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Shah Shaili S Division of Rheumatology, Allergy, and Immunology, Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, 27599, USA, - - 2014
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by immune dysregulation due to a defect in lymphocyte apoptosis. The clinical manifestations may be noted in multiple family members and include lymphadenopathy, splenomegaly, increased risk of lymphoma, and autoimmune disease, which typically involves hematopoietic cell lines manifesting as multilineage cytopenias. Since the disease ...
Wenger Tara L TL Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, - - 2014
Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and microcephaly. Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual ...
Klaassens Merel M 1] Department of Paediatrics, Maastricht University Medical Center, Maastricht, The Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands [3] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, - - 2014
De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay ...
Mirzaa Ghayda M GM Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research Seattle Children's Research Institute, Seattle, Washington; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, - - 2014
The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in KIF11, a ...
Bouchireb Karim - - 2014
Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late childhood or adulthood, and the symptoms are generally mild. We report here the first case of Gitelman syndrome presenting with the biological features of ...
Saitsu Hirotomo H Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, - - 2014
Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at ...
Escárcega Ricardo O RO Department of Cardiology, MedStar Washington Hospital Center, Washington, - - 2014
Nonatherosclerotic vascular diseases of the mesenteric and renal arteries are considered to occur less frequently than those caused by occlusive atherosclerotic disease. However, when present, they pose a significant diagnostic and therapeutic challenge. Such disorders include fibromuscular dysplasia, median arcuate ligament syndrome, the renal nutcracker syndrome, and some forms of ...
Prokudin Ivan I Eye and Developmental Genetics Research Group, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia; Eye Genetics Group, Children's Medical Research Institute, Westmead, Sydney, NSW, - - 2014
Several retinal dystrophies are associated with syndromic features including such conditions as Bardet-Biedl and Joubert syndromes. Cohen syndrome (CS) is an autosomal recessive disorder associated with multiple clinical manifestations including developmental delay, acquired microcephaly, myopia, pigmentary retinopathy, joint hypermobility, truncal obesity, friendly disposition and intermittent neutropenia. In young patients, diagnosis ...
McKinney Eoin F EF The Cambridge Institute for Medical Research and the Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK, - - 2014
The small-vessel vasculitides are a group of disorders characterised by variable patterns of small blood vessel inflammation producing a markedly heterogeneous clinical phenotype. While any vessel in any organ may be involved, distinct but often overlapping sets of clinical features have allowed the description of three subtypes associated with the ...
Weitz Nicole A NA Department of Pediatrics, Mount Sinai School of Medicine, New York, New - - 2014
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting ...
Karlinger Kinga K Department of Radiology and Oncotherapy, Semmelweis University, Budapest, - - 2014
We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; progressive neuro-cognitive deterioration and paranasal sinusitis. This syndrome shares several features with leukoencephalopathy with calcifications and cysts also called Labrune syndrome ...
Castori Marco M Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, - - 2014
The 3q27.3 microdeletion syndrome has been recently delineated in 7 subjects from 5 families sharing a 1.4 Mb smallest region of overlap. This condition appears recognizable by the association of Marfanoid habitus, mild but distinctive facial dysmorphism, intellectual disability, psychosis, and mood disorder. Here, we describe an additional 17-year-old man ...
Bunn Kieran J KJ Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New - - 2014
Robinow syndrome (RS) is a clinically and genetically heterogenous condition primarily characterized by short stature, mesomelia, genital hypoplasia, oral abnormalities, and a facial gestalt that includes hypertelorism, a short nose, and a broad mouth. The disorder exists in both a dominant and a more severe recessive form. Here two unrelated ...
Zampi Giordano G aU.O.C. Cardiologia ed Emodinamica Ospedale Belcolle bU.O.C. Diagnostica per Immagini, Ospedale Belcolle, Viterbo cDepartment of Cardiovascular Science, 'S. Camillo-Forlanini' Hospital, Rome, - - 2014
In this image focus, we describe the case an old woman with persistent unrepaired truncus arteriosus type III and Eisenmenger syndrome.
Al-Tawfiq Jaffar A JA Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia; Indiana University School of Medicine, Indianapolis, - - 2014
The emergence of Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and of the Middle East Syndrome Cornavirus (MERS-CoV) caused widespread fear and concern for their potential threat to global health security. There are similarities and differences in the epidemiology and clinical features between these two diseases. The origin of SARS-COV and ...
Ghosh Shrestha S Shenzhen Institute of Research and Innovation, The University of Hong Kong, Shenzhen, - - 2014
Premature aging disorders, like Werner syndrome, Bloom's syndrome, and Hutchinson-Gilford Progeria Syndrome (HGPS), have been the subjects of immense interest as they recapitulate many of the phenotypes observed in physiological aging. They, therefore, not only provide model systems to study normal aging processes but also give valuable insights into the ...
Spitzer A Robert AR Wayne State University School of Medicine, Clinical Professor of Neurology, Ministry Medical Group - CR, Neurology Department, 824 Illinois Avenue, Stevens Point, WI 54481, United States. Electronic address: - - 2014
Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present ...
Miner Jeffrey H JH Renal Division, Washington University School of Medicine, St Louis, Missouri, - - 2014
Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5(IV) resulting in renal failure. The collagen α3α4α5(IV) heterotrimer forms a network that is a major component of the kidney glomerular basement membrane (GBM) and basement membranes in the cochlea ...
Singh Ankur A Department of Pediatrics, Division of Genetics, MAMC Associated Lok Nayak Hospital, New Delhi, - - 2014
Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight ...
Meireles Sheila Itamara Ferreira do Couto SI Complexo Hospitalar Padre Bento de Guarulhos, Guarulhos, SP, - - 2014
Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. ...
Green Glenn E GE *University of Michigan Department of Otolaryngology-Head and Neck Surgery, Division of Pediatric Otolaryngology, †University of Michigan Medical School, ‡University of Michigan Department of Human Genetics, §University of Michigan Department of Radiology, and ‚ą•University of Michigan Departments of Pediatrics and Human Genetics, University of Michigan Health System, Ann Arbor, Michigan, - - 2014
To determine whether patients with semicircular canal dysplasia have mutations in CHD7. CHARGE syndrome is a nonrandom clustering of congenital anomalies, including ocular coloboma, heart defects, choanal atresia or stenosis, retarded growth and development, genital hypoplasia, and inner and outer ear anomalies including deafness. Semicircular canal dysplasia has been included ...
Yasumura Junko J Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences , Hiroshima , - - 2014
We report a 2-year-old girl with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) who is the youngest proband diagnosed in Japan. Recurrent fever had started at her 6 months of age, and she had the familial history of recurrent fever, suggesting underlying genetic disorder, in her father and grandfather. Careful ...
Döcker Dennis D Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, - - 2014
Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes. We performed trio-exome sequencing in ...
Rigante Donato D Institute of Pediatrics, Università Cattolica Sacro Cuore, Rome, - - 2014
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), formerly known as familial Hibernian fever, is the most common autosomal dominant autoinflammatory disease, resulting from mutations in the TNFRSF1A gene, encoding the 55-kD tumor necrosis factor receptor. The pathophysiologic mechanism of TRAPS remains ambiguous and only partially explained. The onset age of ...
Fujita Daishi D Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, - - 2014
Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue, and caused by mutations of the gene FBN1, which encodes fibrillin-1, a major component of the microfibrils of the extracellular matrix. Fibrillin-1 interacts with transforming growth factor β (TGFβ), and dysregulated TGFβ signaling has a major role in ...
Kolanczyk Mateusz M 1] Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Max Planck Institute for Molecular Genetics, Berlin, - - 2014
Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. A recent study of a Canadian cohort identified homozygous sequence variants in the KIAA0196 gene, which encodes the WASH complex subunit strumpellin, as ...
Fannemel Madeleine M Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address: - - 2014
2p15p16.1-deletion syndrome was first described in 2007 based on the clinical presentation of two patients. The syndrome is characterized by intellectual disability, autism spectrum disorders, microcephaly, dysmorphic facial features and a variety of congenital organ defects. The precise genotype-phenotype correlation in 2p15- deletion syndrome is not understood. However, greater insight ...
Pootrakul Llana L Division of Dermatology, Ohio State University Medical Center, 2012 Kenny Rd, Columbus, OH 43221, USA. - - 2014
Lymphangioma circumscriptum (LC) results from the development of abnormal lymphatic vasculature and is characterized by the presence of grouped vesicles filled with clear or colored fluid. Vulvar localization is uncommon. Abnormalities of the lymphatic system, such as lymphedema and cystic hygroma, are well-known features of genetic disorders such as Noonan ...
Poddighe Dimitri D Department of Pediatrics, Azienda Ospedaliera di Melegnano (MI). Electronic address: - - 2014
Juvenile dermatomyositis is an immune-mediated inflammatory multi-system disease involving mainly striated muscles and skin. Typical dermatological features are fundamental to establish the diagnosis, especially whenever the myopathy is very mild or absent, as it occurs in the form called as amyophatic juvenile dermatomyositis. Sometimes, systemic rheumathic diseases can develop a ...
Dhamija Radhika R Department of Medical Genetics, Mayo Clinic, Rochester, - - 2014
Hartsfield syndrome has been recently reported to be associated with mutations in FGFR1 however, to this date; no familial cases have been reported. In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. The proband presented at our institution at ...
Sood Vikrant V Vikrant Sood, Rajeev Khanna, Seema Alam, Dinesh Rawat, Shorav Bhatnagar, Archana Rastogi, Departments of Pediatric Hepatology, Radiology and Pathology, Institute of Liver and Biliary Sciences, New Delhi 110070, - - 2014
An eleven-year-old clinically dysmorphic and developmentally retarded male child presenting with complaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic portocaval shunt (Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ...
Bedeschi Maria Francesca - - 2014
The early identification of hereditary syndromes is essential for planning interventions to reduce the risk of complications. Unfortunately, clinical phenotypes in the first years of life and in mild cases are often poorly characterized. Moreover, some disease symptoms are common for several genetic conditions. In this report, a child was ...
Di Donato N N Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, - - 2014
We report on two adult patients, who both presented with overgrowth and one of them additionally with macrocephaly while carrying an 1p36 microdeletion of about 2.1 Mb. They are full brothers born to unaffected parents. Although both brothers attended special schools, they lived independently without a legal guardian and were ...
Wee Jamie S JS Department of Dermatology, St George's Hospital, London, - - 2014
IMPORTANCE Proteus syndrome is an extremely rare disorder of mosaic postnatal overgrowth affecting multiple tissues including bone, soft tissue, and skin. It typically manifests in early childhood with asymmetric and progressive skeletal overgrowth that leads to severe distortion of the skeleton and disability. The genetic basis has recently been identified ...
Allen Richard P RP Department of Neurology, Johns Hopkins University, Baltimore, MD, - - 2014
In 2003, following a workshop at the National Institutes of Health, the International Restless Legs Syndrome Study Group (IRLSSG) developed updated diagnostic criteria for restless legs syndrome/Willis-Ekbom disease (RLS/WED). These criteria were integral to major advances in research, notably in epidemiology, biology, and treatment of RLS/WED. However, extensive review of ...
Poretti Andrea - - 2014
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. The etiological spectrum of CH is wide and includes both primary (malformative) and secondary (disruptive) conditions. Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor ...
Tacik Pawel P Department of Neurology, Mayo Clinic Florida, Jacksonville, United - - 2014
Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation. Eight mutations in 16 families have been reported: p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C located in exon 2 of the dynactin 1 (DCTN1) gene on chromosome 2p13.1. Genealogical, clinical, genetic, and functional studies were ...
Bertolaccini Maria Laura ML Graham Hughes Lupus Research Laboratory, Lupus Research Unit, The Rayne Institute, King's College London School of Medicine, London, UK. Electronic address: - - 2014
Current classification criteria for definite Antiphospholipid Syndrome (APS) require the use of three laboratory assays to detect antiphospholipid antibodies (aCL, anti-β2GPI and LA) in the presence of at least one of the two major clinical manifestations (i.e. thrombosis or pregnancy morbidity) of the syndrome. However, several other autoantibodies shown to ...
Cobben Jan M JM Department of Pediatrics, AMC University Hospital Amsterdam, the Netherlands; Department of Clinical Genetics, AMC University Hospital Amsterdam, the Netherlands. Electronic address: - - 2014
Pectus excavatum and carinatum are the most common morphological chest wall abnormalities. For both pectus excavatum and carinatum the pathogenesis is largely unknown although various hypotheses exist. Usually, exclusion of an underlying syndromal or connective tissue disorder is the reason for referral for genetic evaluation. A detailed anamnesis and family ...
Kandasamy Subapriya S Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, UP, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. - - 2014
Pediatricians awareness about malformation syndromes can help in their timely diagnosis. Williams syndrome is a microdeletion syndrome associated with characteristic facial features and behavioral phenotype. Diagnosis can be confirmed by fluorescence-in-situ hybridization or multiplex ligation probe amplification. Correct diagnosis can help in diagnosing hypercalcemia and cardiac defects, and providing genetic ...
Oshima Junko J University of Washington, Seattle, - - 2014
There are no known human genetic syndromes that faithfully accelerate all of the common phenotypes associated with aging, but there are several striking disorders with multiple features ("segmental progeroid syndromes"). The suffix -"oid" is conceptually important, as it leaves open the possibility that the underlying mechanisms may differ to some ...
Bárcena Clea - - 2014
SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a ...
Friedman Deborah I DI Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, MC-9036, Dallas, TX 75390-9036, USA; Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9036, USA. Electronic address: - - 2014
The pseudotumor cerebri syndrome may be idiopathic or arise from a secondary cause. The major morbidity is visual loss, which may be severe and permanent. This article reviews the diagnosis, evaluation, and management of patients with pseudotumor cerebri syndrome in adults and children.
Garner Elizabeth E Myriad Genetic Laboratories, Inc, Salt Lake City, - - 2014
The purpose of this study was to characterize family history profiles of unaffected individuals diagnosed with Lynch syndrome in the absence of a known family mutation. We queried our laboratory database for unaffected patients who were positive for Lynch syndrome genetic testing between September 2010 and May 2013. All individuals ...
Beckmann Erik E Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, Hannover, - - 2014
Loeys-Dietz syndrome is a recently described genetic disorder with aortic and vascular involvement. Here, we present the medical history and surgical management of a patient with Loeys-Dietz syndrome type I caused by a mutation in M253I in the TGFBR1 gene who received complete aortic replacement and various peripheral vascular surgeries ...
Ponti Giovanni G Department of Diagnostic & Clinical Medicine & Public Health, University of Modena & Reggio Emilia, Modena, - - 2014
Gorlin syndrome is an autosomal dominant disorder linked to PTCH1 mutation, identified by a collection of clinical and radiologic signs. We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome including multiple basal cell carcinomas, keratocystic odontogenic tumors, atypical skeletal ...
Madias John E JE Icahn School of Medicine at Mount Sinai, New York, NY, United States; Division of Cardiology, Elmhurst Hospital Center, Elmhurst, NY, United States. Electronic address: - - 2014
Diagnosis of Takotsubo syndrome (TTS), the reversible, acute heart failure pathological entity, precipitated by stress, is based on the fulfillment of sets of criteria, developed by careful characterization of the precipitants, symptoms, results of imaging testing, clinical course, and follow-up of many patients presented with this affliction. As understanding of ...
Santoro Claudia - - 2014
Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-Noonan syndrome. The follow-up of the proband, the clinical evaluation of his father ...
Setó-Salvia Núria N UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, - - 2014
Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most common birth defects but we still have difficulty explaining why the majority of cases occur. In general, sporadic cases with no family history may be more related to environmental risks, while the presence of one ...
Velasco Guillaume - - 2014
Immunodeficiency Centromeric Instability and Facial anomalies (ICF) is a rare autosomal recessive disease characterized by reduction in serum immunoglobulins with severe recurrent infections, facial dysmorphism, and more variable symptoms including mental retardation. ICF is directly related to a genomic methylation defect that mainly affects juxtacentromeric heterochromatin regions of certain chromosomes, ...
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