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    Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
    Wiley Interdiscip Rev Dev Biol 2017 Feb 10. Epub 2017 Feb 10.
    Division of Dentistry, Faculty of Biology, Medicine & Health, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Manchester, UK.
    Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies. Read More

    Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
    Am J Med Genet A 2017 Feb 9. Epub 2017 Feb 9.
    Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
    Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p. Read More

    Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality.
    J Craniofac Surg 2017 Jan 30. Epub 2017 Jan 30.
    *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

    Evaluating the Efficacy of Monobloc Distraction in the Crouzon-Pfeiffer Craniofacial Deformity Using Geometric Morphometrics.
    Plast Reconstr Surg 2017 Feb;139(2):477e-487e
    London, United Kingdom; and Rotterdam, The Netherlands From the Department of Craniofacial Surgery, Great Ormond Street Hospital for Children; the Department of Medical Physics and Bioengineering, University College London Hospital; and the Department of Oral and Maxillofacial Surgery, Erasmus Medical Centre.
    Background: Crouzon-Pfeiffer syndrome is caused by mutations predominantly in the FGFR2 gene leading to syndromic craniosynostosis and midfacial hypoplasia. Monobloc distraction aims to correct both functional and aesthetic disharmony as a result of midfacial hypoplasia. This study evaluates the corrective effects and effectiveness of monobloc distraction in Crouzon-Pfeiffer patients. Read More

    Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.
    Eur J Med Genet 2017 Mar 19;60(3):190-194. Epub 2017 Jan 19.
    Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address:
    Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p. Read More

    The airway approach to a neonate with Treacher Collins syndrome - Case report.
    Rev Esp Anestesiol Reanim 2017 Jan 13. Epub 2017 Jan 13.
    Anesthesiology Department, Centro Hospitalar de Lisboa Central, EPE, Lisboa, Portugal.
    Neonates and small infants with syndromes characterized by the presence of craniofacial abnormalities may represent great challenges regarding the management of the airway. We describe the case of a 9-day-old neonate with Treacher Collins syndrome, in which a laryngeal mask was essential to improve the airway obstruction, ventilate the patient and serve as an airway conduit for a fiberoptic intubation. By presenting this case, we intend to show that in neonates with Treacher Collins syndrome, in whom difficulties ventilation and intubation are expected, a thoughtful airway management planning is mandatory. Read More

    Crouzon syndrome with multiple supernumerary teeth.
    Niger J Clin Pract 2017 Feb;20(2):261-263
    Department of Oral and Maxillofacial Radiology, School of Dentistry, Istanbul Medipol University, Istanbul, Turkey.
    Crouzon syndrome (CS) is an autosomal dominant disorder characterized by craniofacial deformities caused by the early closure of cranial sutures. It is diagnosed by the presence of a flat sphenoid bone, protrusion of eyeballs (exophthalmos), and midfacial hypoplasia. Although hypodontia is usually present in cases with CS, supernumerary teeth are rarely seen. Read More

    Analysis of the Fgfr2(C342Y) mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme.
    Biol Open 2017 Feb 15;6(2):223-231. Epub 2017 Feb 15.
    UCL Great Ormond Street, Institute of Child Health, University College London, London, WC1N 1EH, UK
    Syndromic craniosynostosis caused by mutations in FGFR2 is characterised by developmental pathology in both endochondral and membranous skeletogenesis. Detailed phenotypic characterisation of features in the membranous calvarium, the endochondral cranial base and other structures in the axial and appendicular skeleton has not been performed at embryonic stages. We investigated bone development in the Crouzon mouse model (Fgfr2(C342Y)) at pre- and post-ossification stages to improve understanding of the underlying pathogenesis. Read More

    Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences.
    J Craniofac Surg 2017 Jan;28(1):14-16
    *Division of Neurosurgery, Children's National Health System †The George Washington University School of Medicine and Health Sciences, Washington, DC ‡Department of Neurosurgery, Mayo Clinic Hospital, Rochester, MN §Division of Laboratory Medicine, Children's National Health System, Washington, DC ||TLC Perinatal, Silver Spring, MD ¶Division of Plastic and Reconstructive Surgery, Children's National Health System, Washington, DC.
    Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes. Read More

    Midface Distraction Osteogenesis Using a Modified External Device With Elastic Distraction for Crouzon Syndrome.
    J Craniofac Surg 2017 Jan 5. Epub 2017 Jan 5.
    *Department of Cleft Lip and Palate †Department of Maxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
    Purpose: Midface distraction osteogenesis has been popularized for the correction of midface hypoplasia associated with exophthalmos and obstructive sleep apnea in patients with Crouzon syndrome. The purpose of this study was to present the method of utilizing the modified external device with elastic distraction for the midface advancement in Crouzon syndrome, and the clinical outcomes and skeletal changes were analyzed.

    Methods: Five consecutive patients with Crouzon syndrome underwent Le Fort III osteotomy with midface advancement using a modified external device with elastic distraction. Read More

    Review of the Genetic Basis of Jaw Malformations.
    J Pediatr Genet 2016 Dec 12;5(4):209-219. Epub 2016 Oct 12.
    Division of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, New York, New York, United States.
    Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. Read More

    Sudden death associated with syndromic craniosynostosis.
    Forensic Sci Med Pathol 2016 Dec 28;12(4):506-509. Epub 2016 Nov 28.
    Alpha Medical s.r.o., Hraničná 2, 040 17, Košice, Slovak Republic.
    In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Read More

    Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).
    J Bone Miner Res 2016 Nov 10. Epub 2016 Nov 10.
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.
    In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Read More

    Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers.
    J Curr Ophthalmol 2016 Dec 27;28(4):232-236. Epub 2016 Aug 27.
    Doheny Eye Institute UCLA, Los Angeles, CA, USA.
    Purpose: We present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2. As a secondary aim, we examine the utility of optical coherence tomography (OCT) angiography for visualization of peripapillary vasculature obscured by myelination on other imaging modalities.

    Methods: A 24-year-old woman with Crouzon syndrome was evaluated for suspected optic neuritis in the right eye. Read More

    FGFR2 mutation in a Chinese family with unusual Crouzon syndrome.
    Int J Ophthalmol 2016 18;9(10):1403-1408. Epub 2016 Oct 18.
    Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities), Yinchuan 750001, Ningxia Hui Autonomous Region, China.
    Aim: To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome.

    Methods: All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the FGFR2 gene was employed for mutation identification. Read More

    Infant born with Robert's syndrome without prenatal care in a developing nation.
    BMJ Case Rep 2016 Oct 25;2016. Epub 2016 Oct 25.
    Department of Urogynecology, Medica Sur Lomas, Mexico City, Mexico.
    Maternal and child well-being during pregnancy can be attributed to receiving optimal prenatal care. However, in developing nations, there are many barriers to receiving this. We present a primigravid female aged 29 years with severe abdominal pain. Read More

    Surgical Strategies for Soft Tissue Management in Hypertelorbitism.
    Ann Plast Surg 2016 Oct 6. Epub 2016 Oct 6.
    From the *Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas, São Paulo, Brazil; and †Division of Pediatric Neurosurgery, Department of Neurology, School of Medical Sciences, State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
    Background: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction.

    Methods: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. Read More

    Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.
    Clin Dysmorphol 2017 Jan;26(1):18-25
    aMedical Genetics, Department of Medical Biotechnologies bBioengineering Unit, Department of Medical Biotechnologies, University of Siena cMedical Genetics Unit, Department of Medical Biotechnologies dDepartment of Neurology NINT (Neuroimmagini e Neurointerventistica), Azienda Ospedaliera Universitaria Senese eDepartment of Obstetrics and Gynecology, Azienda, Siena, Italy.
    Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal. Read More

    Syndromic Craniosynostosis.
    Facial Plast Surg Clin North Am 2016 Nov;24(4):531-543
    Division of Facial Plastic and Reconstructive Surgery, Department of Otolaryngology---Head and Neck Surgery, West Texas Craniofacial Center of Excellence, Texas Tech University Health Sciences Center, 3601 4th Street, Stop 8312, Lubbock, TX 79430, USA. Electronic address:
    Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. More than 150 syndromes are associated with craniosynostosis. This article describes some commonalities and distinguishing features and management of syndromic synostosis. Read More

    Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
    Am J Med Genet A 2017 Jan 28;173(1):157-162. Epub 2016 Sep 28.
    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
    Syndromic craniosynostoses usually occur as single gene disorders. In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). FGFR2 and FGFR3 mutations were identified in 10 of the 11 patients. Read More

    Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
    Mamm Genome 2016 Dec 26;27(11-12):587-598. Epub 2016 Sep 26.
    Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
    Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p. Read More

    Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
    Brain Dev 2017 Feb 23;39(2):177-181. Epub 2016 Sep 23.
    Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address:
    We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. He showed developmental delay and had suffered recurrent seizures beginning at 21months of age. Read More

    Fronto-facial advancement and bipartition in Crouzon-Pfeiffer and Apert syndromes: Impact of fronto-facial surgery upon orbital and airway parameters in FGFR2 syndromes.
    J Craniomaxillofac Surg 2016 Oct 21;44(10):1567-1575. Epub 2016 Aug 21.
    The Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. Electronic address:
    A major concern in FGFR2 craniofaciosynostosis is oculo-orbital disproportion, such that orbital malformation provides poor accommodation and support for the orbital contents and peri-orbita, leading to insufficient eyelid closure, corneal exposure and eventually to functional visual impairment. Fronto-facial monobloc osteotomy followed by distraction osteogenesis aims to correct midfacial growth deficiencies in Crouzon-Pfeiffer syndrome patients. Fronto-facial bipartition osteotomy followed by distraction is a procedure of choice in Apert syndrome patients. Read More

    Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    J Appl Genet 2017 Feb 14;58(1):93-98. Epub 2016 Sep 14.
    Department of Biology and Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211, Gdansk, Poland.
    Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1. Read More

    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
    PLoS Genet 2016 Sep 13;12(9):e1006307. Epub 2016 Sep 13.
    Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.
    The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutations in SF3B4, a component of the U2 small nuclear ribonucleoprotein particle (U2 snRNP). Read More

    Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors.
    Ann Maxillofac Surg 2016 Jan-Jun;6(1):135-40
    Department of Oral and Maxillofacial Surgery, Medical University, Baku, Azerbaijan.
    Crouzon syndrome is one of the frequent pathologies within craniosynostosis syndrome. Current progress in computers and biotechnologies allows improving surgical approach and forecasting final result of reconstruction as well. We present a case of successful surgical treatment of Crouzon syndrome, done by application of virtual planning allowing determining "monobloc" features, type of reconstruction and distraction protocol as well. Read More

    Lateral canthal repositioning in syndromic, antimongoloid slant.
    Ann Maxillofac Surg 2016 Jan-Jun;6(1):50-3
    Director and Consultant Maxillofacial Surgeon, Balaji Dental and Craniofacial Hospital, Chennai, Tamil Nadu, India.
    Introduction: To report a single center's experience in correcting antimongoloid slant in Asian eyes using a minimally invasive approach.

    Methods: Retrospective analysis of patients undergoing correction for antimongoloid slant at author's center, from 2007 to 2013 formed the study group. Concomitant surgical procedures were recorded. Read More

    [Craniosynostosis and strabismus].
    Zhonghua Yan Ke Za Zhi 2016 Aug;52(8):626-30
    Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
    Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified into Non-syndromic Craniosynostosis (NSC) and Syndromic Craniosynostoses(SC).NCS only has different abnormality of skull according to which cranial suture is involved while extra malformation of midface and limbs present in SCS. Common SCS contains Crouzon Syndrome, Apert Syndrome, Pfeiffer Sydrome, and etc. Read More

    FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
    Am J Med Genet A 2016 Dec 2;170(12):3215-3221. Epub 2016 Aug 2.
    Faculty of Dentistry, University of Toronto, Toronto, Canada.
    Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS), and Apert (AS) syndrome, with clinical characteristics such as midface hypoplasia, hypertelorism, and in some cases, limb defects. Mutations in Fibroblast Growth Factor Receptor-2 comprise the majority of known mutations in syndromic forms of craniosynostosis. Read More

    Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome.
    Mol Med Rep 2016 Sep 11;14(3):1941-6. Epub 2016 Jul 11.
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑Sen University, Guangzhou, Guangdong 510060, P.R. China.
    Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak‑like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. Two families underwent complete ophthalmic examination, and three patients in two families were diagnosed with Crouzon syndrome. Read More

    Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients.
    Sleep Breath 2016 Sep 16;20(3):1119-29. Epub 2016 Jul 16.
    Center of Sleep Disordered Breathing, Department of Oral and Craniomaxillofacial Science, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, 639 Zhizaoju Road, Shanghai, 200011, China.
    Purpose: Pediatric patients with Crouzon syndrome have great possibilities of suffering from obstructive sleep apnea (OSA), which is mainly due to midfacial hypoplasia and facial deformities. For most patients, a multidisciplinary and sequential treatment plan is necessary to make for Crouzon syndrome often has different phenotypes of different severity in OSA and facial deformities. Typical patients were selected in this paper to illustrate the necessity of individualized therapy for treating OSA. Read More

    The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery.
    J AAPOS 2016 Aug 12;20(4):315-9. Epub 2016 Jul 12.
    Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, South Australia.
    Background: Pfeiffer syndrome is a rare, genetic condition characterized by craniosynostosis and midface hypoplasia, with resultant ophthalmic sequelae. The gold standard of treatment is fronto-orbital advancement. We analyzed a large database of Pfeiffer syndrome patients to report the rate of ophthalmic sequelae and the long-term visual outcomes after craniofacial surgery and to compare Pfeiffer syndrome to other craniosynostosis syndromes. Read More

    The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome.
    J Craniofac Surg 2016 Jul;27(5):1244-6
    Department of Oral and Maxillofacial Surgery, Dongfeng Stomotology Hospital, The General Hospital of Dongfeng, Hubei University of Medicine, Shiyan, China.
    Objective: To characterize the phenotypes of spheno-occipital synchondrosis (SOS) in Chinese patients with Crouzon syndrome.

    Methods: Twelve patients with Crouzon syndrome were included in this retrospective study, and were divided into 2 groups. The first group included 5 patients (5-7-year old), whereas 7 patients were included in the second group (8-11-year old). Read More

    Mandibular dysostosis without microphthalmia caused by OTX2 deletion.
    Am J Med Genet A 2016 Sep 5;170(9):2466-70. Epub 2016 Jul 5.
    Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
    Mutations in OTX2 are mostly identified in patients with anophthalmia/microphthalmia with variable severity. The OTX2 homeobox gene plays a crucial role in craniofacial morphogenesis during early embryo development. We report for the first time a patient with a mandibular dysostosis caused by a 120 kb deletion including the entire coding sequence of OTX2, identified by array CGH. Read More

    [The research progress of Treacher Collins syndrome].
    Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2016 Feb;30(4):333-8
    Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Read More

    Goldenhar Syndrome and Pain-Related Temporomandibular Disorders. A Case Report.
    N Y State Dent J 2016 Apr;82(3):21-4
    Goldenhar syndrome (GS) is a development syndrome, characterized by incomplete development of the craniofacial region. The involvement is mainly unilateral; it varies from being mild to severe; and it can range from malocclusion and facial asymmetry to a more complex phenotype with complete absence of the mandibular ramus and temporomandibular joint. However, orthopedic symptoms of orofacial pain and dysfunction have not generally been considered as part of the symptom complex in GS cases. Read More

    Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
    Hum Mutat 2016 Sep 11;37(9):955-63. Epub 2016 Jul 11.
    School of Biological Sciences, University of Adelaide, SA, Australia.
    Ectrodactyly/split hand-foot malformation is genetically heterogeneous with more than 100 syndromic associations. Acinar dysplasia is a rare congenital lung lesion of unknown etiology, which is frequently lethal postnatally. To date, there have been no reports of combinations of these two phenotypes. Read More

    Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.
    Rev Assoc Med Bras (1992) 2016 May-Jun;62(3):202-6
    Universidade de São Paulo, FMUSP, Department of Pediatrics, São Paulo SP , Brazil, PhD in Medicine from FMUSP. Associate Professor, Department of Pediatrics, FMUSP, São Paulo, SP, Brazil.
    Objective: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil.

    Method: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center.

    Results: 41 patients were included in the study. Read More

    Sutureless Lamellar Corneoscleral Patch Graft With Fibrin Sealant for Limbal Dermoid Removal.
    J Pediatr Ophthalmol Strabismus 2016 Jun 3;53 Online:e22-5. Epub 2016 Jun 3.
    A 2-year-old boy with Goldenhar syndrome had a limbal dermoid removed and covered with a lamellar corneoscleral patch graft that was attached with fibrin glue and no sutures. The graft healed and attached well. A sutureless technique is beneficial due to decreased scarring and chance of infection. Read More

    AIRWAY MANAGEMENT WITH DIRECT LARYNGOSCOPY IN A CHILD WITH GOLDENHAR SYNDROME.
    Acta Clin Croat 2016 Mar;55 Suppl 1:90-3
    Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is a rare congenital condition characterized by facial, cranial, vertebral, ocular, auricular and cardiac abnormalities. This syndrome is associated with hemifacial microsomia due to inadequate growth of the mandible and vertebral anomaly of the cervical part of the spine. For anesthesiologists, airway management is of great interest because of facial and oral abnormalities such as mandibular hypoplasia and limitation of neck movement. Read More

    Syndromes with supernumerary teeth.
    Am J Med Genet A 2016 Oct 2;170(10):2611-6. Epub 2016 Jun 2.
    Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.
    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. Read More

    Prevention and management of hearing loss in syndromic craniosynostosis: A case series.
    Int J Pediatr Otorhinolaryngol 2016 Jun 11;85:95-8. Epub 2016 Apr 11.
    Department of Pediatrics, University of Torino, Torino, Italy.
    Objective: To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis.

    Methods: Eleven children with Apert syndrome (n=4), Saethre-Chotzen syndrome (n=3), Muenke syndrome (n=2), Crouzon syndrome (n=1) and Pfeiffer syndrome type 1 (n=1) were submitted to a complete audiologic evaluation including otoscopy, pure-tone audiometry, tympanometry and acoustic reflex testing, ABR, otoacustic emissions, temporal bone High Resolution CT (HRCT) scan. The main outcome measures were prevalence, type and severity of hearing loss, prevalence of chronic otitis media, correlation with the time of first surgical correction. Read More

    Genetic Syndromes Associated with Craniosynostosis.
    J Korean Neurosurg Soc 2016 May 10;59(3):187-91. Epub 2016 May 10.
    Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Read More

    Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
    Neuropediatrics 2016 Aug 23;47(4):273-7. Epub 2016 May 23.
    Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
    Distal arthrogryposis (DA) is a feature in genetically and clinically heterogeneous groups of disorders. Mostly myopathic and neurogenic defects have been described, but many patients remain without genetic diagnosis. We are elaborating on the clinical presentation of neonatal cases with DA who carry novel mutations in the nonselective sodium leak channel (NALCN). Read More

    30-year International Pediatric Craniofacial Surgery Partnership: Evolution from the "Third World" Forward.
    Plast Reconstr Surg Glob Open 2016 Apr 6;4(4):e671. Epub 2016 Apr 6.
    Division of Plastic Surgery, Children's Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, Pa.; and Division of Pediatric Surgery, Uniwersytecki Szpital Dzieciecy (University Children's Hospital) and Jagellonion University, Krakow, Poland.
    Background: Craniofacial diseases constitute an important component of the surgical disease burden in low- and middle-income countries. The consideration to introduce craniofacial surgery into such settings poses different questions, risks, and challenges compared with cleft or other forms of plastic surgery. We report the evolution, innovations, and challenges of a 30-year international craniofacial surgery partnership. Read More

    The Craniofacial and Upper Limb Management of Nager Syndrome.
    J Craniofac Surg 2016 Jun;27(4):932-7
    *Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, SA, Australia †Team for Congenital Hand and Upper Limb Differences ‡Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.
    Introduction: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. It is commonly mistaken for Treacher Collins syndrome, with which it shares the same craniofacial phenotype. However, patients with Treacher Collins do not exhibit hand anomalies, which are seen in patients with Nager syndrome. Read More

    Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction.
    J Adv Pharm Technol Res 2016 Apr-Jun;7(2):64-8
    Department of Restorative Sciences, Al Farabi Colleges, Riyadh, Saudi Arabia.
    Drug reactions are a group of reactionary lesions generally show their manifestations in the oral cavity. The drug reactions may vary from local rashes to well-developed swellings in the oral cavity especially involving the gingiva. Most of the drug reactions are asymptomatic and commonly triggered from the active metabolite of a drug used for a long time. Read More

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