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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.
Cheung Evelyn Ning Man EN Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, - - 2014
22q11.2 deletion syndrome (22q11.2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcemia. We investigated hypocalcemia in a well characterized sample of 138 adults with 22q11.2DS (65 M, 73 F; mean ...
Dash Sambit S 1Department of Biochemistry, Melaka Manipal Medical College (Manipal Campus), Manipal - - 2014
GBS is an autoimmune polyneuropathy which presents with acute onset and rapid progression of flaccid, hyporeflexi quadriparesis. Both sensory and autonomic nerve involvement is seen. Guillain Barre Syndrome has various subtypes that vary in thei pathophysiology. The pathogenesis involves an immune response triggered by a preceding event which may be ...
Wheeler Patricia G PG Divison of Genetics, Nemours Children's Clinic, Orlando, - - 2014
Haploinsufficiency of HDAC4 gene has been reported to result in brachydactyly-"mental retardation" syndrome (BDMR), a condition with significant intellectual impairment, brachydactyly type E, and typical facial features. Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence. This is in ...
Singh Ankur A Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, - - 2014
Muenke syndrome is a nonsyndromic coronal craniosynostosis, characterised by clinical and radiological variability, with occurrence of both familial and sporadic cases. Pro250Arg (P250R) is a pathogenic mutation, causing this highly clinically heterogeneous syndrome reported worldwide irrespective of race and ethnicity. The authors describe three Indian cases in two different families ...
Schulz Yvonne Y Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, - - 2014
CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with developmental delay, short stature, prominent digit pads and visceral abnormalities. Mutations in the KMT2D gene, which encodes a H3K4 ...
Milani Donatella - - 2014
Although individual occurrence is rare, syndromic obesity with mental retardation has been reported in conjunction with 140 different diseases. The patient was born at term after a pregnancy complicated by threatened miscarriage. A diagnosis of Bardet-Biedl syndrome (BBS; OMIM #209900) was made in another hospital when she was 8 years ...
Holmberg Christer C Children's Hospital, University of Helsinki and Helsinki University Central Hospital, PO Box 281, Helsinki, 00290, Finland, - - 2014
Renal transplantation (RTx) is the only curative treatment for most cases of congenital and infantile nephrotic syndrome (NS) caused by genetic defects in glomerular podocyte proteins. The outcome of RTx in these children is usually excellent, with no recurrence of nephrotic syndrome. A subgroup of patients with the Finnish type ...
Salo-Mullen Erin E EE Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, Box 295, New York, NY, 10065, - - 2014
Cowden syndrome is an autosomal dominant condition caused by pathogenic mutations in the phosphatase and tensin homolog (PTEN) gene. Only a small proportion of identified pathogenic mutations have been reported to be large deletions and rearrangements. We report on a female patient with a previous history of breast ductal carcinoma ...
Mackinnon Sarah S Department of Ophthalmology, Boston Children's Hospital, Boston, - - 2014
To improve diagnostic assessment in Moebius syndrome by (1) creating more selective diagnostic subgroups and (2) conducting genetic evaluation in a large patient cohort. Prospective, observational study. Attendees of 3 consecutive Moebius syndrome conferences held in the United States, with a prior diagnosis of Moebius syndrome, were invited to participate. ...
Ye Xin Cynthia XC Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, - - 2014
Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of ...
Saritha M M Department of Dermatology, Jawaharlal Nehru Institute of Post Graduate Medical Education and Research, Puducherry, - - 2014
Epidermal nevus syndromes are rare conditions, characterized by different types of keratinocytic or organoid epidermal nevi in association with ocular, neurological, and skeletal manifestations. We present a case of late onset epidermal nevus with hypertrichosis and hemihypertrophy of face. Genetic analysis did not reveal presence of FGFR3 or PIK3CA mutations. ...
Synofzik Matthis - - 2014
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been described, knowledge about the relation between these syndromes, the phenotypic spectrum in patients ...
Niesten Marlien E F ME Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center, Utrecht, the Netherlands2Braincenter Rudolf Magnus, Utrecht, the Netherlands3Department of Otology and Laryngology, Harvard Medical School, Boston, - - 2014
IMPORTANCE The etiology of superior canal dehiscence (SCD) involving the arcuate eminence is not completely understood, but genetic factors may play a role. One hypothesis is that patients are born with a defect of the superior canal, and an acute event (such as head trauma) or progressive loss of bone ...
Lee H Hc HH Department of Pathology, Princess Margaret Hospital, Laichikok, Hong - - 2014
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is an autosomal recessive disorder caused by a defect in ornithine translocase. This condition leads to variable clinical presentations, including episodic hyperammonaemia, hepatic derangement, and chronic neurological manifestations. Fewer than 100 affected patients have been reported worldwide. Here we report the first two cases in Hong Kong Chinese, ...
Onuki Takuya T Department of Thoracic Surgery, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan. Electronic address: - - 2014
Birt-Hogg-Dubé (BHD) syndrome is an inherited disease characterized by recurrent pneumothorax. We report some unusual clinicopathologic features of the lung in a Japanese family with this syndrome presenting with recurrent pneumothorax. Radiologic imaging did not show detectable lesions; however, at video-assisted thoracic surgery (VATS), multiple diffusely distributed microcysts were visible ...
Piras Roberta R Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy; Department of Public Health, and, Clinical, and, Molecular Medicine, University of Cagliari, Cagliari, - - 2014
Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia associated with death in most cases in the first years of life. To date 24 ...
Dispenzieri Angela A Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, - - 2014
Disease overview: POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, ...
Li Guangxin - - 2014
Marfan syndrome is a common autosomal dominant hereditary connective tissue disorder. There is no cure for Marfan syndrome currently. Next-generation sequencing (NGS) technology is efficient to identify genetic lesions at the exome level. Here we carried out exome sequencing of two Marfan syndrome patients. Further Sanger sequencing validation in other ...
Migliavacca Michele P MP Clinical Genetics, Department of Morphology and Genetics, UNIFESP, São Paulo, - - 2014
Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at ...
Huang Xiaomin X Heart Center, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Dongfang Road 1678, Shanghai, 200127, - - 2014
Tetralogy of Fallot (TOF) and double outlet right ventricle (DORV) are two common subtypes of conotruncal defects. Recent reports have implicated mutations in the zinc finger protein, FOG family member 2 (ZFPM2/FOG2) as a cause of TOF/DORV, but no current literature focuses on the relationship between ZFPM2/FOG2 gene and non-syndromic ...
Thors Valtyr S VS Departments of General - - 2014
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin D syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations. This autoinflammatory disease is caused by mutations encoding the mevalonate kinase (MVK) gene ...
Giordano Paola - - 2014
Kabuki syndrome (also called Niikawa-Kuroki syndrome) is a rare genetic disease described for the first time in Japan, characterised by anomalies in multiple organ systems and often associated with autoimmune disorders and impaired immune response. We herein report the clinical history, the therapeutic approach and the outcome of two children ...
Francis S M SM University of Minnesota, Department of Psychiatry, Minneapolis, - - 2014
Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptide hormones found in many mammalian species, including humans. Dysregulation of these neuropeptides have been associated with changes in behavior, especially social interactions. We review how the OT system has been investigated in Autism Spectrum Disorder (ASD), Prader-Willi Syndrome (PWS), ...
Philipps Guillermo G Department of Pediatric Neurology, Golisano Children's Hospital of Southwest Florida, Fort - - 2014
IMPORTANCE Purkinje cell cytoplasmic antibody type 1 (PCA-1)-IgG (or anti-Yo) is characteristically detected in women with gynecological or breast adenocarcinoma. We describe 2 unique scenarios occurring in 1 patient: PCA-1 paraneoplastic autoimmunity in a child, and a paraneoplastic neurological disorder in the context of Down syndrome. OBSERVATIONS A child with ...
Begić Fatima F Department of Pediatrics, General Hospital "Dr. Irfan Ljubijankić", Bihać, Bosnia and - - 2014
This is the first reported family with Leopard syndrome (LS) from Bosnia and Herzegovina. We report five cases of LS from two generations of the same family. In the present series of patients from one family, all patients carry the same recurrent mutation Y279C in the PTPN11 gene, exhibiting different ...
Cirillo Emilia - - 2014
22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying ...
Seven Mehmet - - 2014
Dyggve-Melchior-Clausen syndrome (DMC) (MIM #223800) is a rare autosomal-recessive type of skeletal dysplasia accompanied by variable degrees of intellectual disability (ID). It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies. The radiographic appearance of generalized platyspondyly with double-humped end plates and the lace-like ...
Bassani Luigi L Department of Neurosurgery, University of Utah School of Medicine, - - 2014
Spontaneous intracranial hypotension is an uncommon clinical entity. Heritable connective tissue disorders (HCTD), such as Marfan syndrome, are frequently implicated as an underlying cause, due to dural structural weaknesses that predispose patients to spontaneous cerebrospinal fluid (CSF) leak. Due to the high prevalence of multi-system disease in HCTD, diagnosis and ...
Kim Yeonkyung Y Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, - - 2014
CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear ...
Al-Shibli Amar A GENDIA (GENetic DIAgnostic Network), Antwerp, - - 2014
Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Bartter syndrome and Gitelman syndrome are autosomal recessive salt-losing tubulopathies ...
Hodgson Kate Alison KA Royal Children's Hospital, Parkville, Victoria, - - 2014
We present the case of an 11-month-old girl who presented with recurrent febrile episodes and was found to have tumour necrosis factor receptor-associated periodic syndrome due to a novel mutation in the TNFRSF1A gene. The concept of autoinflammatory diseases is discussed and the management of this condition reviewed.
Al Fahaad Hamad H Department of Dermatology, College of Medicine, Najran University, Najran, Saudi - - 2014
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital multisystem disorder affecting certain tissues of ectodermal origin such as epidermis, cochlea, and cornea, leading mainly to palmoplantar hyperkeratosis, ichthyosiform scaling, deafness, and blindness. The author reports for the first time in the Middle East three family members suffering from KID syndrome in ...
Myers Kasiani C KC Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, - - 2013
To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis. We reviewed the North American Shwachman-Diamond Syndrome Registry. Genetic reports of biallelic Shwachman-Bodian-Diamond syndrome mutations confirming the diagnosis of SDS were available for 37 patients. Neutropenia was the most common hematologic abnormality ...
Hibaoui Youssef Y Stem Cell Research Laboratory Department of Obstetrics and Gynecology, Geneva University Hospitals, Geneva, - - 2013
Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21 in order to eliminate the effects of the variability of ...
Black V V Davies Veterinary Specialists, Higham - - 2013
To characterise the phenotype of Border terriers suspected to be affected by canine epileptoid cramping syndrome and to identify possible contributing factors. Owners of Border terriers with suspected canine epileptoid cramping syndrome were invited to complete an online questionnaire. The results of these responses were collated and analysed. Twenty-nine Border ...
Gou Chenyu C Fetal Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, PR - - 2013
Discordance for Turner syndrome in monozygotic (MZ) twins, which is known as heterokaryotypia, is very rare in MZ pregnancies. The combined effect of idiochromosome loss due to an anaphase lag and the relocation of discordant blastomeres may trigger the twinning procedure and discordance of Turner syndrome. We present 2 cases ...
Karavitakis Emmanouil E Neonatal Special Care Unit, General Hospital of Chania, Crete, - - 2013
Constitutional microdeletions affecting 3q13.2q13.31 are rare and attempts for genotype-phenotype correlations have only recently been made in a cohort of 28 patients. The major phenotypic features of this rare syndrome are hypotonia, developmental delay, and facial anomalies. In this study, we report on a male infant with a novel reciprocal ...
Simenson Kristi K Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Medical Faculty, University of Tartu, Tartu, - - 2013
Phelan-McDermid syndrome, also known as the 22q13 deletion syndrome, is a chromosomal microdeletion syndrome characterized by neonatal hypotonia, normal growth, profound developmental delay, absent or delayed speech, and minor dysmorphic features. Almost all of the 22q13 deletions published so far have been described as terminal. It is believed that the ...
Mancuso Abigail A Division of Perinatal Care, Department of Obstetrics and Gynecology, University of Iowa Hospitals and Clinics, Iowa City, - - 2013
Transient abnormal myelopoiesis (TAM) is a relatively common finding in children with Down syndrome but has also been diagnosed prenatally, most often presenting with fetal hepatosplenomegaly. We report a case of TAM with hepatosplenomegaly found on ultrasound and associated with an increased amniotic fluid ∆ OD 450 value. TAM is ...
Saito Yoshiaki Y Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. Electronic address: - - 2013
Aim: To describe the characteristics of hypophosphatemia in severely disabled individuals with neurological disorders and to identify its causative factors. Method: We retrospectively reviewed clinical data from 82 individuals with motor skills classified as sitting, rollover or bedridden. Age, gender and body mass index were compared in individuals with (n=19) ...
Ochiai Hiroshi H Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734-8553, - - 2013
Cancer-prone syndrome of premature chromatid separation with mosaic variegated aneuploidy [PCS (MVA) syndrome] is a rare autosomal recessive disorder characterized by constitutional aneuploidy and a high risk of childhood cancer. We previously reported monoallelic mutations in the BUB1B gene (encoding BUBR1) in seven Japanese families with the syndrome. No second ...
Peiretti Valentina V University of Torino, Regina Margherita Children Hospital, Department of Pediatrics, Torino, Italy. E-mail: - - 2013
Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphic features as well as delayed neuropsychomotor development can also be present. These patients have also a higher risk of ...
Takenouchi Toshiki - - 2013
Recent advances in genetic diagnostic technologies have made the classic disease nosology highly complicated. This situation is exemplified by rasopathies, among which neurofibromatosis type 1 and Noonan syndrome represent prototypic entities. The former condition is characterized by multiple café au lait spots and neurofibromas, while the latter is characterized by ...
Magoulas Pilar L - - 2013
Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to ...
Anderlid Britt-Marie - - 2013
Genetic analyses were performed in a male patient with suspected Prader-Willi syndrome who presented with hypogonadism, excessive eating, central obesity, small hands and feet and cognition within the low normal range. However, he had no neonatal hypotonia or feeding problems during infancy. Chromosome analysis showed a normal male karyotype. Further ...
Purpura Giulia - - 2013
Children with Down syndrome show hypotonia and ligamentous laxity that are associated with motor development delay. Neurologic disorders are common in children with Down syndrome; however, in literature the presence of periodic movement disorders has not yet been described. We report 2 different types of periodic movement disorders in 2 ...
Hegde Madhuri - - 2013
Lynch syndrome, familial adenomatous polyposis, and Mut Y homolog (MYH)-associated polyposis are three major known types of inherited colorectal cancer, which accounts for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 and ...
Al-Qattan M M - - 2013
Isolated familial non-syndromic brachydactyly is interesting from the embryological point of view because the phenotypes of isolated brachydactyly are frequently overlapping, yet they are caused by different gene mutations and the ring finger is frequently relatively preserved. We review the embryology of isolated familial brachydactyly with special attention to these ...
Snider Scott - - 2013
Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible urge to move. RLS has a general population incidence of between 5% and 10% and a familial rate as high as 77%. This case study examines the pathophysiology, diagnosis, and treatment along with the presentation of RLS ...
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