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Hester Christian C CC Department of Ophthalmology, California Pacific Medical Center, University of California, San Francisco, California, - - 2013
A 70-year-old woman sought treatment for confluent flesh-colored papules on all 4 eyelids. Sixteen family members were reported to have similar lesions involving the face and scalp. Initial histopathologic examination of the lesions was interpreted as basal cell carcinoma, but on further review, the lesions were deemed to be consistent ...
Pasternack S M - - 2012
The oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder characterized by the triad of congenital cataracts, mental retardation and a renal proximal tubulopathy. Although severity of phenotype might vary, congenital cataracts are part of the definition of this rare disorder.We report a 13-year-old patient with the typical cerebrorenal phenotype ...
Scholl Ute I - - 2012
BACKGROUND: Mutations in the K(+) channel KCNJ10 (Kir4.1) cause an autosomal recessive syndrome featuring seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME). Kir4.1 localizes to the basolateral membrane of the renal distal convoluted tubule, and its loss of function mimics renal features of Gitelman syndrome, with hypokalemic alkalosis, ...
Lankford Jeremy - - 2012
Acute cerebellitis in children is an inflammatory syndrome with symptoms of cerebellar dysfunction. We describe a 3-year-old boy with acute cerebellitis who had cerebellar tonsillar herniation, hydrocephalus, and transient tonic bilateral upward gaze deviation. Although no etiology for his acute cerebellitis was determined, he fully recovered with high-dose corticosteroids, intravenous ...
Chen Kaitian - - 2012
OBJECTIVE: Pendred syndrome is one of the most common hereditary determined diseases in patients with syndromic sensorineural hearing impairment. Mutations in the SLC26A4 gene are a major cause of Pendred syndrome. However, Pendred syndrome is quite rare in China. This investigation aims to identify genetic cause of a Chinese family ...
Kim Hyun-Ah - - 2012
Acute vestibular syndrome (AVS) is characterized by acute onset of spontaneous prolonged vertigo (lasting days), spontaneous nystagmus, postural instability, and autonomic symptoms. Peripheral AVS commonly presents as vestibular neuritis, but may also include other disorders such as Meniere's disease. Vertigo in central AVS due to vertebrobasilar ischemic stroke is usually ...
Coutton Charles - - 2012
Many deletions of chromosome 17p13.1 have been described, but very few 17p13.1 duplications have been reported yet. Here, we describe the genotype and phenotype of a boy with a duplication of this region. The main clinical features are mild intellectual deficiency, growth retardation, and a typical Silver-Russell syndrome (SRS) appearance ...
Afshar Maryam - - 2012
Posterior fossa syndrome (PFS), also known as cerebellar affective syndrome, is characterized by emotional lability and decreased speech production following injury or surgery to the cerebellum. Rarely, oculomotor dysfunction has been described in association with PFS. Here, we report a case of complete ocular paresis associated with PFS in an ...
Yagnik Garima G Section of Genetics, Department of Pediatrics, University of California-Davis, Sacramento, CA 95817, - - 2012
Craniosynostosis is the early fusion of one or more sutures of the infant skull and is a common defect occurring in approximately 1 of every 2,500 live births. Nonsyndromic craniosynostosis (NSC) accounts for approximately 80% of all cases and is thought to have strong genetic determinants that are yet to ...
Thomas Sophie - - 2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations ...
Gong S-G - - 2012
This study aimed to review and discuss the utility of the Fgfr2 ( W290R ) mouse mutant as a model of human Crouzon syndrome. A review of current and past scientific literature on Fibroblast Growth Factor Receptor-2 (FGFR2) protein domain structure, FGFR mutations associated with human Crouzon syndrome, and phenotypic ...
Holmes Greg - - 2012
Apert syndrome is one of the more clinically distinct craniosynostosis syndromes in man. It is caused by gain-of-function mutations in FGFR2, over 98% of which are the two amino acid substitution mutations S252W and P253R. FGFR2 is widely expressed throughout development, so that many tissues are adversely affected in Apert ...
Nah Hyun-Duck - - 2012
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. Muenke syndrome is characterized by coronal suture synostosis, midface hypoplasia, subtle limb anomalies, and hearing loss. However, the spectrum of clinical presentation continues to expand. To better understand the pathophysiology of ...
Wang Wei W Department of Biology, Indiana University, Bloomington, - - 2012
Most common genetic factors known to cause intellectual disability are Down syndrome and Fragile X syndrome. However, the underlying cellular and molecular mechanisms of intellectual disability remain unclear. Recently, dendritic spine dysmorphogenesis and impaired local protein synthesis are posited to contribute to the cellular mechanisms of intellectual disability. Here, we ...
Kim S E - - 2012
Irritable bowel syndrome and other gastrointestinal (GI) and non-GI disorders such as functional dyspepsia, fibromyalgia, temporomandibular joint disorder, interstitial cystitis/painful bladder syndrome, and chronic fatigue syndrome are known as functional pain syndromes. They commonly coexist within the same individual. The pathophysiologic mechanisms of these disorders are not well understood, but ...
Rocha Ruben - - 2012
We describe a girl with Alagille syndrome and a moyamoya angiographic pattern on magnetic resonance angiography. She was referred for genetic consultation because of posterior embryotoxon and peripheral pulmonary stenosis. Her facial appearance was typical, but she had no cholestasis or vertebral involvement. A heterozygous duplication of one nucleotide (a c.715dupA ...
Ekstrand Jeffrey J - - 2012
Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. Neurologic findings are universal in children with this disorder, and often precede renal abnormalities. However, relatively few descriptions of associated neurologic features are available. We describe two pairs ...
Albanese Alberto - - 2012
This review considers the recent literature pertaining to the clinical features, genetics, neuropathology and treatment of dystonia syndromes. The term dystonia indicates at the same time a clinical phenotype and a collection of neurological syndromes mainly of genetic origin. The physical signs contributing to the phenomenology of dystonia have been ...
Ponti Giovanni - - 2012
Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon ...
Kariminejad Ariana - - 2012
This report describes a case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in a 1-year-old boy, born to healthy nonconsanguineous parents. Megalencephaly and bilateral postaxial polydactyly of upper and lower limbs were noted at birth. He had profound developmental delay and moderate hypotonia. Magnetic resonance imaging (MRI) of the brain revealed hydrocephalus, polymicrogyria in ...
Moynihan Gerard - - 2012
Subarachnoid haemorrhage is a condition that usually presents with headache and altered mental state. We report the case of a 50-year-old man with subarachnoid haemorrhage who presented with Terson's syndrome. This is a condition where there is retinal or vitreous haemorrhage secondary to subarachnoid or subdural haemorrhage.
Terelak-Borys Barbara - - 2012
Ocular ischemic syndrome is a rare condition, which is caused by ocular hypoperfusion due to stenosis or occlusion of the common or internal carotid arteries. Atherosclerosis is the major cause of changes in the carotid arteries. Ocular ischemic syndrome is manifested as visual loss, orbital pain and, frequently, changes of ...
Luo Hong - - 2012
Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital ...
Chen Chih-Ping - - 2012
We report a 26-month-old girl with profound hearing impairment, microcephaly, psychomotor retardation, short palpebral fissures, hypertelorism, epicanthic folds, a broad nasal bridge, anteverted nostrils, large low-set ears, micrognathia, brachymesophalangy of the second and the fifth fingers, clinodactyly of bilateral fifth fingers and a wide interdigital space between the first and ...
Peces Ramón - - 2012
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate (PIP2P) 5-phosphatase, is responsible for the phenotypic characteristics of the disease. We report a 22-year-old male with a severe form of OCRL syndrome, diagnosed ...
Ronquillo C C CC Program in Neuroscience, University of Utah Health Science Center, Salt Lake City, UT 84132, - - 2012
Senior-Løken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or Leber congenital amaurosis (LCA)-like retinal dystrophy and a medullary cystic kidney disease, nephronophthisis. Mutations in several genes (called nephrocystins) have been shown to cause SLS. The proteins encoded by these genes are localized ...
Cappellette Mario M - - 2012
The oromandibular and limb hypogenesis syndrome is characterized by aglossia or hypoglossia presenting with limb anomalies. In this case report, we describe congenital hypoglossia associated with glossopalatine ankylosis and middle finger hypomelia, a type III-D malformation in the Hall Classification. The orthodontic and surgical treatment consisted of 3 maxillary expansions, ...
Desai Jay - - 2012
Acute cerebellar ataxia and acute cerebellitis represent a process characterized by parainfectious, postinfectious, or postvaccination cerebellar inflammation. There is considerable overlap between these entities. The mildest cases of acute cerebellar ataxia represent a benign condition that is characterized by acute truncal and gait ataxia, variably with appendicular ataxia, nystagmus, dysarthria, ...
Garavelli Livia - - 2012
The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with ...
Marín-Lambíes Cristina - - 2012
ABSTRACT:: Pourfour du Petit syndrome is a rare dysautonomic disorder characterized by mydriasis, eyelid retraction, and hyperhidrosis and is caused by irritative stimulation of the sympathetic cervical chain. The authors describe a 45-year-old woman with iris heterochromia, who presented with episodes of ipsilateral mydriasis and hyperhidrosis and was found to ...
Xu Ji J Department of Physiology, University of California, Los Angeles, CA 90095, - - 2013
Defects in several different connexins have been associated with several different diseases. The most common of these is deafness, where a few mutations in connexin (Cx) 26 have been found to contribute to over 50% of the incidence of non-syndromic deafness in different human populations. Other mutations in Cx26 or ...
Pebrel-Richard Céline - - 2012
Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (DGS/VCFS), including heart defects, urogenital abnormalities and velopharyngeal insufficiency. We present an atypical and ...
Huber Celine - - 2012
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and short rib-polydactyly type III. Indeed, primary cilia play a vital role in transduction of signals in the hedgehog pathway that is ...
Campeau Philippe M PM Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. - - 2012
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a. MYST4/MORF). All variants are de novo dominant mutations that lead to protein truncation. Mutations leading to GPS occur in the proximal portion of ...
Saleem Moin A - - 2012
Nephrotic syndrome is a disorder of the glomerular filtration barrier, a highly specialised tri-layer structure with unique functional properties. Recent advances emanating from the field of molecular genetics have revealed the podocyte as probably the central player in the control of glomerular filtration. More specifically, the cell-cell junction between adjacent ...
Na Elisa S ES Department of Psychiatry, The University of Texas Southwestern Medical Center, Dallas, TX 75390-9070, - - 2013
Methyl-CpG-binding protein 2 (MeCP2) is a transcriptional regulator of gene expression that is an important epigenetic factor in the maintenance and development of the central nervous system. The neurodevelopmental disorders Rett syndrome and MECP2 duplication syndrome arise from loss-of-function and gain-of-function alterations in MeCP2 expression, respectively. Several animal models have ...
Moller Hans Ulrik HU Department of Ophthalmology, Regional Hospital Central Jutland, Viborg, Denmark. - - 2012
A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth. To describe the structural ocular findings in three Danish children with this new syndrome and ...
Rahim A - - 2012
Background: Antiphospholipid syndrome (APS) is defined as the presence of venous or arterial thrombosis, and/or recurrent miscarriage with evidence of antiphospholipid antibodies (aPL). In both primary and secondary APS, ocular and neurophthalmic manifestations such as retinal arteritis, retinal venous occlusion, ischemic optic neuropathy, transient loss of vision - amaurosis fugax, ...
Boulos Mark I - - 2012
: Hypomagnesemia has been associated with various neurological symptoms including ataxia. Reversible changes in cerebellar function have been described due to hypertensive changes, eclampsia, and immunosuppressive therapy in the context of posterior reversible encephalopathy syndrome. In this report we document isolated, reversible cerebellar findings with the corresponding neuroimaging correlates associated ...
Kokitsu-Nakata Nancy Mizue - - 2012
Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of ...
Belaya Katsiaryna K Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, - - 2012
Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed whole-exome sequencing to determine the underlying defect in a group of individuals with an inherited limb-girdle pattern of myasthenic weakness. We ...
Ruiz Marco - - 2012
ABSTRACT:: Frailty syndrome is frequently encountered in elderly populations. Frailty has been defined as a geriatric syndrome of increased vulnerability to environmental factors. Although knowledge of this syndrome continues to develop, there are still many areas of uncertainty. The pathophysiological pathways, role of biomarkers in the early identification of this ...
Demirel Sibel - - 2012
Abstract Purpose: To evaluate the functional and anatomical outcome after intravitreal ranibizumab injection in 2 patients with cystoid macular edema (CME) related to Irvine-Gass syndrome. Methods: Two patients with pseudophakic CME refractory to current standard topical treatment were enrolled in this study. Intravitreal (0.5 mg/0.05 mL) ranibizumab injection was performed. Baseline visits ...
Tanaka Takayuki - - 2012
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is an IL-1-driven autoinflammatory disorder caused mainly by NLRP3 mutations. The pathogenesis of CINCA syndrome patients who carry NLRP3 mutations as somatic mosaicism has not been precisely described because of the difficulty in separating individual cells based on the presence or absence ...
Nguyen Khue Vu - - 2012
Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNV). We report a case of two LNS affected members of a family with deficiency of activity of HPRT in intact cultured fibroblasts in whom mutation could not be found ...
Shaw Paul J - - 2012
Restless legs syndrome is a curious neurological disorder of unknown aetiology. A new study has found that Drosophila mutants in the fly homologue of a human gene, BTBD9, that has been implicated as a risk factor for restless legs display important features of the syndrome.
Kim Miri - - 2012
We begin by reviewing the first characterization of fragile X syndrome, which ultimately led to cloning of the FMR1 gene. Discovery of the molecular basis of this disorder, including expansion of a trinucleotide repeat, gave insight not only into fragile X syndrome but also into the premutation syndromes. Features of ...
Vucic Dragana - - 2012
Purpose: Our aim is to report the co-existence of Duane's retraction syndrome and Wyburn-Mason syndrome, a rare condition characterized by arteriovenous malformations (AVMs) in the central nervous system and retina. Methods: An 11-year-old boy was referred for evaluation of strabismus present since birth. On examination his uncorrected visual acuity was ...
Khan Arif O - - 2012
To characterize a novel and distinct hereditary clinical syndrome of microcornea, myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears. Retrospective series of patients referred to a pediatric ophthalmologist (2005-2010) and recognized to have microcornea (horizontal corneal diameter <=10.5 mm as measured by the IOLmaster [Carl Zeiss, Oberkochen, Germany]) and myopic chorioretinal ...
Al Ageeli Essam - - 2012
Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It had been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by ...
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