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    Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome.
    Arch Oral Biol 2017 Oct 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) C342Y/+ 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

    A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
    Am J Hum Genet 2017 Dec 30;101(6):995-1005. Epub 2017 Nov 30.
    School of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia; Healthy Mothers and Babies, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:
    A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C>T [p. Read More

    Three dimensional imaging of soft and hard facial tissues in patients with craniofacial syndromes: a systematic review of methodological quality.
    Dentomaxillofac Radiol 2017 Nov 23:20170154. Epub 2017 Nov 23.
    Department of Oral Health Sciences - Orthodontics, Katholieke Universiteit Leuven, Leuven, Belgium.
    Objectives: To systematically review the xmethodological quality of three-dimensional (3D) 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 3D imaging of facial soft and/or hard tissues. Read More

    Congenital Abnormalities of the Temporomandibular Joint.
    Oral Maxillofac Surg Clin North Am 2018 Feb;30(1):71-82
    Louisiana State University Health Science Center, 1501 Kings Highway, Shreveport, LA 71103, USA. Electronic address:
    Congenital deformities of the temporomandibular joint (TMJ) complex can present as a heterogeneous continuum of growth disturbances of the mandibular condyle, articular eminence, and temporal bone. This article describes several syndromes with congenital condylar deformity, including mandibulofacial dysostosis (Treacher Collins syndrome), hemifacial microsomia, oculoauriculovertebral syndrome, oculomandibulodyscephaly (Hallermann-Streiff syndrome), and Nager syndrome. Variations in the extent of TMJ deficiency seen in each individual case influence the timing and techniques of TMJ reconstruction. Read More

    Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management.
    Craniomaxillofac Trauma Reconstr 2017 Dec 2;10(4):286-291. Epub 2016 Sep 2.
    Division of Plastic Surgery, Michael E. Debakey Department of Surgery, Baylor College of Medicine, Houston, Texas.
    A case report of monozygotic (MZ) twins with Crouzon syndrome was previously published to highlight variables in clinical presentation. The postnatal and epigenetic causes for this variation are not well understood. An 8-year follow-up discusses their pertinent clinic course with consideration of genetic and nongenetic variables. Read More

    Familial acanthosis nigricans with p.K650T FGFR3 mutation.
    J Dermatol 2017 Oct 25. Epub 2017 Oct 25.
    Department of Dermatology, Hamamatsu University School of Medicine.
    Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndrome, achondroplasia and hypochondroplasia (HCH). These orthopedic disorders are known to have genetic changes in FGFR3. Read More

    Osteogenesis of Crouzon-Mutated Cells in a Murine Model.
    J Craniofac Surg 2017 Oct 23. Epub 2017 Oct 23.
    Yale School of Medicine, New Haven, CT.
    Crouzon syndrome is an autosomal-dominant congenital disease due to a mutation in the fibroblast growth factor receptor 2 protein. The purpose of this study is to evaluate wound-healing potential of Crouzon osteoblasts and adipose-derived stem cells (ADSCs) in a murine model. Parietal skull defects were created in Crouzon and mature wild-type (WT) CD-1 mice. Read More

    Corrected Cephalometric Analysis to Determine the Distance and Vector of Distraction Osteogenesis for Syndromic Craniosynostosis.
    Plast Reconstr Surg Glob Open 2017 Sep 6;5(9):e1482. Epub 2017 Sep 6.
    Department of Plastic and Reconstructive Surgery, Kanagawa Children's Medical Center, Yokohama, Japan; Fukawa Orthodontic Office, Kamakura, Japan; Hirakawa Orthodontic Clinic, Yokohama, Japan; and Department of Plastic and Reconstructive Surgery, Yokohama City University Hospital, Yokohama, Japan.
    Background: The purpose of this study was to confirm the utility of a corrected cephalometric analysis to facilitate the planning of distraction osteogenesis with Le Fort III osteotomy for syndromic craniosynostosis.

    Methods: This prospective study involved 4 male and 2 female patients (mean patient age, 8 years 9 months; age range, 4 years 6 months to 13 years 2 months) with Crouzon syndrome who were treated with Le Fort III maxillary distraction using our previously described system of analysis of a corrected cephalogram and who underwent clinical follow-up. Lateral cephalograms were obtained immediately after device removal. Read More

    "Anterior skull base and pericranial flap ossification after frontofacial monobloc advancement".
    Plast Reconstr Surg 2017 Oct 12. Epub 2017 Oct 12.
    1. Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Necker - Enfants Malades, Service de chirurgie maxillofaciale et plastique ; Université Paris Descartes, & Centre de références des malformations de la face et de la cavité buccale; Paris, France 2. Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Necker - Enfants Malades, Unité de chirurgie crâniofaciale, Service de neurochirurgie ; Université Paris Descartes & Centre de référence des malformations crânio-faciales; Paris, France 3. INSERM U1132 & Université Paris-Diderot, Paris, France 4. Clinique Marcel Sembat (Ramsay - Générale de Santé, Boulogne-Billancourt, France).
    Background: Frontofacial monobloc advancement (FFMBA) creates a communication between the anterior cranial fossa and nasal cavities. To tackle this issue, trans-orbital pericranial pedicled flaps (PF) are routinely performed in our center. This study aimed to assess the post-operative ossification of the anterior skull base and PF following FFMBA, and to identify factors influencing this ossification. Read More

    Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome.
    World Neurosurg 2017 Oct 10. Epub 2017 Oct 10.
    Unité de Chirurgie Craniofaciale, Service de Neurochirurgie Pédiatrique, Centre de Référence National des Dysostoses Crâniofaciales, Hôpital Necker-Enfants Malades, APHP, Paris, France; Service de Neurochirurgie Pédiatrique, Hôpital Femme Mère Enfant, Lyon, France; Université Claude Bernard, Lyon, France.
    Background: The age of closure of skull base synchondroses has never been analyzed in a homogenous population of children with Crouzon syndrome.

    Methods: A retrospective case-control study was performed on 30 Crouzon children (17 male, 13 female) aged 1 month to 12.48 years with Fibroblast Growth Factor Receptor type 2 mutation. Read More

    Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
    Radiographics 2017 Oct;37(6):1813-1830
    From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (K.M.S.); Department of Radiology, University of Texas Health Science Center San Antonio, San Antonio, Tex (A.K.S.); and Department of Radiology, University of Iowa College of Medicine, Iowa City, Iowa (S.C.K.).
    Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Read More

    Growth curves for intracranial volume in normal Asian children fortify management of craniosynostosis.
    J Craniomaxillofac Surg 2017 Nov 21;45(11):1842-1845. Epub 2017 Sep 21.
    Department of Plastic Surgery (Head: Prof. K. Yoshimura), Jichi Medical University, 3311-1, Yakushiji, Shimotsuke, 329-0498, Tochigi, Japan. Electronic address:
    Background: Although the charting of normal intracranial volume (ICV) is fundamental for managing craniosynostosis, Asian norms in this regard are unknown. The purpose of this study was to establish a growth curve for ICVs in a large series of normal Asian children, providing reference values to guide corrective surgery.

    Methods: A total of 124 normal children (male, 63; female, 61) and 41 children diagnosed with craniosynostoses were analyzed. Read More

    Complete Resolution of Papilledema in Syndromic Craniosynostosis with Posterior Cranial Vault Distraction.
    J Pediatr Neurosci 2017 Apr-Jun;12(2):199-202
    Department of Neurosurgery/Pediatric Neurosurgery, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
    We report a case of surgical management of Crouzon syndrome with multisuture craniosynostosis presenting with increased intracranial pressure (ICP) manifesting with chronic papilledema without ventriculomegaly. A 12-month-old boy had complete resolution of papilledema after posterior cranial vault distraction followed by staged fronto-orbital advancement. Expansion of the cranial vault with posterior distraction osteogenesis posed an elegant treatment, obviating ventriculoperitoneal shunt placement for cerebrospinal fluid (CSF) diversion. Read More

    Outcome Predictors in Pediatric Head Trauma: A Study of Clinicoradiological Factors.
    J Pediatr Neurosci 2017 Apr-Jun;12(2):149-153
    Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.
    Introduction: Traumatic injuries are the leading cause of death and a major cause of disability among children. About 70%-80% of the accidental deaths in pediatric age group result directly from central nervous system lesions.

    Methods: The purpose of our study was to study all the patients of ≤18 years of age with head or spinal injury admitted in neurointensive care unit at our center, an apex trauma center in a developing country, between June 2009 and September 2011. Read More

    FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
    Mol Med Rep 2017 Nov 29;16(5):5841-5846. Epub 2017 Aug 29.
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑Sen University, Guangzhou, Guangdong 510060, P.R. China.
    The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. A total of two Chinese patients diagnosed with Crouzon syndrome underwent complete examinations, including best‑corrected visual acuity, slit‑lamp, examination, fundus examination, optical coherence tomography and computed tomography of the skull. Genomic DNA was extracted from peripheral blood samples collected from the patients, as well as their family members and 200 unrelated control subjects from the same population. Read More

    Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
    Cytogenet Genome Res 2017 13;152(3):132-136. Epub 2017 Sep 13.
    North West Thames Regional Genetics Service, London, UK.
    Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. Read More

    Maxillary sinuses and midface in patients with cleidocranial dysostosis.
    Ann Anat 2018 Jan 6;215:78-82. Epub 2017 Sep 6.
    Department of Oral Rehabilitation, Division of Prosthodontics, Poznań University of Medical Sciences, Poznan, Poland.
    The cleidocranial dysplasia is general skeletal disorder with an autosomal dominant inheritance. It is manifested by many craniofacial abnormalities, of which the maxillary hypoplasia is the most evident. The aim of the study was to use CBCT to evaluate the volume of the maxillary sinuses and the dimensions of maxillae in patients with CCD and compare them with healthy individuals. Read More

    Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.
    Plast Reconstr Surg 2017 Sep;140(3):571-580
    Seattle, Wash.; and Boston, Mass. From the Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Washington; the Centers for Child Health, Behavior and Development, Clinical and Translational Research, and Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute; the Craniofacial Center, Seattle Children's Hospital; and the Department of Epidemiology, Boston University School of Public Health.
    Background: The authors compared the IQ and academic achievement of adolescents with craniofacial microsomia (cases) and unaffected children (controls). Among cases, the authors analyzed cognitive functioning by facial phenotype.

    Methods: The authors administered standardized tests of intelligence, reading, spelling, writing, and mathematics to 142 cases and 316 controls recruited from 26 cities across the United States and Canada. Read More

    Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome.
    Plast Reconstr Surg 2017 Dec;140(6):1240-1249
    New York, N.Y.; Isparta and Antalya, Turkey From the Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center; the Department of Orthodontics, Süeyman Demirel University Faculty of Dentistry; and Department of Orthodontics, Akdeniz University Faculty of Dentistry.
    Background: The aim of this study was to identify cephalometric measurements associated with clinical severity in patients with Treacher Collins syndrome.

    Methods: A retrospective single-institution review of patients with Treacher Collins syndrome was conducted. Preoperative cephalograms and computed tomographic scans (n = 30) were evaluated. Read More

    Five-Year Follow-Up of Midface Distraction in Growing Children with Syndromic Craniosynostosis.
    Plast Reconstr Surg 2017 Dec;140(6):794e-803e
    New York, N.Y. From the Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center.
    Background: Maxillary position in patients with syndromic craniosynostosis after midface distraction has been shown to be stable 1 year postoperatively. The purpose of this study is to assess midfacial position in the growing child with craniosynostosis 5 years after Le Fort III advancement with a rigid external device.

    Methods: Seventeen consecutive patients were identified to have the diagnosis of syndromic craniosynostosis and had undergone underwent midface advancement. Read More

    Increased microRNA-93-5p inhibits osteogenic differentiation by targeting bone morphogenetic protein-2.
    PLoS One 2017 10;12(8):e0182678. Epub 2017 Aug 10.
    Medical Centre of Hip, Luoyang Orthopaedic-Traumatological Hospital (Orthopaedic Hospital of Henan Province), Luoyang, China.
    Background And Purpose: Trauma-induced osteonecrosis of the femoral head (TIONFH) is a major complication of femoral neck fractures. Degeneration and necrosis of subchondral bone can cause collapse, which results in hip joint dysfunction in patients. The destruction of bone metabolism homeostasis is an important factor for osteonecrosis. Read More

    Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.
    Front Hum Neurosci 2017 25;11:369. Epub 2017 Jul 25.
    Department of Anthropology, Pennsylvania State UniversityUniversity Park, PA, United States.
    The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology. Read More

    An integrated surgical protocol for adult patients with hemifacial microsomia: Methods and outcome.
    PLoS One 2017 4;12(8):e0177223. Epub 2017 Aug 4.
    Plastic & Reconstructive Surgery, and Craniofacial Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
    Background: Hemifacial microsomia (HFM) features hypoplasia and asymmetry in skeletal as well as soft tissue, and correction of the deformity is difficult in terms of aesthetic outcome. The purpose of this study is to examine the validity of an integrated treatment protocol for correction of this facial deformity.

    Patients And Methods: A retrospective study was performed on adult HFM patients who received two-jaw orthognathic surgery combined with facial contouring procedures in the first stage, and fat injection for the residual facial deficiency in the second stage. Read More

    A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.
    BMC Genet 2017 Aug 2;18(1):74. Epub 2017 Aug 2.
    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.
    Background: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Read More

    The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35.
    Biochim Biophys Acta 2017 10 29;1864(10):1844-1854. Epub 2017 Jul 29.
    Department of Life Sciences, University of Trieste, Italy; Institute for Maternal and Child Health e IRCCS "Burlo Garofolo", Trieste, Italy. Electronic address:
    MID1/TRIM18 is a member of the TRIM family of ubiquitin E3 ligases characterized by the presence of a conserved RING-containing N-terminal tripartite motif. Mutations in the MID1 gene have been associated with the X-linked form of Opitz Syndrome, a developmental disorder characterized by midline defects and intellectual disability. The effect of MID1 E3 ligase activity within the cell and the role in the pathogenesis of the disease is still not completely unraveled. Read More

    Clinical characteristics of Crouzon syndrome.
    Oman J Ophthalmol 2017 May-Aug;10(2):120-122
    Department of Internal Disease, Baglar Hospital, Diyarbakir, Turkey.
    Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. Read More

    A Rare Eyeball Luxation After Cranioplasty and a Four-Year Follow-Up.
    J Craniofac Surg 2017 Sep;28(6):e595-e597
    Maxillofacial Surgery Center, Plastic Surgery Hospital of Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS&PUMC), Beijing, China.
    A rare patient of reducible eyeball luxation after cranioplasty in a child Crouzon syndrome was reported. To remedy the patient's chronic intracranial hypertension and brachycephaly, orbitofrontal advancement and cranial vault remodeling were carried out. About 25 days of postoperation, an acute eyeball luxation was observed, with the presence of a subcutaneous accumulation of liquid in the bilateral temporal regions. Read More

    Mechanism of midline defect-causing mutation P151L in MID1 revealed.
    FEBS J 2017 07;284(14):2167-2169
    Department of Molecular Biology & Genetics, Cornell University, Ithaca, NY, USA.
    The P151L mutation in the B-box1 domain of MID1 causes midline defects in X-linked Opitz G Syndrome. MID1 is known to be a key regulator of phosphatase PP2A through formation of a complex with its catalytic (PP2Ac) and regulatory (α4) subunits. Wright et al. Read More

    Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.
    Hereditas 2018 3;155. Epub 2017 Jul 3.
    State Key Laboratory for Conservation and Utilization of Bio-resources in Yunnan, Yunnan University, Kunming, China.
    Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the identity-by-decent (IBD) segments and compare the frequency among the patients and normal relatives. Read More

    Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review.
    J Plast Reconstr Aesthet Surg 2017 Oct 7;70(10):1449-1456. Epub 2017 Feb 7.
    Department of Plastic and Reconstructive Surgery, Osaka City General Hospital, Japan. Electronic address:
    Nager syndrome, also known as Nager acrofacial dysostosis, was first described by Nager and de Reynier in 1948. The patients commonly present with micrognathia, and a preventive tracheostomy is necessary when there are symptoms of upper airway obstruction. Mandibular distraction osteogenesis is considered as an effective procedure, which not only improves micrognathia but also minimizes the chances of tracheostomy. Read More

    What's New in Syndromic Craniosynostosis Surgery?
    Plast Reconstr Surg 2017 Jul;140(1):82e-93e
    Philadelphia, Pa. From the Division of Plastic Surgery, The Children's Hospital of Philadelphia; and the Division of Plastic Surgery, Perelman School of Medicine, University of Pennsylvania.
    Learning Objectives: After studying this article, the participant should be able to: 1. Understand the role of prenatal screening and counseling of parents of unborn children with syndromic craniosynostosis. 2. Read More

    Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
    Orthod Craniofac Res 2017 Jun;20 Suppl 1:50-56
    Children's Mercy Hospital, Kansas City, MO, USA.
    Objectives: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Read More

    A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
    Eur J Hum Genet 2017 Sep 14;25(9):1083-1086. Epub 2017 Jun 14.
    Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, University Bordeaux, Bordeaux, France.
    Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity. Recently, MYT1, encoding the myelin transcription factor 1, was reported as the first gene involved in OAVS, within the retinoic acid (RA) pathway. Fifty-seven OAVS patients originating from Brazil were screened for MYT1 variants. Read More

    Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.
    Mol Syndromol 2017 Mar 13;8(2):93-97. Epub 2017 Jan 13.
    Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
    Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An overlapping phenotype with Muenke and Crouzon syndrome with acanthosis nigricans (FGFR3 mutations) is known. The clinical diagnosis can be corroborated by molecular studies in about 80-90% of the cases. Read More

    Role of Primary Cilia in Odontogenesis.
    J Dent Res 2017 Aug 12;96(9):965-974. Epub 2017 Jun 12.
    1 Institute of Animal Physiology and Genetics, v.v.i., Czech Academy of Sciences, Brno, Czech Republic.
    Primary cilium is a solitary organelle that emanates from the surface of most postmitotic mammalian cells and serves as a sensory organelle, transmitting the mechanical and chemical cues to the cell. Primary cilia are key coordinators of various signaling pathways during development and maintenance of tissue homeostasis. The emerging evidence implicates primary cilia function in tooth development. Read More

    Minor Suture Fusion in Syndromic Craniosynostosis.
    Plast Reconstr Surg 2017 Sep;140(3):434e-445e
    Winston Salem, N.C.; Philadelphia, Pa.; New Haven, Conn.; and New York, N.Y. From the Department of Plastic and Reconstructive Surgery, Wake Forest University; the Division of Plastic Surgery, University of Pennsylvania; the Division of Plastic and Reconstructive Surgery, Yale University; and the Hansjorg Wyss Department of Plastic Surgery and the Department of Radiology, New York University.
    Background: Infants with craniofacial dysostosis syndromes may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies. Delayed presentation of their calvarial phenotype is known as progressive postnatal craniosynostosis. Minor sutures/synchondroses are continuations of major sutures toward and within the skull base. Read More

    Alar Pinning in Rigid External Distraction for Midfacial Hypoplasia.
    Ann Plast Surg 2017 Sep;79(3):275-279
    From the *Division of Plastic and Reconstructive Surgery, Department of Surgery, Washington University School of Medicine in St Louis, St Louis, MO; and †Department of Plastic and Reconstructive Surgery, The Warren Alpert Medical School of Brown University, Providence, RI.
    Background: Distraction osteogenesis with a rigid external distractor is a widely accepted treatment for midfacial hypoplasia. In this study, the authors introduce the utilization of alar pinning with the external halo distractor for maxillary advancement, in place of an oral splint.

    Methods: A retrospective chart review was conducted of 7 patients who successfully underwent distraction osteogenesis using the alar pinning technique. Read More

    Mandibulofacial dysostosis Bauru type: Refining the phenotype.
    Am J Med Genet A 2017 May 30. Epub 2017 May 30.
    Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA/USP), Bauru, São Paulo, Brazil.
    Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and micrognathia. Here, we describe the clinical and radiographic sings of 13 individuals (12 female and 1 male) from eight unrelated kindreds with MFD Bauru type, including four previously reported cases, treated at the Hospital for Rehabilitation of Craniofacial Anomalies. The clinical phenotype was characterized by severe underdevelopment of mandible, midface hypoplasia, orofacial cleft, bitemporal narrowing, mild upper eyelid down slanting, high nasal bridge, thick and everted lower lip, minor ears abnormalities, and hearing loss. Read More

    Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.
    FEBS J 2017 Jul 14;284(14):2183-2193. Epub 2017 Jun 14.
    Department of Chemistry and Center of Biomolecular Science, George Washington University, DC, USA.
    Mutations of human MID1 are associated with X-linked Opitz G Syndrome (XLOS), which is characterized by midline birth defects. XLOS-observed mutations within the MID1 B-box1 domain are associated with cleft lip/palate, wide-spaced eyes and hyperspadias. Three of the four XLOS-observed mutations in the B-box1 domain results in unfolding but the structural and functional effects of the P151L mutation is not characterized. Read More

    One-Stage Treatment for Adult Patients With Crouzonoid Appearance by Orthognathic and Face Contouring Surgery.
    J Craniofac Surg 2017 Jul;28(5):e441-e444
    *Department of Plastic and Reconstructive Surgery, Seoul National University Hospital †Ever Plastic Surgery Clinic, Seoul, Korea.
    Crouzon syndrome is a rare genetic disorder with autosomal-dominant inheritance that shows a triad of hallmark characteristics: craniosynostosis, exophthalmos, and midface retrusion. General treatment protocol for patients with Crouzon syndrome has already been established, but there is no standard treatment strategy for adult patients with Crouzonoid appearance. The authors present clinical patients of 1-stage orthognathic and face contouring surgery to achieve functional and aesthetic improvement. Read More

    The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome.
    J Craniomaxillofac Surg 2017 Jul 8;45(7):1069-1073. Epub 2017 Apr 8.
    Department of Plastic, Reconstructive and Hand Surgery, Dutch Craniofacial Centre, Rotterdam, The Netherlands.
    Introduction: The investigators hypothesized that patients with Crouzon syndrome and premature fusion of the spheno-occipital synchondrosis (SOS) more often have, or have more severe midface hypoplasia and obstructive sleep apnea (OSA).

    Methods: A prospective cohort study was performed among patients with Crouzon syndrome to analyze SOS closure, midface hypoplasia represented by the sella-nasion angle (SNA) and OSA.

    Results: Forty patients were included in whom the OSA-prevalence was 65%. Read More

    Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality.
    J Craniofac Surg 2017 May;28(3):696-699
    *Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine †Department of Otolaryngology, Texas Children's Hospital, Houston, TX.
    Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Read More

    Use positional screws for Le Fort I osteotomy fixation: technical note.
    Oral Maxillofac Surg 2017 Sep 1;21(3):347-349. Epub 2017 May 1.
    Department of Oral and Maxillofacial Surgery, College of Dentistry, Federal University of Ceará, Sobral, Ceará, Brazil.
    In recent years, several studies related to fixation systems have been published, but few suggest any variations of the Le Fort I osteotomy technique, and the use of plates and screws placed along the canine and zygomatic pillar are common. The 20-year-old patient with Crouzon syndrome presented with severe hypoplasia of the maxillary, mandibular prognathism, and class III facial pattern. The patient underwent orthognathic surgery and high Le Fort I osteotomy with the fixation of eight positional screws. Read More

    The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.
    Clin Genet 2017 Apr 29. Epub 2017 Apr 29.
    Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
    Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C as an effector of this pathway. We report heterozygous MEF2C loss-of-function as a possible cause of question mark ear associated with intellectual deficiency. Read More

    Auricular Reconstruction in Hemifacial Microsomia with an Expanded Two-Flap Method.
    Plast Reconstr Surg 2017 May;139(5):1200-1209
    Beijing, People's Republic of China From the Department of Auricular Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.
    Background: Reconstruction of external ear is important for the child/adult with craniofacial deformities to achieve balance and harmony of the face and head. The aim of this study was to investigate the clinical application of an expanded two-flap method for auricular reconstruction in hemifacial microsomia.

    Methods: Between January of 2014 and November of 2015, 111 hemifacial microsomia patients with microtia underwent auricular reconstruction with an expanded two-flap method. Read More

    Treatment of infants with Syndromic Robin sequence with modified palatal plates: a minimally invasive treatment option.
    Head Face Med 2017 Mar 30;13(1). Epub 2017 Mar 30.
    Interdisciplinary Centre for Craniofacial Malformations, Tuebingen University Hospital, Calwerstrasse 7, 72076, Tuebingen, Germany.
    Background: Infants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients. Read More

    Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience.
    Plast Reconstr Surg 2017 Apr;139(4):967-975
    London and Oxford, United Kingdom From the Departments of Craniofacial Surgery and Ophthalmology, Great Ormond Street Hospital, London, United Kingdom.
    Background: Complex surgery for appearance change is controversial. Correction of orbital hypertelorism risks diplopia and loss of stereopsis for aesthetic gain. The risk-to-benefit ratio remains ill-defined. Read More

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