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    Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis.
    Orphanet J Rare Dis 2018 Apr 23;13(1):63. Epub 2018 Apr 23.
    Center for Cleft Palate & Craniofacial Malformations, Tübingen University Hospital, Tübingen, Germany.
    Background: Infants and children with syndromic craniosynostosis (SCS), such as Apert-, Crouzon- or Pfeiffer syndrome, are prone to sleep disordered breathing (SDB) including obstructive sleep apnea and upper airway resistance syndrome (OSAS, UARS), potentially leading to tracheostomy. We modified the Tübingen Palatal Plate (TPP), an oral appliance with a velar extension effectively treating airway obstruction in Robin sequence, by attaching a tube to its velar extension to bridge the narrow pharyngeal airway in SCS patients. Here, we evaluated this treatment concept. Read More
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    Distraction osteogenesis in the surgical management of syndromic craniosynostosis: a comprehensive review of published papers.
    Br J Oral Maxillofac Surg 2018 Apr 13. Epub 2018 Apr 13.
    Department of Oro-Maxillofacial Surgical and Medical Science, Faculty of Dentistry, University of Malaya, 50603 Kuala Lumpur, Malaysia.
    Our aim was to summarise current published evidence about the prognosis of various techniques of craniofacial distraction osteogenesis, particularly its indications, protocols, and complications. Published papers were acquired from online sources using the keywords "distraction osteogenesis", "Le Fort III", "monobloc", and "syndromic craniosynostosis" in combination with other keywords, such as "craniofacial deformity" and "midface". The search was confined to publications in English, and we followed the guidelines of the PRISMA statement. Read More
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    Modified Le Fort III osteotomy: A simple solution to severe midfacial hypoplasia.
    J Craniomaxillofac Surg 2018 May 21;46(5):837-843. Epub 2018 Mar 21.
    Service of Oral and Maxillofacial Surgery, Hospital Punta Arenas, Chile.
    Purpose: There are multiple conditions that may affect the development of the middle third of the face and with varying degrees of severity. The surgical treatment alternatives for major midfacial sagittal deficiencies consist in Le Fort I, II, or III with conventional osteotomies or with distraction osteogenesis (DO). Both techniques have advantages and disadvantages that should be evaluated specifically in each case. Read More
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    Postoperative Hearing Loss in a Patient With Crouzon Syndrome: A Case Report.
    A A Pract 2018 Jan 25. Epub 2018 Jan 25.
    From the Departments of Anesthesiology, Perioperative and Pain Medicine and Otolaryngology, Boston Children's Hospital, Boston, Massachusetts.
    Sudden postoperative hearing loss is rare, and thought to be caused by a variety of mechanisms. Here we report on a patient with Crouzon syndrome who experienced multiple episodes of postoperative hearing loss, with persistent hearing loss occurring after she received nitrous oxide as part of a general anesthetic. Nitrous oxide is known to cause pressure changes in closed air spaces. Read More
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    Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.
    Biochem Biophys Res Commun 2018 04 21;499(1):78-85. Epub 2018 Mar 21.
    Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan. Electronic address:
    Treacher Collins syndrome (TCS) is a craniofacial developmental disorder whose key feature is a combination of symptoms. For example, a patient could have bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, and atresia of the external auditory canals. TCS3 is caused by mutations of the polr1c gene, which encodes RNA polymerase I and III subunit C (POLR1C). Read More
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    Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.
    Cleft Palate Craniofac J 2018 Jan 1:1055665618760412. Epub 2018 Jan 1.
    1 Department of Genetics and Biotechnology, School of Physical Sciences, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
    Introduction: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1 genes cause the common craniosynostosis syndromes Muenke, Crouzon and Crouzon with acanthosis nigricans, Apert, Pfeiffer, Saethre-Chotzen, and Craniofrontonasal. Overlapping features among craniosynostosis syndromes, phenotypic heterogeneity even within the same syndrome, especially in the case of Muenke syndrome, and inadequate clinical evaluation can lead to misdiagnosis, which molecular testing can help clarify. Read More
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    Glaucoma with Crouzon Syndrome.
    J Glaucoma 2018 Mar 19. Epub 2018 Mar 19.
    King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
    Background: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis.

    Observation: A 10-year-old female patient with Crouzon syndrome and congenital glaucoma treated with trabeculectomy and ocular hypotensive medications was examined. The patient had proptosis, exposure keratopathy, megalocornea, thin central corneal thickness, a shallow anterior chamber, mild anterior subcapsular cataract, and a cup-to-disc ratio of 0. Read More
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    Healthcare and psychosocial experiences of individuals with craniofacial microsomia: Patient and caregivers perspectives.
    Int J Pediatr Otorhinolaryngol 2018 Apr 7;107:164-175. Epub 2018 Feb 7.
    Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, 4650 Sunset Blvd., Mailstop #96, Los Angeles, CA, 90027, USA. Electronic address:
    Objective: Craniofacial microsomia (CFM) is primarily characterized by underdevelopment of the ear and mandible, with several additional possible congenital anomalies. Despite the potential burden of care and impact of CFM on multiple domains of functioning, few studies have investigated patient and caregiver perspectives. The objective of this study was to explore the diagnostic, treatment-related, and early psychosocial experiences of families with CFM with the aim of optimizing future healthcare delivery. Read More
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    Improvement of Color Vision Following Posterior Cranial Vault Distraction for Crouzon Syndrome.
    J Craniofac Surg 2018 Feb 26. Epub 2018 Feb 26.
    Department of Plastic Surgery, Medical College of Wisconsin, Milwaukee, WI.
    Crouzon syndrome (CS) is one of the craniosynostosis syndromes that leads to early fusion of cranial sutures and increased intracranial pressure. Intracranial hypertension is a serious complication that may lead to vision loss and cognitive impairment. Early detection and management are necessary to prevent complications. Read More
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    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
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    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
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    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
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    Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
    J Appl Genet 2018 May 1;59(2):133-147. Epub 2018 Feb 1.
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
    Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with the presence of additional clinical symptoms, including hand and feet malformations, skeletal and cardiac defects, developmental delay, and others. Read More
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    Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
    Clin Dysmorphol 2018 Apr;27(2):31-35
    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
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    Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.
    Cleft Palate Craniofac J 2018 Feb 14;55(2):296-300. Epub 2017 Dec 14.
    1 Division of Plastic Surgery, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided. Read More
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    Reduced Intercarotid Artery Distance in Syndromic and Isolated Brachycephaly.
    Pediatr Neurol 2018 Feb 9;79:3-7. Epub 2017 Oct 9.
    Department of Radiology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
    Introduction: The morphology of the skull base can be altered in craniosynostoses. The objective of this study is to evaluate the reduced intercarotid artery distance in the lacerum segment in patients with syndromic and isolated brachycephaly.

    Materials And Methods: The distances between the inner walls of the carotid canal at the lacerum segment were measured on high-resolution CT scans in children with Crouzon (25), Pfeiffer (21), Apert (26), Saethre-Chotzen (7) syndromes, isolated bicoronal synostosis (9), and compared to an age-matched control group (30). Read More
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    Surgical Correction of Severe Kyphoscoliosis Associated with Crouzon Syndrome with Serious Postoperative Respiratory Problems: A Case Report.
    JBJS Case Connect 2017 Oct-Dec;7(4):e98
    Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.
    Case: A 12-year-old girl with Crouzon syndrome presented to our hospital with scoliosis (114°) and kyphosis from T8 to T12 (138°). After she had been in halo-gravity traction for 2 weeks, we performed posterior correction and fusion surgery from T3 to L3, with a posterior vertebral column resection of T10. She experienced postoperative respiratory failure and remained on a ventilator for 4 weeks. Read More
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    Choanal Atresia and Craniosynostosis: Development and Disease.
    Plast Reconstr Surg 2018 01;141(1):156-168
    University Park, Pa.; New York, N.Y.; and Pessac, France From the Department of Anthropology, Pennsylvania State University; the Departments of Genetics and Genomic Sciences and Otolaryngology, Icahn School of Medicine at Mount Sinai; and the University of Bordeaux, Bordeaux Archaeological Sciences Cluster of Excellence.
    A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Read More
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    Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation.
    J Oral Maxillofac Surg 2018 Mar 26;76(3):646.e1-646.e12. Epub 2017 Nov 26.
    Professor and Senior Consultant, Division of Neurosurgery, Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
    Crouzon syndrome (CS) is the most common craniosynostosis syndrome and requires a comprehensive management strategy for the optimization of care and functional rehabilitation. This report presents a case series of 6 pediatric patients diagnosed with CS who were treated with distraction osteogenesis (DO) to treat serious functional issues involving severe orbital proptosis, an obstructed nasopharyngeal airway, and increased intracranial pressure (ICP). Three boy and 3 girls were 8 months to 6 years old at the time of the operation. Read More
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    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
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    Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.
    Arq Neuropsiquiatr 2017 Dec;75(12):862-868
    Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil.
    Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities.

    Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. Read More
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    Sleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome.
    Acta Neurol Belg 2017 Dec 12. Epub 2017 Dec 12.
    Department of Neurology, School of Medicine, University of Zagreb, Referral Centre of the Ministry of Health of the Republic of Croatia for Epilepsy, University Hospital Centre Zagreb, Kispaticeva 12, Zagreb, 10000, Croatia.
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    Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.
    Mol Genet Genomics 2018 Apr 11;293(2):569-577. Epub 2017 Dec 11.
    ENT Institute, Eye & ENT Hospital of Fudan University, Shanghai, 200031, China.
    Treacher Collins syndrome (TCS) (OMIM 154500) is a rare congenital craniofacial disorder with an autosomal dominant manner of inheritance in most cases. To date, three pathogenic genes (TCOF1, POLR1D and POLR1C) have been identified. In this study, we conducted mutational analysis on Chinese TCS patients to reveal a mutational spectrum of known causative genes and show phenotype-genotype data to provide more information for gene counselling and future studies on the pathogenesis of TCS. Read More
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    Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome.
    Qual Health Res 2018 Feb 10;28(3):357-370. Epub 2017 Dec 10.
    2 University of Washington Bothell, Bothell, Washington, USA.
    In the United States, one in 60,000 adults live with Crouzon Syndrome (CS) and facial malformations. Phenomenological studies about their lived experiences and quality of life are lacking. The purpose of this participatory action research study was to gain a richer understanding of the perceived biopsychosocial and socioecological factors that impact quality of life for adults living with CS using Photovoice. Read More
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    Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome.
    Arch Oral Biol 2018 Feb 27;86:123-130. Epub 2017 Oct 27.
    Adelaide Dental School, The University of Adelaide, Adelaide, SA 5005, Australia; Australian Craniofacial Unit, Women's and Children's Hospital, 72 King William St, Adelaide, SA 5006, Australia.
    Objectives: Fibroblast growth factor receptor 2 (FGFR2) mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. Our aim was to conduct extensive phenotyping of the maxillary, mandibular and dental morphology associated with this mutation.

    Materials And Methods: Morphometric data were obtained from 40 mice, representing two genotypes (Crouzon and wild-type) and two sexes (males and females) (n=10 in each group). Read More
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    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
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    Three-dimensional imaging of soft and hard facial tissues in patients with craniofacial syndromes: a systematic review of methodological quality.
    Dentomaxillofac Radiol 2018 Feb 18;47(3):20170154. Epub 2017 Dec 18.
    Department of Oral Health Sciences - Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven , Leuven , Belgium.
    Objectives: To systematically review the methodological quality of three-dimensional imaging studies of patients with craniofacial syndromes and to propose recommendations for future research.

    Methods: PubMed, Embase and Cochrane databases as well as Grey literature were electronically searched. Inclusion criteria were patients with genetic syndromes with craniofacial manifestations and three-dimensional imaging of facial soft and/or hard tissues. Read More
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    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
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    Rice diversity panel provides accurate genomic predictions for complex traits in the progenies of biparental crosses involving members of the panel.
    Theor Appl Genet 2018 Feb 14;131(2):417-435. Epub 2017 Nov 14.
    Cirad, UMR AGAP, Avenue Agropolis, 34398, Montpellier Cedex 5, France.
    Key Message: Rice breeding programs based on pedigree schemes can use a genomic model trained with data from their working collection to predict performances of progenies produced through rapid generation advancement. So far, most potential applications of genomic prediction in plant improvement have been explored using cross validation approaches. This is the first empirical study to evaluate the accuracy of genomic prediction of the performances of progenies in a typical rice breeding program. Read More
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    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
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    STAR syndrome plus: The first description of a female patient with the lethal form.
    Am J Med Genet A 2017 Dec 31;173(12):3226-3230. Epub 2017 Oct 31.
    Department of Pathophysiology and Transplantation, Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
    The STAR syndrome is a rare X-linked dominant developmental disorder caused by point mutations in the single FAM58A gene or deletions involving FAM58A and its flanking genes. The STAR phenotype is characterized by a rather homogeneous constellation of facial dysmorphisms and malformations summarized by its acronym, Syndactyly, Telecanthus, Anogenital, and Renal malformations. Here we describe a female patient with STAR syndrome and a 130 kb deletion at Xq28, including the FAM58A gene. Read More
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.
    Hum Mol Genet 2017 Nov;26(21):4290-4300
    Department of Biochemistry and Molecular Biology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
    Treacher Collins syndrome (TCS) is a craniofacial disorder that is characterized by the malformation of the facial bones. Mutations in three genes (TCOF1, POLR1C and POLR1D) involved in RNA polymerase I (Pol I) transcription account for more than 90% of disease cases. Two of these TCS-associated genes, POLR1C and POLR1D, encode for essential Pol I/III subunits that form a heterodimer necessary for Pol I/III assembly, and many TCS mutations lie along their evolutionarily conserved dimerization interface. Read More
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    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
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    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
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    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
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    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
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    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
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