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Tug Esra E Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Turkey. - - 2013
Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males. ...
Classen Carl Friedrich - - 2013
When a known microimbalance affecting multiple genes is detected in a patient with syndromic intellectual disability, it is usually presumed causative for all observed features. Whole exome sequencing (WES) allows questioning this assumption. In this study of three families with children affected by unexplained syndromic intellectual disability, genome-wide copy number ...
Jo Dae Gi - - 2013
Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of ...
Ciftci Ilhan - - 2013
Vaginal agenesis is known as one of the Mόllerian anomalies. Mόllerian anomalies occur during gonadal development and differentiation, and may lead to complex outcomes. McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by Mόllerian anomalies with hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of ...
Yaqoob Muhammad - - 2013
The etiology of cleft lip (CL) and/or cleft palate (CP) has been extensively studied in industrialized countries and is suggested to be heterogeneous with increasing evidence that both genetic and environmental factors are operating. To evaluate this assertion in a developing country like Pakistan, a case finding cross-sectional study was ...
Kemeny S - - 2013
The 48,XXYY syndrome is a rare uncommon gonosome aneuploidy and its incidence is estimated to be 1:18,000-1:40,000. The phenotype associated with this syndrome, classically described as Klinefelter variant, is extremely variable but developmental abnormalities are always present. Ultrasound signs during pregnancy are inconsistent, and only three prenatal cases have been ...
Kılıç Esra - - 2013
Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype. Autosomal dominant mutations and deletions of the nuclear receptor set domain gene (NSD1), which is located at chromosome 5q35, are responsible for most of the cases. ...
Delio Maria M Departments of Genetics, Pediatrics, and Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine, Bronx, NY 10461, - - 2013
Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to ...
Altıncık Ayça - - 2013
Abstract Aarskog-Scott syndrome, also termed as faciogenital dysplasia, is an X-linked disorder consisting of short stature, craniofacial dysmorphism, shawl scrotum, cryptorchidism, and interdigital webbing. Cardiac and central nervous system abnormalities and behavioral disorders can also be detected. The gene responsible for the syndrome is called FGD1, located at Xp11.21. A ...
Gipson Debbie S - - 2013
BACKGROUND: Data describing inpatient health care utilization in children with nephrotic syndrome and related severe complications are limited. Our goals were to describe the charges, length of stay (LOS), and number of hospitalizations among children, adolescents, and young adults with nephrotic syndrome. STUDY DESIGN: A cross-sectional analysis of the Kids' ...
Skotko Brian G - - 2013
We investigated what added value, if any, a Down syndrome specialty clinic brings to the healthcare needs of children and adolescents with Down syndrome. For this quality improvement study, we performed a retrospective chart review of 105 new patients with Down syndrome, ages 3 and older, seen during the inaugural ...
Martin James N JN - - 2013
OBJECTIVE: We explored the prevalence of Composite Major Maternal Morbidity (CMMM) for patients with severe preeclampsia (SPRE) and each class or category of HELLP syndrome. METHODS: In a retrospective cohort study from 2000-2010, we reviewed maternal charts of patients categorized with complete or partial HELLP syndrome. From 2005-2007 the maternal ...
Shoib Sheikh - - 2013
Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is ...
Wu Jianhua - - 2013
There have been concerns about the effects of increases in maternal age since the 1980s on the prevalence of Down's syndrome. This study examined changes in the distribution of maternal age in England and Wales from 1938 to 2010. The live birth prevalence of Down's syndrome in the absence of ...
De Keersmaecker Bart - - 2013
We report the prenatal sonographic detection of a fetus with megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly. Only 14 patients have been reported in the literature so far, all but one were diagnosed postnatally. The polymicrogyria in the frontoparietal lobe was confirmed by prenatal magnetic resonance imaging. Additionally, a hypoplastic thymus ...
Gaudineau A A Department of Maternal and Fetal Medicine, Hautepierre University Hospital, Strasbourg, France. - - 2013
Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that vary widely in expressivity. Lymphatic dysplasia induced during the embryonic stage might interfere with tissue migration. Our hypothesis is that the earlier the edema, the more severe ...
Barber John C K - - 2013
The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another prenatal and five postnatal patients with de novo 8p23.1 duplications analyzed with oligonucleotide array comparative genomic hybridization (oaCGH). Of the ...
Lekovic Jovana P - - 2013
A 28 year old woman, 34 weeks pregnant, with previously diagnosed antiphospholipid syndrome, presents with vesicular tongue lesions treated as herpes outbreak and new onset of preeclampsia. Tongue biopsy preformed postpartum after induction of labor for preeclampsia reveals tongue infarction.
Ladekarl Morten - - 2013
This case describes the clinical course and treatment of a 17-year-old male patient with advanced hepatocellular carcinoma (HCC) arising in a non-cirrhotic liver. The disease was thought to be caused by a congenital cholestatic syndrome associated with intermittent oedema in childhood, resembling the rare Aagenaes syndrome. Treatment choices in advanced ...
Mehairi Aaesha E - - 2013
OBJECTIVES: Population-based data on metabolic syndrome (MetS) among children is lacking in the United Arab Emirates which has among the highest rates of diabetes in the world. In this study we determined the prevalence of MetS and its correlates in a sample of adolescents. MATERIALS AND METHODS: A cross-sectional school-based ...
Zis Panagiotis - - 2013
We report a case of a young woman, with a history of a miscarriage and a molar pregnancy, who developed headache and status epilepticus in postpartum day three. Posterior reversible encephalopathy syndrome (PRES) and cerebral venous and sinus thrombosis (CVST) can present with identical clinical picture; however, the imaging findings ...
Singh Narinder - - 2013
To estimate the prevalence of metabolic syndrome among adolescents attending school in the Jammu region, India. This is a cross-sectional study conducted between November 2009 and December 2010, among a total of 1160 school-going adolescents of both sexes aged 10-18 years. Relevant metabolic and anthropometric variables were analyzed and criteria ...
Kouki Sami - - 2013
Spontaneous pneumomediastinum and subcutaneous emphysema (Hamman's syndrome) are rare but potentially dangerous complications of labour. The authors reported a case of a 23-year-old primigravida, admitted to our hospital for delivery after 40 weeks of pregnancy. She delivered a baby of 4.27 kg after 9 h from the start of labour. ...
Cozon Caroline Louise - - 2013
Adolescent idiopathic scoliosis in Down's syndrome individuals has previously been reported in the context of institutionalised individuals and is of an iatrogenic nature, resulting from previous thoracotomy for congenital heart defects. We report the case of a male, non-institutionalised Down's syndrome individual, with no history of previous thoracic surgery and ...
Gibson R C - - 2013
The case of a 16-year old Jamaican girl who presented to the psychiatric service of a general hospital with features of Capgras syndrome is presented. Her history, treatment, progress and relevant psychodynamic and neurocognitive issues are explored. This is the first known published case of an adolescent with Capgras syndrome ...
Tegene Teshome - - 2013
The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal ...
Sandhu Meera - - 2013
Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on a child with Filippi syndrome who shows syndactyly of fingers, severe postnatal growth retardation, postnatal microcephaly, ...
Valle Maria Stella - - 2013
Movement disturbances associated with Down syndrome reduce mechanical stability, worsening the execution of important tasks such as walking and upright standing. To compensate these deficits, persons with Down syndrome increase joint stability modulating the level of activation of single muscles or producing an agonist-antagonist co-activation. Such activations are also observed ...
Pereira Daniela Cardoso DC Department of Obstetrics and Gynecology, School of Medical Sciences, Santa Casa de São Paulo (FCMSCSP), São Paulo, SP, - - 2013
Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of ...
Mazza Vincenzo V Prenatal Medicine Unit, Policlinico Modena, Via Largo Del Pozzo 71, 41124 Modena, - - 2013
Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY ...
Guzelmansur I I Department of Radiology, Antakya Mozaik Maternity Hospital, Antakya, Turkey. - - 2013
Oculoauriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies. We report a patient with unusual features diagnosed prenatally by 3D ultrasonography at 21 weeks' gestation without a family history. An early diagnosis was suggested by ...
Barroso Bruno B Stroke Unit, Department of Neurology, F. Mitterrand Hospital, Pau, - - 2013
A postpartum four-vessel cervical artery dissection with no stroke is reported. This transient vasculopathy took place in the autoimmune context of the HELLP syndrome combined with the reversible posterior leucoencephalopathy syndrome. Correlations between the clinical, radiological and biological entities are discussed.
Chehade Cynthia C Department of pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, - - 2013
Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic dysmorphic facial features. Although many cases have been reported, the cause of this disease is still unknown. We present here the case of a Lebanese girl with ...
Heath John A - - 2012
Lynch syndrome (hereditary non-polyposis colorectal cancer; HNPCC) is an autosomal dominant cancer predisposition syndrome with high penetrance. It is caused by heterozygous germline mutations in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. Carriers are at high-risk for developing colorectal carcinomas, as well as various ...
Urumova A - - 2012
(Full text is available at http://www.manu.edu.mk/prilozi). Trisomy 21, the cause of Down syndrome (DS), is the most frequent trisomy in humans. The risk for DS increases with maternal age: mothers under 25 years of age are known to have an average risk of a DS pregnancy of 1: 1600, rising ...
Sullivan C T - - 2013
Segmental hemangiomas of the head and neck can be associated with multiple congenital anomalies in the disorder known as PHACE syndrome (OMIM 606519) (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, and eye anomalies). All reported cases of PHACE syndrome to date have been sporadic, and the genetic basis of ...
Adeb Melkamu - - 2012
Megacystis microcolon intestinal hypoperistalsis syndrome is a rare congenital anomaly. Several pathogeneses have been described so far, but there is no single mechanism that can explain all the findings of the syndrome. Affected newborns usually present clinically in the first few days of life. The mainstay of diagnosis is a ...
Loh James - - 2012
Branchiooculofacial syndrome (BOFS) is a rare autosomal-dominant condition characterized by branchial cleft sinus and ophthalmologic and craniofacial abnormalities that can range from mild to severe forms. Ectopic thymus, an uncommon condition with just over 100 cases reported in the literature, is seen in BOFS. We report a family with BOFS ...
Guaragna-Filho Guilherme - - 2012
Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We ...
Neubert Gerda - - 2012
Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, facial dysmorphism, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter. It is most frequently caused by a de novo maternal deletion of chromosome 15q11-q13 (about 70-90%), but can also be caused by paternal ...
Fitzpatrick Stephanie L SL Department ofMedicine, Johns Hopkins School ofMedicine, Baltimore, MD, USA. - - 2013
Although African American adolescents have the highest prevalence of obesity, they have the lowest prevalence of metabolic syndrome across all definitions used in previous research. To address this paradox, we sought to develop a model of the metabolic syndrome specific to African American adolescents. Data from the National Health and ...
Muranjan Mamta N - - 2012
OBJECTIVES: To study blame ascription among parents of children with Down syndrome and to study its correlation with sociodemographic factors, parental perception of dysmorphisms and parents' knowledge about Down syndrome. This is a prospective, observational, non-interventional case control study. METHODS: Interview of biological parents of children with Down syndrome less ...
Nicandri Katrina F - - 2012
PURPOSE OF REVIEW: To review what is understood about the pathophysiology of polycystic ovarian syndrome (PCOS), the diagnostic challenges of PCOS in adolescent women, associated risk factors, as well as the best evidence-based treatment options for adolescence. RECENT FINDINGS: Diagnosing PCOS in adolescents requires a unique set of criteria for ...
Kaltenbach Sophie - - 2012
We report a child with Beckwith-Wiedemann syndrome (BWS) as the consequence of an apparently balanced, maternally inherited reciprocal translocation t(11;17)(p15.5;q21.3). His mother and aunt, who inherited the translocation from their father, did not have BWS. At birth, long QT syndrome was diagnosed in this child and, secondarily, among apparently healthy ...
Pop-Trajković Sonja - - 2012
Abstract Unexpected rapid maternal death after delivery due to HELLP syndrome is rarely encountered and may become the subject of forensic expertise. Unexpectedness, suddenness, and fulminant course of this syndrome as well as absence of classical signs of pre-eclampsia can confuse physicians and lead to diagnostic delay. A definitive post-mortem ...
Sumathipala Dulika - - 2012
49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for genetic ...
Uma R - - 2012
A male baby was delivered by Caesarean section at term to a 35 years second gravida lady with fibroid uterus. The mother was booked and immunized and not on any medication. Antenatal and natal periods including serial ultrasounds were normal. At birth the neonate was observed to have multiple grooves ...
Pavone P - - 2012
The authors report on a child with a rare variant of the Tetralogy of Fallot with pulmonary atresia also known as Pseudotruncus arteriosus, who was born by a mother affected by classic phenylketonuria (PKU), diet free of phenylalanine untill the age of seven years. According to the authors, this is ...
Gul Ahmet - - 2012
Chromosome 22q11.2 deletion syndrome is a common genetic disorder, also known as DiGeorge syndrome. It occurs in approximately 1:4,000 births, and the incidence is increasing due to affected parents bearing their own affected children. We report the prenatal diagnosis of 22q11.2 deletion syndrome by fluorescence in situ hybridization in twin ...
Tanidir Canan - - 2012
Objectives: To investigate the most frequent reasons for referral, the most common special interests, age at first referral to a mental health service, and the age of diagnosis in children and adolescents with Asperger syndrome living in Turkey.Methods: This study includes 61 children and adolescents diagnosed with Asperger syndrome using ...
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