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Gnanavel Sundar S AIIMS, New Delhi, - - 2014
A mentally retarded 7-year-old male child presented with inattention and hyperactivity which was initially diagnosed as attention deficit hyperactivity disorder (ADHD). However, a careful evaluation of symptomatology along with clues provided by specific features of facial dysmorphism in this case along with genetic testing clinched the diagnosis of Smith-Magneis syndrome ...
Roy Mandy - - 2013
Because adult ADHD is often accompanied by psychiatric comorbidities, the diagnostic process should include a thorough investigation for comorbid disorders. Asperger-Syndrome is rarely reported in adult ADHD and commonly little attention is paid to this possible comorbidity. We investigated 53 adult ADHD-patients which visited our out patient clinic for first ...
Rizzo Renata - - 2013
BACKGROUND: Attention Deficit Hyperactivity Disorder (ADHD) is the most common co-morbid condition encountered in people with tics and Tourette Syndrome (TS). The co-occurrence of TS and ADHD is associated with a higher psychopathological, social and academic impairment and the management may represent a challenge for the clinicians. AIM: To review ...
Lilienfeld Scott O - - 2013
Comments on the original article by Marcus, Fulton, and Edens (see record 2011-23134-001). The term "syndrome" derives from the Greek, meaning to "run together." Accordingly, in organic medicine, syndromes are traditionally conceptualized as conditions marked by constellations of signs (observable indicators) and symptoms (subjective indicators) that covary across individuals (Kazdin, ...
Cerne Anja - - 2012
AIM: To analyse the correlates between the quality of life and chronic diseases and socio-demographic characteristics of patients in family medicine with a special emphasis on depression, panic syndrome, other anxiety syndrome and alcoholism. METHODS: In a longitudinal study, the data set of 516 family practice attendees recruited from 60 ...
Odell John A - - 2012
A patient with blunt trauma and traumatic bronchial rupture and lung collapse had prominent symptoms of platypnea-orthodeoxia syndrome. These symptoms were relieved by bronchial repair. The syndrome is rarely seen and is usually associated with a patent foramen ovale or atrial septal defect. The syndrome has not been described previously ...
Falah Orwa - - 2012
Hyperimmunoglobulin E syndrome is a rare primary immunodeficiency disorder defined by high serum immunoglobulin E titers and associated with characteristic infectious, dermatologic, skeletal, and dental abnormalities. We present the case of a 27-year-old man presenting acutely with a ruptured type IV thoracoabdominal aortic aneurysm. He was successfully treated by open ...
Kimberley Kiong Liqin - - 2011
Boerhaave syndrome is the spontaneous transmural rupture of the esophagus due to an increase in intraesophageal pressure when vomiting against a closed glottis. There are various methods of managing it, with the main principles of limiting sepsis, draining the area, and maintaining nutrition. These include conservative management, open repair with ...
van Niekerk Michael - - 2011
Compartment syndrome complicating a ruptured Achilles tendon has previously been reported in a surgically treated patient. However--to our knowledge--this is the first report of compartment syndrome following conservative treatment. A 45-year-old man ruptured his Achilles tendon and elected to have treatment in an equinus cast. Three weeks later, he developed ...
Mazhar Tooba - - 2011
Kienböck's disease is a condition of osteonecrosis of the lunate bone in the hand, and most patients present with a painful and sometimes swollen wrist with a limited range of motion in the affected wrist. Vaughan-Jackson syndrome is characterized by the disruption of the digital extensor tendons, beginning on the ...
Maguiness Sheilagh M - - 2011
Capillary malformations (CMs) are the most common vascular malformations. They are comprised of the small vessels of the capillary network in skin and mucous membranes. In the vast majority of affected individuals, CMs are isolated and not associated with any underlying abnormalities. Depending on size and location, however, they may ...
Pereira E A C - - 2010
An adult case of shunt malfunction presenting with acute quadriparesis as a manifestation of foramen magnum syndrome with acquired Chiari type I malformation is described in this study. The corticospinal function was restored after shunt revision. MRI showing considerable ascent of cerebellar tonsils after surgery is shown. Theories regarding the ...
Gains Malcolm J - - 2010
A 6-year-old Dachshund was presented with a 2-day history of lethargy, anorexia and cutaneous erythema, edema, and multifocal erythematous papules affecting the ventral abdomen, axillae, and groin. Microscopic examination revealed a sterile neutrophilic dermatitis resembling Sweet's syndrome; however, extracutaneous lesions were not present. The condition responded rapidly to corticosteroid therapy.
O'Connor Matthew J - - 2011
IntroductionEllis - van Creveld syndrome is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately 60% incidence of congenital malformations of the heart. Despite patients with Ellis - van Creveld syndrome being regarded as having a high surgical risk, few ...
Giuliani Stefano - - 2010
Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic ...
Tsurumi Haruko - - 2010
Bifid epiglottis is a congenital malformation defined as a midline-cleft of the epiglottis, which can be presented as an isolated anomaly as well as a part of malformation complexes. Its common occurrence in Pallister-Hall syndrome (PHS) has recently been attracting special attention. In the embryo, epiglottis, hypothalamus, and digital buds ...
Huang Jennifer T - - 2010
Vascular malformations are rare but important skin disorders in children, which often require multidisciplinary care. The goal of this article is to orient pediatricians to the various types of vascular malformations. We discuss the clinical characteristics, diagnostic criteria, and management of capillary, venous, arteriovenous, and lymphatic malformations. Associated findings and ...
Duffy Kelly - - 2010
Historically, vascular malformations were not thought to be the result of genetic abnormalities because most of those presenting clinically are sporadic. However, research in this field has expanded over the last decade, leading to the identification of genetic defects responsible for several inherited forms of vascular malformations and associated syndromes, ...
Dompmartin A - - 2010
The aim of this review was to discuss the current knowledge on aetiopathogenesis, diagnosis and therapeutic management of venous malformations (VMs). VMs are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneomucosal VMs or glomuvenous malformations), combined (e.g. capillaro-venous and capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, blue rubber bleb naevus ...
Sartori Stefano - - 2010
Joubert syndrome is a disorder characterized by ataxia, developmental delay, oculomotor anomalies, and breathing irregularities, with cerebellar vermian and midbrain dysgenesis. The molar tooth sign, reflecting the midbrain dysgenesis of Joubert syndrome, is the neuroradiological hallmark and is an essential sign in the identification of this condition. Variable vermian agenesis, ...
Bagazgoitia Lorea - - 2010
Described here is the case of a girl with a reticulated capillary malformation on the right side of her face, along with Dyke-Davidoff-Masson syndrome, as evidenced by microphthalmia and severe associated anomalies in the right eye, and right cerebral hemispheric atrophy and cerebral arteries malformations. Capillary malformations are a novel ...
Coulibaly Béma - - 2010
Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who ...
Reix Philippe - - 2010
Congenital chondroid lesions of the lung are rare pathological findings. They are a constant feature of lung malformations such as giant cystic pulmonary chondroid hamartoma, chondroid cystic malformation, and in the "cartilaginous variant" of congenital adenomatoid malformation. All of these present as a large single thoracic mass.We present the cases ...
Marsden N - - 2010
The association between congenital vascular malformations and altered bone growth, the so-called vascular bone syndrome, is well documented. Various eponymous syndromes each with their individual traits, such as Klippel-Trenaunay, Parkes-Weber and Servelle-Martorell syndrome have been described, along with variations. We report on a previously undescribed case of congenital vascular malformation ...
Marlin S - - 2010
Cerebral, ocular, dental, auricular, skeletal syndrome (CODAS, OMIM 600373) is a very rare congenital malformation syndrome. This clinical entity is highly distinctive and associates mental retardation, cataract, enamel abnormalities, malformations of the helix, epiphyseal and vertebral malformations, and characteristic dysmorphic features. Since 1991, only three affected children have been reported. ...
Yehia Baligh R - - 2010
Scimitar syndrome is a rare congenital malformation resulting in anomalous pulmonary venous return and lung malformations. Symptoms commonly develop in the first year of life, leading to diagnosis and surgical correction. In this case, the atypical presentation of scimitar syndrome in an adult woman with complaints of dyspnea on exertion ...
Gripp Karen W - - 2010
Costello syndrome is a rasopathy caused by germline mutations in the proto-oncogene HRAS. Its presentation includes failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. In a systematic review we found absolute or relative macrocephaly (100%), ventriculomegaly (50%), and other abnormalities on brain and spinal ...
Smith Matthew C P - - 2010
The genetic basis for a variety of vascular malformation syndromes have been described, with an increasing functional understanding of the associated genes. Genes responsible for familial vascular malformation syndromes have increasingly been shown to be involved in the control of vascular stability. Genes involved in vascular stability pathways are good ...
Kuo Michael D - - 2010
An 11-year-old boy presented with exercise intolerance due to chronic hypoxemia. Work-up revealed a diagnosis of hepatopulmonary syndrome (HPS) secondary to a congenital extrahepatic portal-venous shunt (Abernethy malformation). Plasticity in the developing liver was exploited as a strategy for the treatment of HPS. With use of a staged endovascular approach, ...
Valverde Israel - - 2010
Loeys-Dietz syndrome is a newly described entity characterised by a constellation of arterial tortuosity, cranial malformations, and hypertelorism. We report a case of a 7-year old boy with confirmed Loeys-Dietz syndrome and discuss magnetic resonance imaging as a complete technique for assessment and follow-up of aggressive vascular pathology in the ...
Ranger Adrianna - - 2010
There seems to be an association between type 1 Chiari malformation (CM) and some congenital craniosynostosis syndromes. Type 2 Pfeiffer syndrome is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatschädel deformity), prominent ptosis, thumb and first toe abnormalities, variable syndactyly, and mutated genes for type ...
Mutlu Mehmet - - 2010
Although renal and cardiac malformations are commonly seen in Turner syndrome (TS), anorectal malformations, multicystic dysplastic kidney and interrupted aortic arch are quite rare in TS. A newborn with TS with three quite rare congenital malformations (imperforate anus/anal atresia associated with rectovestibular fistula, interrupted aortic arch, and multicystic dysplastic kidney) ...
Schmidt Dieter D University Freiburg, Augenklinik, Killianstr. 5, 79106 Freiburg, Germany. - - 2010
Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome. MRI and cerebral angiography. In a 36-year-old man, magnetic resonance imaging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. ...
Phadke Shubha R - - 2010
Pediatricians deal with cases with the congenital malformations and malformation syndromes interest many of them. A lot of information about genes involved in development is available now. Genetics of hand development and genes involved in polydactyly syndromes is discussed in this article as a prototype to know about genetics of ...
Lee B B - - 2010
OBJECTIVES: To clear the confusion regarding the relationship between the 'primary lymphoedema' and (truncular) lymphatic malformation (LM); the latter is one of congenital vascular malformations. MATERIALS & METHODS: A literature review was carried out on the primary lymphoedema either existing as an independent LM lesion or as a component of ...
Liu Tao - - 2010
BACKGROUND: A study of prenatal genetic diagnosis for 22q11.2 microdeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization (FISH) technique and to ...
Halder Ashutosh - - 2010
BACKGROUND: The 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion. METHODS: A total ...
Preuss M - - 2010
Walker-Warburg syndrome is a very rare autosomal recessive disorder with congenital muscular dystrophy, brain malformations on the basis of a neuronal migration defect and ocular abnormalities. We report our experience in treating two cases of Walker-Warburg syndrome complicated by hydrocephalus with shunting and endoscopic techniques.
Milani Paolo - - 2010
Background. Tilted disc syndrome (TDS) is a congenital anomaly characterized by "tilting" of the optic disc tipycally associated with myopic astigmatism, visual field defect, inferior staphyloma, and retinal pigment epithelium atrophy. Associated complications such as macular serous neuroretinal detachment are well described; however, ideal therapy for such complication is unknown. ...
Mohammadjafari Razieh - - 2010
The present case study is on a 16-year-old woman who was suffering from nephrotic syndrome after recovery from complete type of hydatiform mole. She was admitted in hospital because of proteinurea and hematuria. Then she was showing a generalized edema compatible with neprhotic syndrome. In her past medical history she ...
Brockmann Knut - - 2009
The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this ...
Ozdemir Ozmert M A - - 2009
Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and preaxial upper-limb malformations, and it has an autosomal recessive inheritance. Valproate syndrome occurs after exposure to valproic acid in utero, and is characterized by trigonocephaly. Both syndromes can also present with other malformations. Herein, we report a female newborn and her brother ...
Zahariev Zahari Iv - - 2009
Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome characterized by scalp, facial, and ocular lesions and multiple intracranial malformations. Approximately 50 cases have been described in the literature. We report a 34-year-old woman with a 6-year history of epilepsy, without mental retardation, with predominantly ipsilateral skin lesions evident at birth, ...
Panconesi Alessandro - - 2009
Short-lasting unilateral neuralgiform headache (SUNCT) and first division trigeminal neuralgia (TN) are rare and very similar periorbital unilateral pain syndromes. Few cases of SUNCT are associated with posterior skull lesions. We describe a 54-year-old man with symptoms compatible with both the previous painful syndromes, associated with a small posterior skull ...
Taweevisit Mana - - 2009
Meckel-Gruber syndrome (MKS) is a fatal, autosomal recessive disorder characterized by malformation of central nervous system, particularly occipital encephalocele, bilateral renal dysplasia, and polydactyly. However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity. The associated heart anomaly in MKS is inconstant. Its ...
Simsek Tulay - - 2009
Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have ...
Mahajan Jai Kumar - - 2009
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct structures agenesis. Anorectal malformations are uncommonly associated with MRKH syndrome, and among them, rectovestibular fistula and cloacal malformations have been commonly described. H-type of anovestibular fistula associated with MRKH syndrome has not been reported previously. One such case along with its treatment ...
Bessi??res-Grattagliano B - - 2009
Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with inclusion-bearing endothelial cells. This peculiar vascular malformation was delineated by Fowler in 1972 as a stereotyped lethal fetal phenotype associating hydranencephaly-hydrocephaly with limb deformities, called Fowler syndrome ...
Linder Jessica M - - 2009
Of the 1% to 2% of newborns that are born with congenital defects, 10% of these are born with upper extremity malformations. Although many classification systems have been developed, the most widely used classification system was developed by Swanson. This system categorizes the congenital upper extremity malformations according to the ...
Turk Bengu Gerceker - - 2009
Acroangiodermatitis is a group of benign, angioproliferative cutaneous disease caused by chronic venous insufficiency, acquired or congenital arteriovenous shunts and limb paralysis. Stewart-Bluefarb syndrome is the type of acroangiodermatitis which is associated with a congenital arteriovenous malformation. This is a rare syndrome characterized by cutaneous kaposiform lesions that usually onset ...
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