Anal atresia | Page 6

Yvon Chitrit, Edith Vuillard, Sunavy Khung, Nadia Belarbi, Fabien Guimiot, Francoise Muller, Alaa El Ghoneimi, Jean Francois Oury
Objective Describe a case of cloaca prenatally diagnosed in one of a set of monoamniotic twins. Study Design Retrospective review of a case. Results Cloaca is one of the most complex and severe degrees of anorectal malformations in girls. We present a discordant cloaca in monoamniotic twins. Fetal ultrasound showed a female fetus with a pelvic midline cystic mass, a phallus-like structure, a probable anorectal atresia with absence of anal dimple and a flat perineum, and renal anomalies. The diagnosis was confirmed by fetal magnetic resonance imaging postnatally...
May 2014: American Journal of Perinatology Reports
Victor M Salinas-Torres, Nicolás Pérez-García, Guillermo Pérez-García
In this series the authors evaluate clinical, cytogenetic, environmental and inheritance characteristics of neonates with VACTERL association. Twenty-six patients were diagnosed with VACTERL association and had a normal somatometric profile. Fifty-eight percent cases were males. The frequency of each component was: vertebral defects (V), 77 %; anal atresia (A), 62 %; tracheo-esophageal fistula/esophageal atresia (TEF/EA), 58 %; renal anomalies (R), 58 %; limb abnormalities (L), 50 %, and cardiac malformations (C), 42 %...
January 2015: Indian Journal of Pediatrics
Emilio Fernandez, Andrea Bischoff, Belinda H Dickie, Jason Frischer, Jennifer Hall, Alberto Peña
PURPOSE: The presence of esophageal atresia (EA) in patients with an anorectal malformation (ARM) is well known. The purpose of this work is to find out the most common type of ARM associated to EA and the functional prognostic implication of this association, which has not been described in previous publications. METHODS: We reviewed our database for demographic, functional, and associated anomalies data in our patients with EA and ARM, and then compared them with those of our general series of ARM without esophageal atresia...
August 2014: Pediatric Surgery International
Erwin Brosens, Mirjam Ploeg, Yolande van Bever, Anna E Koopmans, Hanneke IJsselstijn, Robbert J Rottier, Rene Wijnen, Dick Tibboel, Annelies de Klein
Esophageal Atresia (EA) is a severe developmental defect of the foregut that presents with or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and around the world has been relatively stable. EA/TEF is manifested in a broad spectrum of anomalies: in some patients it manifests as an isolated atresia or fistula, but in over half it affects several organ systems. While the associated malformations are often those of the VACTERL spectrum (Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal and Limb), many patients are affected by other malformations, such as microcephaly, micrognathia, pyloric stenosis, duodenal atresia, a single umbilical artery, and anomalies of the genitourinary, respiratory and gastrointestinal systems...
August 2014: European Journal of Medical Genetics
Judith M A Verhagen, Wilma Oostdijk, Cecilia E J Terwisscha van Scheltinga, Nicoline E Schalij-Delfos, Yolande van Bever
Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis...
September 2014: European Journal of Medical Genetics
Max Herby Derenoncourt, Gerard Baltazar, Tamar Lubell, Alice Ruscica, Cyril Sahyoun, Francisca Velcek
INTRODUCTION: Colonic atresia and anorectal malformation are rare congenital anomalies individually. Few reports of the conditions combined in a single patient have been published in the literature. Neither colonic atresia, anorectal malformation or a combination of the disorders has previously been reported in the Haitian population. CASE PRESENTATION: A 5-day-old female presented with feculent emesis, failure to pass stool since birth and an imperforate and stenotic anus...
2014: SpringerPlus
Ana Catarina Fragoso, Juan A Tovar
Esophageal atresia with or without tracheoesophageal fistula (EA ± TEF) occurs in 1 out of every 3000 births. Current survival approaches 95%, and research is therefore focused on morbidity and health-related quality of life issues. Up to 50% of neonates with EA ± TEF have one or more additional malformations including those of the respiratory tract that occur in a relatively high proportion of them and particularly of those with vertebral, anal, cardiac, tracheoesophageal, renal, and limb association...
2014: Frontiers in Pediatrics
Sundeep Kisku, Ravi Kishore Barla, Sudipta Sen, Sampath Karl, John Mathai, Lilly Varghese
BACKGROUND: Rectovestibular fistula with coexisting vaginal atresia poses a surgical dilemma with regard to the timing and type of reconstruction. We present our experience and suggest an appropriate course of management. METHODS: Seven patients with rectovestibular fistula and coexisting vestibular atresia were operated in our hospital during January 2004 through December 2013. The details of their bowel, menstrual and sexual functions were recorded. RESULTS: Five of the seven patients who underwent anoplasty in childhood presented to us in their teens with primary amenorrhea and cyclical abdominal pain...
June 2014: Pediatric Surgery International
Sara Erol, Ayşegül Zenciroğlu, Dilek Dilli, Nurullah Okumuş, Mustafa Aydin, Neşe Göl, Fikriye Erdem, Gönül Tanir
BACKGROUND: Nosocomial blood stream infections (NBSI) are a significant hazard in health care facilities, exacting a tremendous toll and causing increased morbidity, mortality, and increased length of hospital stay and health care costs. METHODS: In this article, we report the results of a retrospective cohort study to describe the epidemiology of pseudomonas NBSI in infants admitted to one Turkish neonatal intensive care unit (NICU) during the 5-year period 2006-2010...
2014: Clinical Laboratory
Bengt Källén, Birgitta Norstedt Wikner
Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996-2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis...
2014: Journal of Thyroid Research
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne-Lise Delezoide, Chloé Quélin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Megarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, Joëlle Roume, Bertrand Isidor, Didier Lacombe, Marie-Ange Delrue, Sandra Mercier, Nicole Philip, Elise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaelle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux-Coeslier, Marie-Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent-Delorme, Marie-Liesse Chauvet, Valérie Cormier-Daire, Louise Devisme, David Geneviève, Arnold Munnich, Géraldine Viot, Odile Raoul, Serge Romana, Marie Gonzales, Ferechte Encha-Razavi, Sylvie Odent, Michel Vekemans, Tania Attie-Bitach
The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). PHS was first described as a lethal condition associating hypothalamic hamartoma, postaxial or central polydactyly, anal atresia and bifid epiglottis. Typical GCPS combines polysyndactyly of hands and feet and craniofacial features. Genotype-phenotype correlations have been found both for the location and the nature of GLI3 mutations, highlighting the bifunctional nature of GLI3 during development...
January 2015: European Journal of Human Genetics: EJHG
Yvonne Schulz, Luisa Freese, Johanna Mänz, Barbara Zoll, Christiane Völter, Knut Brockmann, Nina Bögershausen, Jutta Becker, Bernd Wollnik, Silke Pauli
CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with developmental delay, short stature, prominent digit pads and visceral abnormalities. Mutations in the KMT2D gene, which encodes a H3K4 histone methyltransferase, are the major cause of Kabuki syndrome. Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and conductive hearing impairment...
August 15, 2014: Human Molecular Genetics
Fubin Yang, Mao Sheng, Jian Wang, Wanliang Guo, Qi Wang, Xiao Han
OBJECTIVE: To investigate the clinical value of MRI examination in congenital anorectal malformation (CARM). METHOD: Forty-four cases with operatively proved anorectal malformation from May 2008 to May 2012 in the authors' hospital were reviewed. Of the 44 cases, 25 were males and 19 females, their age ranged from 1 day to 2 years. MRI was performed in all patients. RESULT: Of all 44 cases, 15 cases had high imperforate anus (34%), rectum blind end were above PC line, the distance of rectum blind end and anus nest was (29...
January 2014: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Carolina M Valdez, Stephan P L Altmayer, McArthur A Barrow, Jorge A B Telles, Rosilene da S Betat, Paulo R G Zen, Rafael F M Rosa
The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo-auriculo-vertebral spectrum and Edwards syndrome (trisomy 18). DK-phocomelia is a rare syndrome characterized by both findings. However, Froster-Iskenius and Meinecke [1992, Clin Dysmorphol 1: 37-41] and Kunze et al. [1992, Eur J Pediatr 151: 467-468] reported patients presenting similar malformations. We proposed, through the description of an additional case, that these last patients present the same condition and thus represent a new syndrome...
May 2014: American Journal of Medical Genetics. Part A
Banu Dane, Zeynep Kayaoğlu, Cem Dane, Figen Aksoy
We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect, anal atresia, narrowing of the duodenal lumen and unilateral renal agenesis at the end of the second trimester. These abnormalities were characteristic of autosomal recessive VACTERL-H syndrome. The second case was diagnosed to have absent radii and thumbs at 11 weeks. Detailed examination of fetal limbs in the first trimester screening in cases with high risk is useful for early detection of this malformation...
2011: Journal of the Turkish German Gynecological Association
S Padma, P Shanmuga Sundaram, Bhavya Sonik
VACTERL is a cluster of congenital malformations based on the non-random association of various congenital malformations in a single patient. Here "V" denotes vertebral defects or vascular anomalies (single umbilical artery), "A" anal atresia, "C" cardiac abnormalities, "TE" tracheoesophageal fistula, "R"renal (kidney) abnormalities and "L" for limb anomalies) It is called an association, rather than a syndrome because the complications are not pathogenetically related, tend to occur more frequently than expected and are thought to be linked to embryonic mesodermal defects...
January 2014: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
María Soledad Andersen, Sebastián Menazzi, Paloma Brun, Cecilia Cocah, Giuseppe Merla, Andrea Solari
Kabuki syndrome is a genetic entity with multiple anomalies associated with intellectual disability. The clinical diagnosis is based on typical facial features, minor skeletal abnormalities, finger pads, and postnatal growth deficit. Other findings may include congenital heart disease, genitourinary anomalies, oral clefts, anal atresia, increased susceptibility to infections, autoimmune and endocrine disease and hearing loss. The objective of this paper is to describe two patients with clinical diagnosis of Kabuki syndrome, highlighting the phenotypic findings and associated malformations...
February 2014: Archivos Argentinos de Pediatría
Baobiao Zhuo, Hongwei Zhang, Yiyu Yin, Tongsheng Ma, Fengli Liu, Hui Cao, Huaxin Zou
OBJECTIVE: To explore the value of rectal mucosa stripping and pull-through from rectal muscle sheath of blind pouch in the treatment of congenital high anal atresia in the newborn. METHODS: Clinical data of 232 newborns diagnosed as congenital high anal atresia undergoing operation from January 2001 to December 2010 were retrospectively analyzed. Among these patients, 168 underwent rectal mucosa stripping and pull-through from rectal muscle sheath of blind pouch through the previous of sagittal approach (intrathecal pull-through group), and 64 cases underwent the Pena procedure (Pena group)...
January 2014: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
Amar Taksande, Krishna Vilhekar
Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis...
January 2013: Journal of Family Medicine and Primary Care
Bing Li, Wei-bing Chen, Shou-qing Wang, Ye-bo Wang
PURPOSE: Laparoscopic procedures involving a neonatal annular pancreas have only been sporadically reported in the literature. We herein present our initial experience with an annular pancreas in newborns treated via a laparoscopic approach. METHODS: A retrospective review of the laparoscopic methods used for an annular pancreas in 11 neonates from September 2009 to April 2013 was performed. Among the patients, seven were male and four were female. The age of the patients ranged from 1 to 13 days (mean 4...
January 2015: Surgery Today
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