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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 ...
Giacobbe Annamaria - - 2012
Abstract Mirror syndrome is a triad consisting of fetal hydrops, maternal edema and placentomegaly. Its pathogenesis is unclear and it is frequently mistaken for preeclampsia, even though distinguishing features can be identified. It is associated with an increase in fetal mortality and maternal morbility. We report an uncommon case of ...
Popowski T - - 2012
Duplication 17p11.2 (Potocki-Lupski syndrome (PTLS) MIM# 610883) is a genomic disorder with an estimated incidence of 1 in 25,000 births. As for other genomic disorders this duplication is typically de novo and is not associated with advanced maternal age or advanced paternal age. Herein we describe a prenatal diagnosis of ...
Aksglaede L - - 2012
47,XXY Klinefelter syndrome (KS) is the most common sex chromosome disorder affecting 1 in 660 newborn boys (1). Adolescent and adult patients with KS are characterised by hypergonadotropic hypogonadism, tall stature with eunuchoid body proportions, increased truncal fat and small testes, whereas no specific clinical or physical hallmarks have been ...
Saper Clifford B - - 2012
During illnesses caused by infectious disease or other sources of inflammation, a suite of brain-mediated responses called the sickness syndrome occurs, which includes fever, anorexia, sleepiness, hyperalgesia and elevated corticosteroid secretion. Much of the sickness syndrome is mediated by prostaglandins acting on the brain and can be prevented by nonsteroidal ...
Usenovic Marija - - 2012
The autophagy-lysosomal pathway plays an important role in the clearance of long-lived proteins and dysfunctional organelles. Lysosomal dysfunction has been implicated in several neurodegenerative disorders including Parkinson's disease and related synucleinopathies that are characterized by accumulations of α-synuclein in Lewy bodies. Recent identification of mutations in genes linked to lysosomal ...
de Souza Thayse Rodrigues - - 2012
Juvenile Sjögren's syndrome is a rare condition that affects children and adolescents with distinctive clinical features. Parotid swelling usually precedes regular oral and ocular symptoms, while typical serological findings may be absent. Hence, diagnosing juvenile Sjögren's syndrome may be challenging to the attending pediatric dentist, and long-term management without proper ...
Hao Jingwen - - 2012
Sheehan's syndrome, which is pituitary necrosis after severe postpartum hemorrhage and hypovolemia, may cause hypopituitarism immediately or several years later, depending on the degree of tissue destruction. We report an unusual case, in which a 55-year-old woman with Sheehan's syndrome got worse symptoms after spontaneous labor. In 1998, she had ...
Gulec U Kucukgoz - - 2012
To evaluate the impact of gestational age on clinical laboratory findings and maternal-perinatal outcomes in patients with HELLP syndrome. A retrospective review of 74 patients with HELLP syndrome between January 2007 and October 2010 was performed. Data were stratified into two groups by gestational age at the onset of disease: ...
Robalo Raquel - - 2012
Sheehan's syndrome occurs as a result of ischaemic pituitary necrosis due to severe postpartum haemorrhage. Improvements in obstetrical care have significantly reduced its incidence in developed countries, but postpartum pituitary infarction remains a common cause of hypopituitarism in developing countries. We report a case of severe postpartum haemorrhage followed by ...
Cereda Anna - - 2012
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated ...
Oliver Kate E KE Prenatal Assessment Center, Department of Obstetrics and Gynecology, Walter Reed National Military Medical Center, 8901 Wisconsin Avenue, Bethesda, MD 20889, - - 2012
Maternal mirror syndrome is a rare consequence of fetal hydrops. By convention, delivery is recommended in pregnancies complicated by mirror syndrome due to grave fetal prognosis. We describe a case of a dichorionic, diamniotic twin gestation complicated by hydrops fetalis of twin B. The patient declined selective feticide. Two weeks ...
Nørgaard Pernille P Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hvidovre Hospital, University of - - 2012
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare condition with an approximate prevalence of 1 per 1 million newborns. We add the first report on prenatal 2D and 3D ultrasound findings in CAN. In addition we present the postnatal 3D CT findings. The diagnosis was confirmed by molecular ...
Pehere Niranjan - - 2011
Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements. Herein, we report two siblings with posterior microphthalmos retinopathy syndrome with postulated autosomal recessive mode of inheritance. A 13-year-old child had PM and ...
Kohannim Omid - - 2011
Streptococcal toxic shock syndrome is a potentially lethal condition with an increasing incidence over the last 30 years. We present the case of a 55-year-old patient with signs and symptoms of streptococcal toxic shock syndrome. This patient's presentation was unique in that it was followed by an accumulation of fluid ...
Kalra Ankur - - 2011
Bone cement implantation syndrome (BCIS) is a rare but potentially fatal intraoperative complication that occurs in patients undergoing cemented orthopedic surgeries. Lack of a robust definition of the syndrome due to rarity of the condition has probably contributed to under reporting of cases. We report a case of a 72-year-old ...
Marik Paul E - - 2011
PURPOSE OF REVIEW: Pulmonary aspiration syndromes are a common cause of morbidity and mortality. These syndromes are often misdiagnosed and their management is frequently suboptimal. This paper reviews the clinical features and management of the most common aspiration syndromes. RECENT FINDINGS: Pulmonary aspiration syndromes refer to a group of pulmonary ...
Nair Anjana - - 2011
Posterior reversible encephalopathy syndrome (PRES) in sickle cell patients has been rarely reported previously in the setting of severe crisis or uncontrolled hypertension. Here, we report a rare and unusual case of recurrent PRES in a young adult sickle cell patient without any obvious precipitating factors.
Malik Archana - - 2011
A 52-year-old female of Asian Indian origin underwent uncomplicated phacoemulsification with insertion of a foldable hydrophilic acrylic single-piece intraocular lens which resulted in good postoperative vision. Five weeks later she presented with decreased vision and examination revealed fibrosis as well as phimosis of the anterior capsular opening. Surgical capsulotomy was ...
Aridon Paolo - - 2011
Thrombotic thrombocytopenic purpura (TTP) is an autoimmune disorder characterised by fever, microangiopathic haemolytic anaemia, renal insufficiency, and thrombocytopenia. Neurological involvement, a prominent component of TTP, is characterised by a variety of brain lesions which include reversible cerebral oedema or magnetic resonance imaging (MRI) features of reversible posterior leukoencephalopathy syndrome (RPLS). ...
Petrovic Bojan D - - 2011
Posterior reversible encephalopathy syndrome (PRES) and venous thrombosis are frequently encountered first in the emergency setting and share some common characteristics. The clinical presentation in both entities is vague, and the brain parenchymal findings of PRES syndrome may resemble those of venous thrombosis in some ways. Both entities often occur ...
Choh Naseer A - - 2011
The posterior reversible encephalopathy syndrome (PRES) is characterized by patchy cortical and subcortical lesions in the distribution of the posterior circulation. The lesions are classically reversible. This syndrome has multiple etiologies, most of which cause acute hypertension. We present a case of PRES with involvement of the medulla and cervical ...
Antonio Imelda Digna Soberano ID Department of Medicine, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines. - - 2011
The diagnosis of endogenous Cushing's syndrome and its aetiology involved documenting the hypercotisolism and then determining whether that hypercortisolism is adrenocorticotropic hormone-dependent (ACTH-dependent) or not. Hence, following the algorithm, an undetected ACTH level points to an adrenal Cushing's while a detectable or elevated ACTH level points to either a pituitary ...
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