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    1532 results match your criteria Clinical Dysmorphology [Journal]

    1 OF 31

    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

    SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.
    Clin Dysmorphol 2018 Jan 8. Epub 2018 Jan 8.
    Genetic Counselling and Diagnostics, Genetikum Stuttgart, Stuttgart.
    Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Read More

    Clinical and molecular characterization of the first familial report of 1p32 microdeletion.
    Clin Dysmorphol 2017 Dec 13. Epub 2017 Dec 13.
    Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
    Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. Read More

    A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.
    Clin Dysmorphol 2018 Jan;27(1):9-11
    aGenomic Medicine ProgrambDr John T. Macdonald Foundation Department of Human GeneticscDivision of Pediatric Hematology and Oncology, Department of PediatricsdJohn P. Hussman Institute for Human GenomicseDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida, USA.

    Sinus pericranii in achondroplasia: a case report and review of the literature.
    Clin Dysmorphol 2017 Oct;26(4):252-255
    aDepartment of Medical and Molecular Genetics bDivision of Pediatric Neurosurgery, Goodman Campbell Brain and Spine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
    In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. Read More

    A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.
    Clin Dysmorphol 2017 Oct;26(4):243-246
    aDevelopmental Endocrinology Research Group, Child Health, School of Medicine, University of Glasgow, Royal Hospital for Children bWest of Scotland Genetics Service, Laboratory Medicine Building, Queen Elizabeth Hospitals, Glasgow cSheffield Diagnostics Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.

    Marfanoid habitus is a nonspecific feature of Perrault syndrome.
    Clin Dysmorphol 2017 Oct;26(4):200-204
    aCenter for Human Genomics, Faculty of Medicine and Pharmacy bDepartment of Endocrinology, Diabetology and Nutrition, Avicenna Hospital, Mohammed V University cDepartment of Medical Genetics, National Institute of Health, Rabat, Morocco dDivision of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester eManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
    The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Read More

    First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.
    Clin Dysmorphol 2017 Oct;26(4):231-234
    aDepartment of Medical Genetics, CHU Bordeaux bCaribbean Reference Center for rare neuromuscular and neurologic diseases (CeRCa), CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex cMultidisciplinary Center for Prenatal Diagnosis (CPDP) - Mother and Children's Hospital - CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex dINSERM U1211, University of Bordeaux, 33076 Bordeaux, France.

    RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature.
    Clin Dysmorphol 2017 Oct;26(4):195-199
    aDepartment of Pediatrics, Division of Neonatology bDepartment of Pediatrics, Division of Cardiology cDepartment of Pediatrics, Division of Genetics, Louisiana State University Health Sciences Center and Children's Hospital of New Orleans, New Orleans, Louisiana, USA.
    Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. Read More

    3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects.
    Clin Dysmorphol 2017 Oct;26(4):221-223
    Departments of aPediatrics bPathology and Laboratory Medicine cNeurosurgery dDivision of Neonatal-Perinatal Medicine, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

    Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.
    Clin Dysmorphol 2017 Oct;26(4):209-216
    aDivision of Genetics, CIBO-IMSS, and Doctorate in Human Genetics, CUCS-UdeG bDivision of Immunology, CIBO-IMSS, Guadalajara cDepartment of Genetics, Institute of Biological Sciences, Universidad Autonomous of Guadalajara dDepartment of Medical Sciences, University Center of the Coast (CUCOSTA), University of Guadalajara, Puerto Vallarta, Jal. eDepartment of Biological Chemistry, Institute of Biomedical Sciences, University Autonomous of Juarez City, Juarez City, Chihuahua, Mexico fDepartment of Basic Psychology, University Center of Health Sciences (CUCS), University of Guadalajara, Guadalajara, Jal. Mexico.
    In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25. Read More

    Familial unilateral carpal bone dysplasia in mother and daughter.
    Clin Dysmorphol 2017 Jul;26(3):167-169
    Departments of aPediatrics and Child HealthbOrthopedic SurgerycCenter for Institutional Research and Medical Education, Nihon University School of MedicinedDepartment of Radiology, National Center for Child Health and DevelopmenteDepartment of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

    Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum.
    Clin Dysmorphol 2017 Oct;26(4):238-242
    aWest of Scotland Regional Genetics Service, Laboratory Medicine Building bDepartment of Neurosurgery, Queen Elizabeth University Hospital cDepartment of Paediatric Radiology, Royal Hospital for Children, Glasgow, UK.

    Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.
    Clin Dysmorphol 2017 Oct;26(4):228-230
    aYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds bClinical Genetics Service, City Hospital Campus cDepartment of Cytogenetics, Nottingham University Hospitals NHS Trust, Nottingham dDepartment of Paediatric Psychology eHighly Specialised Severe, Complex and Atypical OI Service fSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust gAcademic Unit of Child Health, University of Sheffield, Sheffield, UK.

    Pierpont syndrome: report of a new patient.
    Clin Dysmorphol 2017 Oct;26(4):205-208
    aInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden bDepartment of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel cMitteldeutscher Praxisverbund Humangenetik, Praxis Erfurt, Erfurt, Germany.
    Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p. Read More

    Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy.
    Clin Dysmorphol 2017 Oct;26(4):224-227
    aDepartment of Pediatrics, Graduate School of Medicine, University of Tokyo bDepartment of Pediatrics, Teikyo University School of Medicine, Tokyo cDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto dDivision of Medial Genetics, Kanagawa Children's Medical Center, Kanagawa, Japan.

    Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
    Clin Dysmorphol 2017 Jul;26(3):135-141
    aPediatric Research Institute bDepartment of Respiratory Interventional Radiology, Qilu Children's Hospital of Shandong University, Jinan, Shandong, China.
    Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. Read More

    Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.
    Clin Dysmorphol 2017 Jul;26(3):148-153
    aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre bDepartment of Clinical Genetics c3D Craniofacial Image Research Laboratory, School of Dentistry, Copenhagen University Hospital Rigshospitalet dDepartment of Radiology, Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital, University of Copenhagen, Copenhagen, Denmark eDepartment of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences.

    A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.
    Clin Dysmorphol 2017 Jul;26(3):142-147
    aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey bCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
    Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Read More

    3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature.
    Clin Dysmorphol 2017 Jul;26(3):154-156
    aDepartment of Clinical Genetics, Yorkshire Regional Genetics Service, Chapel Allerton Hospital bDepartment of Cytogenetics, Leeds Genetics Laboratories, Yorkshire Regional Genetics Service, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds cDepartment of Psychiatry, The Horizon Centre, Fieldhead Hospital, Ouchthorpe Lane, Wakefield, UK.

    The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
    Clin Dysmorphol 2017 Oct;26(4):247-251
    aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark bManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre cSchool of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester dWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

    De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.
    Clin Dysmorphol 2017 Jul;26(3):187-189
    aMedical Genetics Laboratory, Victor Babes National Institute of Pathology bDepartment of Pediatric Neurology cDepartment of Child and Adolescent Psychiatry, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania dInstitute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.

    Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.
    Clin Dysmorphol 2017 Apr;26(2):73-77
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
    The methyl CpG-binding protein 2 duplication syndrome (OMIM #300260) is characterized by hypotonia, developmental delay, spasticity, seizures, and recurrent infections. It is fully penetrant in males and the females can have varied manifestations because of skewed X-inactivation. The size of the duplication can range from 0. Read More

    Severe intellectual disability in a patient with Burn-McKeown syndrome.
    Clin Dysmorphol 2017 Jul;26(3):193-194
    aManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre bDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK cThe Folkhaelsan Department of Medical Genetics dChildren's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

    Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.
    Clin Dysmorphol 2017 Apr;26(2):78-82
    aManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre bDepartment of Burns and Plastic Surgery, Royal Manchester Children's Hospital, Central Manchester NHS Foundation Trust cDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester dDepartment of Paediatrics, Royal Preston Hospital, East Lancashire Teaching Hospitals Trust, Preston, UK.
    The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. Read More

    Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
    Clin Dysmorphol 2017 Apr;26(2):61-65
    aDepartment of Clinical Genetics, Makarios Medical Centre, The Cyprus Institute of Neurology and Genetics bDivision of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics cDepartment of Paediatrics, Medical School, St George's University London - University of Nicosia, Nicosia, Cyprus.
    Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation. Read More

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