pedod Prev Dent 2020 Apr-Jun;38(2):200-203

Department of Oral and Maxillofacial Surgery, Sudha Rustagi College of Dental Sciences and Research, Faridabad, Haryana, India.

Hemifacial microsomia (HFM) is a congenital malformation in which there is hypoplasia of hard and soft tissues on one side of the face. It is considered the second most common congenital syndrome of the head-and-neck region. The hypoplasia manifests in all the structures derived from the first and second branchial arches and therefore, growth and development of these structures is affected in this condition. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/JISPPD.JISPPD_291_19DOI Listing

Crouzon Syndrome in a Ten-week-old Infant: A Case Report.

Saudi J Med Med Sci 2020 May-Aug;8(2):146-150. Epub 2020 Apr 17.

Department of Surgery, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India.

Crouzon syndrome is a rare genetic disorder. We report a rare case of Crouzon syndrome in a very young infant with distinct features of craniofacial malformations. A 10-week-old male child presented with features of craniofacial dysostosis with abnormal shape of the skull, proptosis, hypertelorism, curved nose and frontal bossing. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/sjmms.sjmms_38_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305672PMC

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.

Mol Genet Genomic Med 2020 Jun 15:e1313. Epub 2020 Jun 15.

Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

Background: Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with TCS only depending on the ultrasound screening. Genetic tests can contribute to the accurate diagnosis for those prenatal cases. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1313DOI Listing

Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.

Authors:
Jue Zhao Liwei Yang

J Clin Lab Anal 2020 Jun 14:e23426. Epub 2020 Jun 14.

Department of Obstetrics, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.

Background: Nager syndrome is a rare genetic syndrome characterized by craniofacial and preaxial limb anomalies. Haploinsufficiency of the SF3B4 gene has been identified as a significant reason for Nager syndrome. Treacher Collins syndrome (TCS) has similar facial features; however, the TCOF1, POLR1D, and POLR1C genes have been reported as the critical disease-causing genes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcla.23426DOI Listing

Prenatal Diagnosis of Crouzon Syndrome by 2D Ultrasound.

J Turk Ger Gynecol Assoc 2020 Jun 10. Epub 2020 Jun 10.

Department of Obstetrics and Gynecology, AIIMS, New Delhi.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4274/jtgga.galenos.2020.2019.0184DOI Listing

A novel therapeutic hypothesis for craniosynostosis syndromes: Clover to clever.

Med Hypotheses 2020 May 23;144:109837. Epub 2020 May 23.

Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, School of Optometry, Shenzhen University, Shenzhen, China; Xiamen Eye Center, Xiamen University, Xiamen, China. Electronic address:

Cloverleaf skull is a complex skull deformity named after its cloverleaf shape. The primary pathogenic factor is craniosynostosis. Craniosynostosis could result in limited development of skull, brain, maxillofacial and nervous system, thus arising a series of complex syndromes, including Crouzon, Apert, Pfeiffer, Saethre-Chotzen and Muenke syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mehy.2020.109837DOI Listing

Spliceosomopathies: Diseases and mechanisms.

Dev Dyn 2020 Jun 7. Epub 2020 Jun 7.

Department of Molecular Pathobiology, New York University College of Dentistry, New York, New York, USA.

The spliceosome is a complex of RNA and proteins that function together to identify intron-exon junctions in precursor messenger-RNAs, splice out the introns, and join the flanking exons. Mutations in any one of the genes encoding the proteins that make up the spliceosome may result in diseases known as spliceosomopathies. While the spliceosome is active in all cell types, with the majority of the proteins presumably expressed ubiquitously, spliceosomopathies tend to be tissue-specific as a result of germ line or somatic mutations, with phenotypes affecting primarily the retina in retinitis pigmentosa, hematopoietic lineages in myelodysplastic syndromes, or the craniofacial skeleton in mandibulofacial dysostosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvdy.214DOI Listing

Long Term Speech Outcomes Following Midface Advancement in Syndromic Craniosynostosis.

J Craniofac Surg 2020 Jun 2. Epub 2020 Jun 2.

Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA.

Midface advancement by distraction osteogenesis (DO) is commonly performed in patients with craniosynostosis for indications including midface hypoplasia, exorbitism, obstructive sleep apnea, class III malocclusion, and overall aesthetic facial deficiency. There is evidence to suggest that maxillary LeFort I advancement increases the risk of velopharyngeal dysfunction in the cleft palate population, yet few studies have investigated changes in speech following LeFort III or monobloc midface advancement in patients with syndromic craniosynostosis. The purpose of this study was to examine the effect of midface DO on speech as indicated by the Pittsburgh Weighted Speech Score in patients with Apert, Crouzon, and Pfeiffer Syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006581DOI Listing

Viral delivery of tissue nonspecific alkaline phosphatase diminishes craniosynostosis in one of two FGFR2C342Y/+ mouse models of Crouzon syndrome.

PLoS One 2020 29;15(5):e0234073. Epub 2020 May 29.

Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan, Ann Arbor, Michigan, United States of America.

Craniosynostosis is the premature fusion of cranial bones. The goal of this study was to determine if delivery of recombinant tissue nonspecific alkaline phosphatase (TNAP) could prevent or diminish the severity of craniosynostosis in a C57BL/6 FGFR2C342Y/+ model of neonatal onset craniosynostosis or a BALB/c FGFR2C342Y/+ model of postnatal onset craniosynostosis. Mice were injected with a lentivirus encoding a mineral targeted form of TNAP immediately after birth. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0234073PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7259715PMC

Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.

Plast Reconstr Surg 2020 Jun;145(6):1067e-1072e

Los Angeles, Calif. From the Division of Plastic and Reconstructive Surgery, Keck School of Medicine, University of Southern California; and the Division of Plastic and Maxillofacial Surgery, Children's Hospital of Los Angeles.

Background: Midface hypoplasia dramatically affects the normative facial cascade. Simultaneous Le Fort III and Le Fort I procedures (Le Fort III/I) provide a powerful tool for achieving significant midface advancement. This study presents the authors' approach for addressing midface hypoplasia in the setting of class III malocclusion using Le Fort III/I advancement. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000006816DOI Listing

Successful management of anesthesia complications in a child with Crouzon syndrome.

Anaesthesist 2020 Jun 6;69(6):432-435. Epub 2020 May 6.

Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, China.

Crouzon syndrome (CS) is a rare autosomal dominant inherited disorder caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature fusion of the coronal and sagittal sutures of the skull, resulting in clinical manifestations of midfacial hypoplasia, shallow orbit, maxillary dysplasia, and occasional upper respiratory obstruction. This article presents the case of a child aged 2 years and 7 months with CS scheduled for bilateral tonsillectomy and adenoidectomy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00101-020-00778-7DOI Listing

Racial disparity of Crouzon syndrome in maxilla and mandible.

Int J Oral Maxillofac Surg 2020 Apr 30. Epub 2020 Apr 30.

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

The racial disparity of facial features in craniosynostosis patients is not fully understood. The aim of this study was to explore the difference in maxillary and mandibular morphology and spatial position in Asian and Caucasian Crouzon syndrome patients. Ninety-one computed tomography scans were included (12 Asian Crouzon syndrome patients, 22 Asian controls; 16 Caucasian Crouzon syndrome patients, 41 Caucasian controls) and measured using Materialise software. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijom.2020.04.005DOI Listing

Prevention methods for Treacher Collins syndrome: A systematic review.

Int J Pediatr Otorhinolaryngol 2020 Jul 21;134:110062. Epub 2020 Apr 21.

The Seventh Department of Plastic Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Objectives: Treacher Collins syndrome (TCS) is a severe congenital mandibulofacial dysostosis that occurs one in every 50,000 births. The main clinical treatment of this rare disorder is reconstruction surgery. However, the high invasion, low security and long period of surgical intervention make it essential to explore prevention methods to decrease morbidity. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2020.110062DOI Listing

Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?

Eur J Cardiothorac Surg 2020 May 1. Epub 2020 May 1.

Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, Netherlands.

Gorlin-Chaudhry-Moss syndrome (GCMS) is a rare disorder consisting of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, and ocular and dental anomalies. Recently, GCMS has been reclassified together with Fontaine syndrome as Fontaine progeroid syndrome (FPS), after a common genetic basis was found. It was previously thought that GCMS/FPS was not associated with aortopathy, but in recent years 3 patients with aortic disease have been described. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ejcts/ezaa108DOI Listing

Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature.

Case Rep Dent 2020 20;2020:6248971. Epub 2020 Jan 20.

Craniomaxillofacial Research Center, Oral and Maxillofacial Surgery Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Crouzon syndrome is the most common type of craniofacial dysostosis anomaly which presents a great challenge for clinicians since birth. Multiple synostoses in the sutures of the cranial base in this syndrome result in the hypoplasia of the midface, shallow orbits, a short nasal dorsum, maxillary hypoplasia, and, in severe cases, obstruction of the upper airways. Apart from esthetic and functional problems, these patients suffer from various psychological problems which mandate correction of midface deformities at younger ages. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2020/6248971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178541PMC
January 2020

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.

Hum Mutat 2020 Apr 25. Epub 2020 Apr 25.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions encompassing EFTUD2, intragenic deletions and single nucleotide truncating or missense variants. These variants are predicted to result in haploinsufficiency by loss-of-function of the variant allele. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.24027DOI Listing

Commentary: Anomalous extraocular muscles in Crouzon syndrome with V-pattern exotropia.

Authors:
Anirudh Singh

Indian J Ophthalmol 2020 May;68(5):926-927

Command Hospital, Bangalore, Karnataka, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_1993_19DOI Listing

Anomalous extraocular muscles in Crouzon syndrome with V-pattern exotropia.

Indian J Ophthalmol 2020 May;68(5):924-926

Department of Ophthalmology, Ajou University School of Medicine, Suwon, South Korea.

Strabismus associated with Crouzon syndrome is common and often complex. V-pattern strabismus is most commonly reported in this condition and is mainly thought to be due to an excyclorotation of the orbits and rectus muscle pulleys. We report two cases of children with Crouzon syndrome and V-pattern exotropia who had rectus muscle heterotopy on orbital imaging and were also found intraoperatively to have anomalous extraocular muscles. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_1121_19DOI Listing

Timing of Ossification of the Anterior Skull Base in Syndromic Synostosis.

J Craniofac Surg 2020 Jul-Aug;31(5):1256-1260

Craniofacial Center, Seattle Children's Hospital.

The anterior skull base undergoes a progressive ossification after birth. This has implications on the epidural dissection of early trans-craniofacial osteotomy procedures such as monobloc advancements. Our purpose was to determine the rate of ossification in syndromic synostosis patients relative to a normal cohort to establish when maturation of the anterior skull base is complete. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006431DOI Listing

Correlation of Intracranial Volume With Head Surface Volume in Patients With Multisutural Craniosynostosis.

J Craniofac Surg 2020 Jul-Aug;31(5):1445-1448

Craniofacial Unit, Great Ormond Street Hospital for Children, London, United Kingdom.

Intracranial volume (ICV) is an important parameter for monitoring patients with multisutural craniosynostosis. Intracranial volume measurements are routinely derived from computed tomography (CT) head scans, which involves ionizing radiation. Estimation of ICV from head surface volumes could prove useful as 3D surface scanners could be used to indirectly acquire ICV information, using a non-invasive, non-ionizing method. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006372DOI Listing

An Infant with Crouzon Syndrome Presenting with Reversible Chronic Airway Obstruction.

Anesthesiology 2020 Jun;132(6):1555

From the Anesthesiology Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates (A.J.) Max Super Speciality Hospital, Saket, New Delhi, India (P.K.) Department of Anaesthesia and Intensive Care, Postgraduate Institute of Medical Education and Research, Chandigarh, India (H.B.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/ALN.0000000000003291DOI Listing

[Reply to a Comment by Prof. Henrique Carmona da Mota About the Article Published in Acta Med Port 2019 Sep;32(9):565-567].

Authors:
José Ponte

Acta Med Port 2020 Apr 1;33(4):291. Epub 2020 Apr 1.

Professor Emérito. Universidade do Algarve. Faro. Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.20344/amp.13518DOI Listing

Long-Term Follow-Up on Bone Stability and Complication Rate after Monobloc Advancement in Syndromic Craniosynostosis.

Plast Reconstr Surg 2020 04;145(4):1025-1034

Campinas, São Paulo, Brazil From the Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas; and the Department of Neurology, University of Campinas.

Background: Monobloc advancement is a complex procedure used to treat patients with syndromic craniosynostosis. Studies directly addressing the long-term stability of monobloc advancement with distraction osteogenesis are underreported in the literature. The objectives of this study were to assess 5-year midface bone stability following monobloc advancement performed on patients with syndromic craniosynostosis, identify risk factors for relapse, and present strategies for prevention and management of complications. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000006646DOI Listing

Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).

J Craniofac Surg 2020 Jun;31(4):e356-e359

Pediatric and Community Dentistry Sector, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.

Robin sequence with cleft mandible and limb anomalies, known as Richieri-Costa-Pereira syndrome (RCPS), is an autosomal recessive acrofacial dysostosis characterized by mandibular cleft and other craniofacial anomalies and respiratory complications. The aim of this cross-sectional study was to describe the hyoid and head posture of 9 individuals with RCPS using cephalometric measurements and provide a discussion about its implications in obstructive sleep apnea syndrome (OSAS). The study was conducted on lateral cephalograms of patients with RCPS and 9 selected age-matched controls in tertiary cleft center in Brazil. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006338DOI Listing

Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report).

J Radiol Case Rep 2019 Nov 30;13(11):1-9. Epub 2019 Nov 30.

Department of Human Morphology, Belarusian State Medical University, Minsk, Belarus.

The article presents a case report and literature review of hemifacial microsomia with cervical vertebral anomalies. Unilateral hypoplasia of the mandible, congenital anomalies of the external ear and cervical spine pathology identified in this case are common major signs/symptoms of Goldenhar (Goldenhar-Gorlin) syndrome. Complete fusion of bodies and spinous processes of the second and third cervical vertebrae as well as atlantooccipital assimilation and anterior cleft of the atlas were also found. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3941/jrcr.v13i11.3687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060003PMC
November 2019

Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.

Front Genet 2020 25;11:104. Epub 2020 Feb 25.

University Hospital Onofre Lopes, Urologic Unit, Federal University of Rio Grande do Norte, Natal, Brazil.

Background: Apert, Pfeiffer, and Crouzon syndromes are autosomal dominant diseases characterized by craniosynostosis. They are paternal age effect disorders. The association between paternal age and Beare-Stevenson syndrome (BSS), a very rare and severe craniosynostosis, is uncertain. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2020.00104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052335PMC
February 2020

Craniofacial, oral, and cervical morphological characteristics in Japanese patients with Apert syndrome or Crouzon syndrome.

Eur J Orthod 2020 Mar 7. Epub 2020 Mar 7.

Department of Maxillofacial Orthognathics, Division of Maxillofacial and Neck Reconstruction, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Background And Objectives: Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene are responsible for both Apert syndrome (AS) and Crouzon syndrome (CS). These diseases share phenotypic characteristics, including midfacial hypoplasia and premature fusion of the calvarial suture(s). Given the extensive range of craniofacial growth and developmental abnormalities, management of these patients requires a multidisciplinary approach. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ejo/cjaa015DOI Listing

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

Am J Med Genet A 2020 05 5;182(5):1104-1116. Epub 2020 Mar 5.

Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, GNAI3, PCLB4, and EDN1 cause Mandibulofacial Dysostosis with Alopecia (MFDA), Auriculocondylar syndrome (ARCND) 1, 2, and 3, respectively. However, cardiovascular development is normal in MFDA and ARCND individuals, unlike Ednra knockout mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202054PMC

An Overview of Craniosynostosis Craniofacial Syndromes for Combined Orthodontic and Surgical Management.

Oral Maxillofac Surg Clin North Am 2020 May 17;32(2):233-247. Epub 2020 Feb 17.

Section of Oral and Maxillofacial Surgery, Department of Plastic & Oral Surgery, Harvard Medical School, 300 Longwood Avenue, Hunnewell, 1st Floor, Boston, MA 02115, USA.

This article provides an overview of epidemiology, genetics, and common orofacial features of those with craniosynostosis. Patients with craniosynostosis require several surgical procedures along with continuum of care. The earliest surgical interventions are done during the first few years of life to relieve the fused sutures. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.coms.2020.01.004DOI Listing

Prenatal diagnosis of 6pter-p24 deletion syndrome in a fetus from a Han Chinese family: A case report.

Medicine (Baltimore) 2020 Feb;99(8):e19246

Center for Reproductive Medicine and Center for Prenatal Diagnosis First Hospital, Jilin University.

Introduction: Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a rare genetic disorder characterized by deletion of the distal part of 6p. Human 6p deletion syndromes result in a variety of congential malformations.

Patient Concerns: The fetus was the fourth child born to healthy non-consanguineous parents with no relevant family history. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000019246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034732PMC
February 2020

An early description of Crouzon syndrome in a manuscript written in 1828 by Franz Joseph Gall.

J Hist Neurosci 2020 Feb 19:1-12. Epub 2020 Feb 19.

Department of Psychological and Brain Sciences and Program in History of Medicine, Washington University, St. Louis, Missouri, USA.

Just a few weeks before his death in 1828, Franz Joseph Gall, the father of what others would later call phrenology, wrote a letter to an unknown person, presumably a fellow physician. The manuscript describes the case of girl, 19 months of age. The girl's skull showed marked deformations consistent with what would be called craniosynostosis or Crouzon('s) syndrome by physicians today. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/0964704X.2020.1723377DOI Listing
February 2020

Classification of Subtypes of Crouzon Syndrome Based on the Type of Vault Suture Synostosis.

J Craniofac Surg 2020 May/Jun;31(3):678-684

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

Background: Patients with Crouzon syndrome develop various types of anatomic deformities due to different forms of craniosynostosis, yet they have similar craniofacial characteristics. However, exact homology is not evident. Different pathology then may be best treated by different forms of surgical technique. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006173DOI Listing
February 2020

A dominant vimentin variant causes a rare syndrome with premature aging.

Eur J Hum Genet 2020 Feb 17. Epub 2020 Feb 17.

Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France.

Progeroid syndromes are a group of rare genetic disorders, which mimic natural aging. Unraveling the molecular defects in such conditions could impact our understanding of age-related syndromes such as Alzheimer's or cardiovascular diseases. Here we report a de novo heterozygous missense variant in the intermediate filament vimentin (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-020-0583-2DOI Listing
February 2020

Intracranial hypertension and cortical thickness in syndromic craniosynostosis.

Dev Med Child Neurol 2020 Jul 14;62(7):799-805. Epub 2020 Feb 14.

Department of Plastic and Reconstructive Surgery, Erasmus Medical Center, Rotterdam, the Netherlands.

Aim: To evaluate the impact of risk factors for intracranial hypertension (ICH) on cerebral cortex thickness in syndromic craniosynostosis.

Method: ICH risk factors including papilloedema, hydrocephalus, obstructive sleep apnea (OSA), cerebellar tonsillar position, occipitofrontal circumference (OFC) curve deflection, age, and sex were collected from the records of patients with syndromic craniosynostosis (Apert, Crouzon, Pfeiffer, Muenke, Saethre-Chotzen syndromes) and imaging. Magnetic resonance images were analysed and exported for statistical analysis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.14487DOI Listing

Cranial Fossa Development in Differing Subtypes of Crouzon Syndrome.

J Craniofac Surg 2020 May/Jun;31(3):673-677

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

Background: Based on an established classification system of Crouzon syndrome subtypes, detailed regional morphology and volume analysis may be useful, to clarify Crouzon cranial structure characteristics, and the interaction between suture fusion and gene regulated overall growth of the calvarium and basicranium.

Methods: CT scans of 36 unoperated Crouzon syndrome patients and 56 controls were included and subgrouped as: type I. Bilateral coronal synostosis; type II. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006181DOI Listing
February 2020

Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review.

Indian J Radiol Imaging 2019 Oct-Dec;29(4):442-447. Epub 2019 Dec 31.

Department of Paediatric Medicine, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

Crouzon syndrome is the most common form of craniofacial dysostosis, characterised by a classical triad of abnormal skull shape, abnormal facies, and exophthalmos. The clinically overt dental abnormalities in these patients, distracts clinicians from the developmental neurological defects and therefore this entity remains relatively under - highlighted in radiology literature. We report and highlight the role of imaging in diagnosis of Crouzon syndrome in two patients, and discuss the relevant differential diagnosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijri.IJRI_353_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958874PMC
December 2019

Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2.

PLoS One 2020 14;15(1):e0220348. Epub 2020 Jan 14.

Cancer Center Amsterdam, Department of Clinical Genetics, section Oncogenetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.

In a process linked to DNA replication, duplicated chromosomes are entrapped in large, circular cohesin complexes and functional sister chromatid cohesion (SCC) is established by acetylation of the SMC3 cohesin subunit. Roberts Syndrome (RBS) and Warsaw Breakage Syndrome (WABS) are rare human developmental syndromes that are characterized by defective SCC. RBS is caused by mutations in the SMC3 acetyltransferase ESCO2, whereas mutations in the DNA helicase DDX11 lead to WABS. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0220348PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959578PMC

Treatment of the Patient With Crouzon Syndrome With Orthognathic Surgery.

J Craniofac Surg 2020 May/Jun;31(3):806-808

Oral and Maxillofacial Surgery Department, Dentistry Faculty of Inonu University, Battalgazi, Malatya, Turkey.

Crouzon syndrome is a genetic disease that is transferred by autosomal dominant inheritance. Patients with this syndrome have craniosynostosis, hypertelorism, orbital proptosis, mid-face hypoplasia, mandibular prognathism, and concave facial profile. A number of surgical treatments are used to improve facial contours, and to correct dental and maxillary relationships. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006177DOI Listing
January 2020

Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse.

Dev Dyn 2020 May 14;249(5):622-635. Epub 2020 Jan 14.

Section of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Background: Splicing factor 3B subunit 4 (SF3B4) is a causative gene of an acrofacial dysostosis, Nager syndrome. Although in vitro analyses of SF3B4 have proposed multiple noncanonical functions unrelated to splicing, less information is available based on in vivo studies using model animals.

Results: We performed expression and functional analyses of Sf3b4 in mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvdy.148DOI Listing

Endoscopic orbital decompression for proptosis in non-thyroid eye disease.

Oral Maxillofac Surg 2020 Mar 19;24(1):85-91. Epub 2019 Dec 19.

Department of Ophthalmology, Sussex Eye Hospital, Eastern Road, Brighton, BN2 5BF, UK.

Purpose: Orbital decompression is an established surgical treatment option for a range of orbital conditions. We report the outcomes of endonasal decompression to recess the globe for conditions and pathologies other than thyroid eye disease.

Methods: This was a retrospective case series of patients who underwent endoscopic orbital decompression for proptosis secondary to non-thyroid eye disease orbital pathologies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10006-019-00826-6DOI Listing

Catel-Manzke syndrome without Manzke dysostosis.

Am J Med Genet A 2020 03 12;182(3):437-440. Epub 2019 Dec 12.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington and Seattle Children's Hospital, Seattle, Washington.

Catel-Manzke syndrome is characterized by hand anomalies, Robin sequence, cardiac defects, joint hyperextensibility, and characteristic facial features. Approximately 40 patients with Catel-Manzke have been reported, all with the pathognomonic bilateral or unilateral hyperphalangy caused by an accessory bone between the second metacarpal and proximal phalanx known as Manzke dysostosis. Here we present the first case of molecularly confirmed Catel-Manzke syndrome with Robin sequence but without Manzke dysostosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61436DOI Listing

[Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome].

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi 2019 Dec;33(12):1578-1583

Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100144,

Objective: To summarize the progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome (TCS).

Methods: The domestic and abroad literature about the diagnosis and treatment of upper respiratory obstruction in patients with TCS was extensively reviewed and analyzed.

Results: TCS is an autosomal-dominant craniofacial developmental syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7507/1002-1892.201903041DOI Listing
December 2019

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.

Hum Genomics 2019 12 5;13(1):63. Epub 2019 Dec 5.

Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, 201102, China.

Background: Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature. Heterozygous loss of function variants of EFTUD2 was previously reported in MFDM; however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear.

Results: We identified a novel frameshift variant of EFTUD2 (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-019-0238-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894506PMC
December 2019

Hallermann-Streiff syndrome with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography findings: A case report.

Medicine (Baltimore) 2019 Dec;98(49):e18272

School of Information Science and Engineering, Yunnan University, Kunming, China.

Rationale: Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature.

Patient Concerns: A 24-year-old Chinese male patient presented to the ophthalmologist because of his sore eye and blurred vision.

Diagnoses: The final diagnosis of presented case is HSS having the main features of the syndrome, however, associated with uncommon ocular features, ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT)changes, including aphakia, glaucoma, long eye axes, cilliary abnormalities, and chorioretinal atrophy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000018272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919421PMC
December 2019

Three-Dimensional Upper Airway Assessment in Treacher Collins Syndrome.

Cleft Palate Craniofac J 2020 03 5;57(3):371-377. Epub 2019 Dec 5.

Laboratory of Physiology, Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Brazil.

Objectives: The purpose of this investigation was to assess the and the ogy of individuals with Treacher Collins syndrome (TCS) when compared to vertical skeletal class II individuals. It is our hypothesis that the upper airways of individuals with TCS are reduced in view of the skeletal pattern and the maxillomandibular dysmorphologies.

Materials And Methods: Cone-beam computed tomography scans of 26 individuals had the pharyngeal volume (V) and minimal cross-sectional area (mCSA) evaluated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1055665619885555DOI Listing

Atlantoaxial Rotatory Subluxation: A Rare Complication of Craniofacial Surgery.

J Craniofac Surg 2020 Jan/Feb;31(1):166-168

Johns Hopkins School of Medicine, MD.

Introduction: Neck pain is common in the post-operative period after craniofacial procedures. If patients present with neck pain and torticollis, it could be a manifestation of atlantoaxial rotatory subluxlation (AARS), which describes a rare condition in which there is lateral displacement of C1 relative to C2. When this occurs in the post-operative patient, it is termed Grisel syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006085DOI Listing

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

Plast Reconstr Surg 2019 12;144(6):1118e-1119e

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000006230DOI Listing
December 2019

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

Plast Reconstr Surg 2019 12;144(6):1117e-1118e

Department of Sixteen, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000006229DOI Listing
December 2019

Sometimes the Power of Science is Driven by the Ratio of Love.

J Craniofac Surg 2019 Sep;30(6):e573-e574

Paediatric Intensive Care Unit Erasmus University Medical Centre - Sophia Children's Hospital, Rotterdam.

An infant with Crouzon syndrome was in need of cranial surgery. The optimum surgical correction was not possible, because at that time she was supported with continuous positive airway pressure attached to her occiput. However, the parents wanted the best craniofacial option and her father designed a respiratory support device with attachment to the forehead. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000005588DOI Listing
September 2019