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    Custom-Made Titanium Miniplates Associated With Ultrahigh-Molecular-Weight Polyethylene Graft in Orthognathic Surgery: An Adjunct to Maxillary Advancement.
    J Oral Maxillofac Surg 2018 Jan 31. Epub 2018 Jan 31.
    Specialist in Oral and Maxillofacial Surgery, Joao de Barros Barreto Hospital, Belém; Master Student in Oral and Maxillofacial Surgery, Federal University of Pará, Belém, PA, Brazil. Electronic address:
    Patients with considerable maxillomandibular anteroposterior discrepancies and maxillary hypoplasia require corrective treatment through orthognathic surgery. However, in the treatment of severe maxillary retrognathism, it is necessary to reconstruct areas of bone deficiency through grafting techniques in addition to maxillary advancement using only the Le Fort I osteotomy. Treatment in these patients is more challenging and requires high surgical predictability. Read More

    Surgical Outcome After Less "Rigid" Fixation in Open Cranial Vault Remodeling for Craniosynostosis.
    J Craniofac Surg 2018 Feb 12. Epub 2018 Feb 12.
    Department of Plastic and Reconstructive Surgery, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur.
    : Open cranial vault remodeling techniques require rigid fixation with hardware such as plates and screws; however, complications can occur. The purpose of this study was to assess the surgical outcome after open reconstruction for craniosynostosis with less rigid fixation using nonabsorbable suture.

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

    Role of cone-beam computed tomography with a large field of view in Goldenhar syndrome.
    Am J Orthod Dentofacial Orthop 2018 Feb;153(2):269-277
    Department of Experimental and Clinical Biomedical Sciences, Radiodiagnostic Unit number 2, University of Florence, Azienda Ospedaliero, Universitaria Careggi, Florence, Italy.
    Introduction: Goldenhar syndrome is a rare disease with hemifacial microsomia and craniofacial disorders originating from the first and second branchial arches, such as ocular, auricular, and vertebral anomalies. The complexity and variety of the ways in which the disease presents itself usually need several examinations. In this study, we aimed to evaluate both craniofacial and vertebral skeletal anomalies and asymmetries between the nonaffected and affected sides in patients with Goldenhar syndrome by using cone-beam computed tomography. Read More

    Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
    J Appl Genet 2018 Feb 1. Epub 2018 Feb 1.
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
    Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with the presence of additional clinical symptoms, including hand and feet malformations, skeletal and cardiac defects, developmental delay, and others. Read More

    Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
    Clin Dysmorphol 2018 Jan 29. Epub 2018 Jan 29.
    Victorian Clinical Genetics Services, Murdoch Children's Research Institute.
    Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Read More

    Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.
    Cleft Palate Craniofac J 2018 Feb 14;55(2):296-300. Epub 2017 Dec 14.
    1 Division of Plastic Surgery, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided. Read More

    Reduced Intercarotid Artery Distance in Syndromic and Isolated Brachycephaly.
    Pediatr Neurol 2018 Feb 9;79:3-7. Epub 2017 Oct 9.
    Department of Radiology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
    Introduction: The morphology of the skull base can be altered in craniosynostoses. The objective of this study is to evaluate the reduced intercarotid artery distance in the lacerum segment in patients with syndromic and isolated brachycephaly.

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

    Surgical Correction of Severe Kyphoscoliosis Associated with Crouzon Syndrome with Serious Postoperative Respiratory Problems: A Case Report.
    JBJS Case Connect 2017 Oct-Dec;7(4):e98
    Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.
    Case: A 12-year-old girl with Crouzon syndrome presented to our hospital with scoliosis (114°) and kyphosis from T8 to T12 (138°). After she had been in halo-gravity traction for 2 weeks, we performed posterior correction and fusion surgery from T3 to L3, with a posterior vertebral column resection of T10. She experienced postoperative respiratory failure and remained on a ventilator for 4 weeks. Read More

    Choanal Atresia and Craniosynostosis: Development and Disease.
    Plast Reconstr Surg 2018 01;141(1):156-168
    University Park, Pa.; New York, N.Y.; and Pessac, France From the Department of Anthropology, Pennsylvania State University; the Departments of Genetics and Genomic Sciences and Otolaryngology, Icahn School of Medicine at Mount Sinai; and the University of Bordeaux, Bordeaux Archaeological Sciences Cluster of Excellence.
    A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Read More

    Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation.
    J Oral Maxillofac Surg 2017 Nov 26. Epub 2017 Nov 26.
    Professor and Senior Consultant, Division of Neurosurgery, Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
    Crouzon syndrome (CS) is the most common craniosynostosis syndrome and requires a comprehensive management strategy for the optimization of care and functional rehabilitation. This report presents a case series of 6 pediatric patients diagnosed with CS who were treated with distraction osteogenesis (DO) to treat serious functional issues involving severe orbital proptosis, an obstructed nasopharyngeal airway, and increased intracranial pressure (ICP). Three boy and 3 girls were 8 months to 6 years old at the time of the operation. Read More

    Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
    Cytogenet Genome Res 2017 16;153(2):66-72. Epub 2017 Dec 16.
    Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
    Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Read More

    Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.
    Arq Neuropsiquiatr 2017 Dec;75(12):862-868
    Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil.
    Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities.

    Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. Read More

    Sleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome.
    Acta Neurol Belg 2017 Dec 12. Epub 2017 Dec 12.
    Department of Neurology, School of Medicine, University of Zagreb, Referral Centre of the Ministry of Health of the Republic of Croatia for Epilepsy, University Hospital Centre Zagreb, Kispaticeva 12, Zagreb, 10000, Croatia.

    Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome.
    Qual Health Res 2018 Feb 10;28(3):357-370. Epub 2017 Dec 10.
    2 University of Washington Bothell, Bothell, Washington, USA.
    In the United States, one in 60,000 adults live with Crouzon Syndrome (CS) and facial malformations. Phenomenological studies about their lived experiences and quality of life are lacking. The purpose of this participatory action research study was to gain a richer understanding of the perceived biopsychosocial and socioecological factors that impact quality of life for adults living with CS using Photovoice. Read More

    Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome.
    Arch Oral Biol 2018 Feb 27;86:123-130. Epub 2017 Oct 27.
    Adelaide Dental School, The University of Adelaide, Adelaide, SA 5005, Australia; Australian Craniofacial Unit, Women's and Children's Hospital, 72 King William St, Adelaide, SA 5006, Australia.
    Objectives: Fibroblast growth factor receptor 2 (FGFR2)mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. Our aim was to conduct extensive phenotyping of the maxillary, mandibular and dental morphology associated with this mutation.

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

    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 Dec 18:20170154. Epub 2017 Dec 18.
    Department of Oral Health Sciences - Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven , Leuven , Belgium.
    Objectives: To systematically review the methodological quality of three-dimensional imaging studies of patients with craniofacial syndromes and to propose recommendations for future research.

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

    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 2018 Feb 25;45(2):207-210. 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 an Experimental Model.
    J Craniofac Surg 2018 Jan;29(1):237-242
    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 2018 Feb;141(2):437-445
    Paris and Boulogne-Billancourt, France From Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Necker-Enfants Malades, Service de Chirurgie Maxillofaciale et Plastique; Centre de Références des Malformations de la Face et de la Cavité Buccale, Unité de Chirurgie Crâniofaciale, Service de Neurochirurgie, and Centre de Référence des Malformations Crânio-faciales, Université Paris Descartes; INSERM U1132 and University Paris-Diderot Hôpital Lariboisière; and Clinique Marcel Sembat, Ramsay-Générale de Santé.
    Background: Frontofacial monobloc advancement creates a communication between the anterior cranial fossa and nasal cavities. To tackle this issue, transorbital pericranial pedicled flaps are routinely performed in the authors' center. This study aimed to assess the postoperative ossification of the anterior skull base and pedicled flaps following frontofacial monobloc advancement, and to identify factors influencing this ossification. Read More

    Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome.
    World Neurosurg 2018 Jan 10;109:e460-e467. 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

    Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.
    Am J Med Genet A 2017 Oct 17;173(10):2808-2813. Epub 2017 Aug 17.
    Drexel University College of Medicine, Philadelphia, Pennsylvania.
    Diaphanospondylodysostosis (DSD) and ischiospinal dysostosis (ISD) are both rare skeletal dysplasias consisting of abnormal axial skeletal development but normal appendicular skeletal development. Both disorders recently have been found to result from mutations in the BMPER gene. We report a patient with one deletion and one mutation of the BMPER gene who has features most consistent with DSD but who has survived to age 9 years. 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 08 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

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