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Klaiman Cheryl C Marcus Autism Center, Children's Healthcare of Atlanta, Atlanta, Georgia;Emory University, School of Medicine, Atlanta, Georgia; - - 2014
To examine longitudinally the adaptive behavior patterns in fragile X syndrome. Caregivers of 275 children and adolescents with fragile X syndrome and 225 typically developing children and adolescents (2-18 years) were interviewed with the Vineland Adaptive Behavior Scales every 2 to 4 years as part of a prospective longitudinal study. ...
Kargl S S Department of Pediatric Surgery, Women's and Children's Hospital Linz, Linz, - - 2014
Costello syndrome is a rare congenital disease with typical craniofacial and musculoskeletal features, cutaneous lesions, cardiac defects and cancer susceptibility. Affected patients show severe feeding difficulties for the first years of life and developmental delay. We present the case of a patient, in whom fetal tachycardia, polyhdramnios and physical characteristics ...
Brady Paul D PD Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, - - 2014
Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies ...
Chai Hanjing H Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, - - 2014
To investigate the prevalence, clinical presentation, prenatal management and prognosis of mirror syndrome associated with twin-twin transfusion syndrome (TTTS) treated by amnioreduction or selective fetocide. A retrospective study of twin pregnancies with TTTS was conducted. The prevalence of mirror syndrome, defined as severe maternal edema related to fetal hydrops and ...
Martin Brett M BM UCLA School of Dentistry, Los Angeles, - - 2014
Serpentine fibula polycystic kidney syndrome (SFPKS; OMIM600330) is a rare skeletal dysplasia with a characteristic phenotype that includes polycystic kidneys, S-shaped fibulas, and abnormal craniofacial features. SFPKS shares features with Alagille (AGS; OMIM) and Hajdu-Cheney (HCS; OMIM10250) syndromes. All three syndromes result from mutations in the gene that encodes NOTCH2, ...
Silva Joana Raquel JR Gynecology/Obstetrics Department, Vila Nova de Gaia-Espinho Hospital Center , Vila Nova de Gaia, Portugal - - 2014
Abstract Breastfeeding has universally known advantages to the mother and child that include nutritional and immunological benefits but also involve reasons of ecological and economic order. Initiation and maintenance of breastfeeding can be associated with common problems. The beginning of milk production may course with bloody nipple discharge, which, after ...
Lambrecht Charlotte C Department of Dermatology, University Hospitals Leuven, Leuven, - - 2014
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata, CDPX2 [Online Mendelian Inheritance in Man 302960]) is a rare genodermatosis that presents with blaschkolinear ichthyosis, cicatricial alopecia, chondrodysplasia punctata, asymmetric shortening of the bones, and cataracts. In this case report we describe a child presenting with a patterned alopecia in which supplementary signs ...
Fritz Christian J CJ 1Department of Neonatology,Children's Hospital,University Hospital of - - 2014
VACTERL association and Scimitar syndrome are rare congenital diseases. In this study, we report on a neonate with prenatal suspicion of VACTERL association and small left-sided cardiac structures, which, only on postnatal angiography, could be revealed to be part of a Scimitar syndrome. As this is the second reported case ...
Kubokawa Ikuko - - 2014
TAFRO syndrome is a unique clinicopathologic variant of multicentric Castleman's disease that has recently been identified in Japan. It is characterized by a constellation of symptoms: Thrombocytopenia, Anasarca, reticulin Fibrosis of the bone marrow, Renal dysfunction and Organomegaly (TAFRO). Previous reports have shown that affected patients usually respond to immunosuppressive ...
Sevilla-Montoya Rosalba R Departamento de Genética y Genómica, Instituto Nacional de - - 2014
Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a ...
Tayler E E Department of Obstetric Anesthesiology, Albany Medical Centre, Albany, NY, USA. Electronic address: - - 2014
Mirror syndrome (Ballantyne syndrome, triple edema, maternal hydrops, pseudotoxemia) is a rarely diagnosed condition associated with pregnancy that can be life-threatening for both the mother and fetus. There is limited literature on its pathogenesis and anesthetic management, making prevention and treatment complex. The duration of pregnancy and severity of maternal ...
Patrick Lauren M LM Department of Plastic Surgery, Georgetown University Hospital, Washington, District of - - 2014
Rapidly involuting congenital hemangioma (RICH) is an uncommon vascular tumor that, unlike infantile hemangioma, is largely developed at birth and undergoes rapid postnatal involution. To date, RICH has often been described in the setting of an isolated lesion, whereas infantile hemangioma is a well-known feature of numerous syndromes and associations, ...
Kitova Tanya Todorova TT 1 Department of Anatomy, Histology and Embryology, Medical University of Plovdiv , Plovdiv , - - 2014
Objectives: To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies, as well as, to analyze the associated anomalies and to emphasize the importance of the clinical examination of ACC. Methods: The subjects of observation are 20 fetuses from a total of ...
Seltzer Laurie E - - 2014
Several genetic disorders are characterized by normal head size at birth, followed by deceleration in head growth resulting in postnatal microcephaly. Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, ...
Asıcıoglu O O Department of Obstetrics and Gynecology, Şişli Etfal Training and Research Hospital , - - 2014
Abstract In this study, we compared the perinatal and maternal outcomes of women with eclampsia with and without HELLP syndrome. A total of 219 pregnancies complicated by eclampsia with and without HELLP syndrome managed between January 2002 and December 2011, were reviewed. The incidence of eclampsia was 1.7/1,000 deliveries. Among ...
Afzal Muhammad M Department of Paediatrics, Quaid-e-Azam International Hospital, - - 2014
Antenatal Bartter syndrome is characterized by severe polyhydramnios in mother leading to premature delivery. Antenatal treatment has proven effective to prevent these problems. Postnatally newborns suffer from recurrent episodes of severe dehydration and electrolyte imbalance which can lead to fatal outcome. These manifestations are likely to be overlooked and missed ...
Joshi Beena B Department of Operational Research, National Institute for Research in Reproductive Health, Indian Council of Medical Research, Mumbai, - - 2014
Polycystic ovary disease is a common endocrine condition which is rapidly gaining epidemic proportions. No community based prevalence data is available for this syndrome in India. A cross-sectional community-based study was undertaken in a sampled census block of Mumbai to assess the prevalence of polycystic ovarian syndrome (PCOS) among 778 ...
Pantaleo Greco - - 2014
Amniotic fluid embolism is a rare but dreadful syndrome in Obstetrics, which happens, in most of the cases, in the peripartum period. The actual "embolisation" of the pulmonary vessels does not explain the whole picture of the syndrome. An immune mechanism, similar to an anaphylactic reaction, is more convincingly the ...
Vitek Wendy W Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Rochester Medical Center, Rochester, New - - 2014
Adolescence is a time of rapidly changing reproductive hormones and menstrual patterns making diagnosis of polycystic ovary syndrome (PCOS) challenging in this population. Nonetheless, there is significant concern that the metabolic and reproductive abnormalities that emerge at adolescence associated with a diagnosis of PCOS have lifelong implications for the individual. ...
Levine Harold H Department of Radiology, Baylor University Medical Center at - - 2014
HELLP (hemolysis, elevated liver enzymes, low platelet) syndrome is a dreaded complication that may develop during pregnancy or in the immediate postpartum period. Rarely this syndrome manifests itself with imaging findings. We report a case of HELLP syndrome in which the diagnosis was reaffirmed via imaging findings.
Sisodia Rinky R Department of Pedodontics and Preventive Dentistry, Rishi Raj College of Dental Sciences and Research Centre, Bhopal, Madhya Pradesh, India, - - 2014
Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, ...
Hughes Tara - - 2014
This article sets out my observations of my daughter's difficult pregnancy and late-stage miscarriage. I share this information to raise awareness that the specialist support for women going through this is not always in place and doesn't fully prepare women for this experience. Even though this can be uncomfortable for ...
Mahgoub Linda L Department of Pediatrics, The Stollery Children's Hospital, Edmonton, Alberta, - - 2014
Miller-Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions presenting in the same patient.
Lederer Damien D Center for Human Genetics, IPG, Charleroi, (Gosselies), - - 2014
Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In ...
Wennberg Patrik P Department of Public Health and Clinical Medicine, Family Medicine, Umeå University, , Umeå, - - 2014
Accumulating evidence suggests that television (TV) viewing is associated with cardio-metabolic risk, but little is known about how this relationship unfolds over the life course. This study employs a life course epidemiological framework by examining the potential cumulative effect of frequent TV viewing during adolescence and young adulthood on the ...
Laverdure Noémie N Service de gastroentérologie, hépatologie et nutrition pédiatrique, hôpital Femme-Mère-Enfant, hospices civils de Lyon, université Lyon 1, CHU de Lyon, 59, boulevard Pinel, 69500 Bron, France. Electronic address: - - 2014
Alpha 1 antitrypsin deficiency (AATD) is an autosomal co-dominant disease linked to a mutation of the SERPINA1 gene localized to chromosome 14q32. Uniparental disomy (UPD) is known to be a genetic mechanism that causes various syndromes. Maternal UPD14 presents with a Prader-Willi syndrome-like phenotype. No publications to date have dealt ...
Inbar-Feigenberg Michal M Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, Ontario, - - 2014
We report the prenatal findings in two cases with Beals syndrome (BS). Both presented with clinical features of AMC/FAS including clenched fists and multiple joint contractures on repeated prenatal ultrasounds. The first was diagnosed as having BS on physical examination shortly after birth and the diagnosis was confirmed on DNA ...
Shakeel Shaheera - - 2014
To determine the frequency and clinicopathological correlations of focal segmental glomerulosclerosis variants in adolescents with idiopathic nephrotic syndrome. All consecutive adolescents (12 to 18 years) who presented with idiopathic nephrotic syndrome in the period, January 2009 to December 2012, and in whom the histological diagnosis of focal segmental glomerulosclerosis was ...
Agudelo Gloria M GM 1 Clinical Nutrition, Vidarium Research Group, Nutrition, Health and Wellness Research Center, Nutresa Business Group (Grupo Empresarial Nutresa) , Medellín, Colombia - - 2014
Abstract Background: Despite the increasing prevalence of metabolic syndrome in adolescents, there is no consensus for its diagnosis. Methods: A cross-sectional study was conducted to compare the prevalence of metabolic syndrome in adolescents by different definitions, evaluate their concordance, and suggest which definition to apply in this population. A total ...
Mills A T AT Department of Anaesthetics, Plymouth Hospitals NHS Trust, Derriford, Plymouth, Devon, UK. Electronic address: - - 2014
Paracetamol is the most frequently used analgesic during pregnancy and the most common drug involved in suicidal overdose in the UK. Manifestation of toxicity classically occurs over four phases with clinical and laboratory features resembling HELLP (haemolysis, elevated liver enzymes, low platelets) syndrome. We report a case that was erroneously ...
Kellogg Gregory G Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, H315, Stanford, CA, 94305-5208, - - 2014
Noninvasive prenatal testing (NIPT) allows for highly sensitive detection of Down syndrome early in pregnancy with no risk of miscarriage, therefore potentially increasing the number of pregnancies identified with Down syndrome. This study assesses how mothers of children with Down syndrome perceive NIPT, especially the impact they think it will ...
Pitts Samantha I - - 2014
We report a case of congenital rubella syndrome in a child born to a vaccinated New Jersey woman who had not traveled internationally. Although rubella and congenital rubella syndrome have been eliminated from the United States, clinicians should remain vigilant and immediately notify public health authorities when either is suspected.
Schiess Regula R Anthropological Institute and Museum, University of Zuerich, Winterthurerstrasse 190, 8057 Zuerich, - - 2014
Owing to its completeness, the 1.5 million year old Nariokotome boy skeleton KNM-WT 15000 is central for understanding the skeletal biology of Homo erectus. Nevertheless, since the reported asymmetries and distortions of Nariokotome boy's axial skeleton suggest adolescent idiopathic scoliosis, possibly associated with congenital skeletal dysplasia, it is questionable whether ...
Takahashi Hironori H Department of Obstetrics and Gynecology, Jichi Medical University, Tochigi, - - 2014
Various fetal or placental disorders cause Ballantyne's (mirror) syndrome. For the first time, we report a maternal manifestation of Ballantyne's syndrome occurring concomitantly with the development of fetal congenital mesoblastic nephroma (CMN). In a pregnant woman with a CMN fetus, lung edema, hypertension, hyperthyroidism, and high serum human chorionic gonadotrophin ...
Palomba Stefano S Department of Obstetrics and Gynecology, Arcispedale S. Maria Nuova of Reggio Emilia, IRCCS , Reggio Emilia , Italy - - 2014
Abstract The management of oligo-amenorrhea in adolescent patients with polycystic ovary syndrome (PCOS) represents an important and difficult challenge. Metformin and/or oral contraceptives (OCs) are different strategies widely proposed in these patients. The objective of the current review was to provide an overview on the use of metformin and/or OCs ...
Piotrowski Krzysztof K Unit of Cytogenetics, Department of Pathology, Pomeranian Medical University, Szczecin, Poland. - - 2014
Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly ...
Gueniche Karinne - - 2014
The authors' clinical experience with young girls with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), who are facing the often hastily suggested, and accepted, surgical treatment of vaginal reconstruction brings new light to the question of female sexuality and its specific modes of access: its traumatic aspects, the mother-daughter conflict of ambivalence and the ...
Kumar Naresh N Department of Medicine, Maulana Azad Medical College, New Delhi, - - 2014
Sheehan syndrome is a rare but potentially serious complication of postpartum haemorrhage. The diagnosis can often be delayed by many years as symptoms may be subtle. We report the case of a 45-year-old woman who presented to the medical emergency unit with acute onset altered sensorium. On further evaluation she ...
Amado Marta M Department of Pediatrics, Hospital Unit of Portimão, Centro Hospitalar do Algarve, Portimão, - - 2014
Marfan syndrome (MFS) is a genetic disorder of the connective tissue which rarely manifests in the neonatal period and has an ominous prognosis. A case of a first female offspring of healthy parents is described here. The pregnancy was uneventful and the mother had a term caesarean delivery. At birth, ...
Cırık Derya Akdağ DA Department of Reproductive Endocrinology and Infertility, Ankara Etlik Zübeyde Hanım Women's Health Education and Research Hospital, Ankara, - - 2014
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy of reproductive-aged women that manifests itself with a variety of features. For this reason, three different diagnostic criteria have been introduced. For adults, the National Institutes of Health Conference (NIH) criteria, which consists of hyperandrogenism and oligo-anovulation, is the most widely ...
Giambanco Laura L 0000-0002-7755-6037 Obstetric and Gynecology Department, Civico Hospital, Piazza N. Leotta 4, 90100 Palermo, - - 2014
Introduction. Brugada syndrome is characterized by a disruption of heart's normal rhythm. It is an autosomal dominant disease due to a mutation of SNC5A gene. Its prevalence is low all over the world, but it is a lethal disease. Sudden cardiac death is the result of phenotypic manifestation of Brugada ...
Mockova A A 1Department of Neonatology, Faculty of Medicine in Pilsen and University Hospital, Charles University in Prague, Czech - - 2013
The case presented describes a high-risk pregnancy of a woman with systemic lupus erythematosus (SLE) with multiple lesions of central nervous system (CNS), vasculitis, secondary epilepsy and antiphospholipid syndrome (APS). At gestational age 28 weeks and 3 days the pregnancy was urgently terminated via caesarean section and an extremely hypotrophic ...
Terry Jefferson - - 2013
Abstract Cardiofaciocutaneous (CFC) syndrome is a RASopathy phenotypically characterized by facial, cardiac, and ectodermal abnormalities. The extent to which this phenotype is expressed in the affected fetus is unclear and a better understanding of the fetal autopsy findings in CFC syndrome could facilitate diagnosis and understanding of the developmental effects ...
Cakmak Bulent B Department of Obstetrics and Gynecology, School of Medicine , Gaziosmanpasa University - - 2013
The purpose of this report is to present a case of mild Pre-eclampsia which was complicated with postpartum HELLP syndrome. A 25-years-old pregnant woman with mild Pre-eclampsia at 36 weeks of gestation was admitted to our clinic with uterine contractions. A caesarean section was performed, due to her previous caesarean ...
Günbatar Hülya - - 2013
Yellow nail syndrome (YNS) is an uncommon clinical syndrome characterized by yellow-green discoloration of nails and recurrent respiratory tract lesions, pleural effusions, and lymphedema. A thirty-eight years old woman was referred to the emergency complaining of chronic cough and increasing dyspnea within last two week. She had give a birth ...
Churilov L P - - 2013
The history of autoimmune thyroiditis (AIT) and its role in pathophysiology of transition from adolescent hypothalamic syndrome (obesity with rose striae) into early metabolic syndrome is reviewed. Marfanoid phenotype and chronic disequilibrium between local, autacoid-mediated and systemic, hormone-mediated regulation, typical for inherited connective tissue disorders, may promote this transition. Pathogenetic ...
Alqahtani Aayed R AR Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address: - - 2014
Currently, no topic is more controversial in bariatric surgery than performing these procedures on children with monogenic and syndromic forms of obesity. The medical community and the caregivers of those patients are struggling to find a solution that can alleviate their suffering and save their life. In all forms of ...
Chung Brian H Y - - 2013
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by hypertelorism, bifid uvula, cleft palate and arterial tortuosity. We report on a patient with LDS, bearing mutation in the TGFβR2 gene, whose prenatal examination demonstrated clenched fists and club feet, suggesting arthrogryposis multiplex congenita. Postnatal assessment showed digital ...
Fang J - - 2013
In countries such as the United States where rubella virus infections are rare, congenital rubella syndrome (CRS) may not be recognized in a timely manner. However, the syndrome still appears in this country, often in infants of mothers emigrating from countries with absent or suboptimal national vaccination programs. We describe ...
Wong Sze Choong - - 2013
To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with ...
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