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Anal atresia

Jeylan El Mansoury, Joyce N Mbekeani
PURPOSE: To report the late recognition of a case oculo-auriculo-vertebral spectrum (OAVS). CASE REPORT: A 14-year-old male patient with a history of spinal scoliosis and anal atresia presented with a right ocular growth that was increasing in size and causing irritation. He was discovered to have a right limbal dermoid and forniceal lipodermoid. All visual functions were normal and the rest of the anterior and posterior segments were unremarkable. External examination revealed facial asymmetry and ipsilateral hemifacial microsomia and a pre-auricular skin tag...
October 13, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Naimeh Farhidnia, Azadeh Memarian
We described a neonate with severe and multiple abnormalities following use of isotretinoin, in spite of the mother's previous knowledge of drug complications. Initial physical examination after delivery showed congenital absence of both eyes and both auricles as well as anal atresia and a cleft palate. Due to severe respiratory distress and atresia of the anus, the neonate was admitted to a neonatal intensive care unit and underwent reconstructive surgery. The drug should not have been used during pregnancy...
September 8, 2016: Medico-legal Journal
Xiao-Yan Gao, Ping-Ming Gao, Shi-Guang Wu, Zhi-Guang Mai, Jie Zhou, Run-Zhong Huang, Shui-Tang Zhang, Huan-Qiong Zhong, You-Ming Liao, Ai-Min Zhang, Tie-Jun Liao, Wei-Zhong Guo, Xue-Jun Pan, Min-Yi Pan, Hou-Lan Xiao, Jin-Lin Zhu, Long-Yao Wu, Zu-Lin Huang
OBJECTIVE: To investigate the risk factors for the development of congenital anal atresia in neonates. METHODS: A total of 70 neonates who were admitted to 17 hospitals in Foshan, China from January 2011 to December 2014 were enrolled as case group, and another 70 neonates who were hospitalized during the same period and had no anal atresia or other severe deformities were enrolled as control group. Univariate and multivariate logistic regression analyses were used to investigate the risk factors for the development of congenital anal atresia...
June 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
E Garne, A Vinkel Hansen, J Morris, S Jordan, K Klungsøyr, A Engeland, D Tucker, D S Thayer, G I Davies, A-M Nybo Andersen, H Dolk
OBJECTIVE: To examine the effect of maternal exposure to asthma medications on the risk of congenital anomalies. DESIGN: Meta-analysis of aggregated data from three cohort studies. SETTING: Linkage between healthcare databases and EUROCAT congenital anomaly registries. POPULATION: 519 242 pregnancies in Norway (2004-2010), Wales (2000-2010) and Funen, Denmark (2000-2010). METHODS: Exposure defined as having at least one prescription for asthma medications issued (Wales) or dispensed (Norway, Denmark) from 91 days before to 91 days after the pregnancy start date...
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Michael Rudolf Mallmann, Heiko Reutter, Annette Margarete Müller, Annegret Geipel, Christoph Berg, Ulrich Gembruch
OBJECTIVE: The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare variant of the bladder exstrophy epispadias complex with in most cases unknown etiology. Due to the rarity of the disease, no large series exist that describe the prenatal spectrum of disease or additional malformations. METHODS: In this study, we present the prenatal findings in a series of 12 cases. RESULTS: All fetuses showed exstrophy of the bladder, 9/12 omphalocele, 9/12 anal atresia, 10/12 neural tube defects, 4/12 vertebral defects, 5/12 lower extremity defects including clubfeet, and 4/12 a single umbilical artery...
May 5, 2016: Fetal Diagnosis and Therapy
Yixin Chen, Zhenlei Liu, Jia Chen, Yuzhi Zuo, Sen Liu, Weisheng Chen, Gang Liu, Guixing Qiu, Philip F Giampietro, Nan Wu, Zhihong Wu
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60-95% of all VACTERL patients...
July 2016: Journal of Medical Genetics
Sevgi Buyukbese Sarsu, Mehmet Ergun Parmaksiz, Esra Cabalar, Ali Karapur, Cihat Kaya
Currarino syndrome (triad) is an extremely rare condition characterized by presacral mass, anorectal malformation, and sacral bone deformation. The complete form of this syndrome displays all three irregularities. Herein, we report a male case who was admitted to our hospital with symptoms of urinary system infection and persistent constipation 2 years after colostomy operation performed with the indication of rectovestibular fistula and anal atresia, diagnosed as Currarino syndrome based on imaging modalities...
May 2016: Journal of Clinical Medicine Research
Blanche P Alter, Neelam Giri
VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL-H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL-H is unknown. We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL-H, including imaging studies (radiology and ultrasound)...
June 2016: American Journal of Medical Genetics. Part A
Danitza Velazquez, Elaine Pereira, Thomas Havranek
VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies...
March 2016: American Journal of Perinatology Reports
V A Lane, R J Wood, C Reck, C Skerritt, M A Levitt
Rectal atresia and anal stenosis are rare forms of anorectal malformations. The aim of the definitive surgical repair in such cases is to preserve the anal canal, the dentate line, and the sphincter complex. We present a case of rectal atresia and anal stenosis to demonstrate the differences in the operative repair. The techniques described leave the anterior wall of the very distal anal canal untouched in both rectal stenosis and anal atresia; however, the dissection of the rectum differs. The atretic rectum in rectal atresia is mobilized and sutured to the anal canal circumferentially...
April 2016: Techniques in Coloproctology
Surasak Puvabanditsin, James Van Gurp, Melissa February, Marwa Khalil, Julia Mayne, Jennifer Ai McConnell, Rajeev Mehta
We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.
2016: Fetal and Pediatric Pathology
Margot R F Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M Mancini, Rolph Pfundt, Ka Man Wu, Conny M A van Ravenswaaij-Arts, Hermine E Veenstra-Knol, Britt-Marie M Anderlid, Stephen A Wood, Sau Wai Cheung, Angela Barnicoat, Frank Probst, Pilar Magoulas, Alice S Brooks, Helena Malmgren, Arja Harila-Saari, Carlo M Marcelis, Maaike Vreeburg, Emma Hobson, V Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Hwei Meeng Lai, Deepti Domingo, Bruno Reversade, Jozef Gecz, Christian Gilissen, Han G Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities...
February 4, 2016: American Journal of Human Genetics
Mudassir Hussain, Shah Muhammad, Muhammad Arsalan Khan, Muhammad Manzoor
Imperforate anus is a rare anomaly associated with defects commonly referred to as vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities (VACTERL). With modern surgical procedures the overall outcome is excellent. Permanent colostomy which is required in some cases of this disease can result in some rare complications such as enteroliths formation, as illustrated in the case we are presenting here related to a 28-year-old male who reported at urology emergency with features of urinary and acute large bowel obstruction...
December 2015: JPMA. the Journal of the Pakistan Medical Association
Jamie K Overbey, Alexander A Kon
BACKGROUND: In 2007, an update was released to the pediatric and neonatal septic shock guidelines, which emphasized early use of therapies, specifically, first-hour fluid resuscitation and inotrope therapy. This has led to increased use of intraosseous (IO) access as a source of vascular access. Previously, IO access could be obtained only via a manual IO placement. New semi-automatic devices, such as EZ-IO(®) (Vidacare, Shavano Park, TX), allow for safer and quicker IO access. Data support the use of semi-automatic devices during the acute resuscitation period...
January 2016: Journal of Emergency Medicine
Hidehiko Maruyama, Takeshi Inagaki, Yusei Nakata, Akane Kanazawa, Yuka Iwasaki, Kiyoshi Sasaki, Ryuhei Nagai, Hiromi Kinoshita, Jun Iwata, Kiyoshi Kikkawa
Introduction This report will discuss a case of minimally conjoined omphalopagus twins (MCOTs) with a body stalk anomaly (BSA). Case Report We experienced monochorionic diamniotic (MD) twins born at 31 weeks. One infant was suspicious of BSA before birth, and another infant was normal. But normal infant had anal atresia with small intestine which was inserted behind the umbilicus. Twins had very short common umbilicus and infant with BSA had intestinal conjunction, two appendixes at the site of the colon, and a blind-ending colon...
October 2015: American Journal of Perinatology Reports
Victor M Salinas-Torres
In 1981, Casamassima and colleagues described an autosomal recessive syndrome of spondylocostal dysostosis associated with anal and urogenital anomalies. Here, I describe 1 new fetus who presented with limb-body wall defect as a novel association, compile 7 patients, and review the clinical phenotype of Casamassima-Morton-Nance syndrome. This appears to be the 1st Casamassima-Morton-Nance syndrome fetus with this complex malformation. In light of this manifestation, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with significant clinical variability...
March 2016: Pediatric and Developmental Pathology
Tatsuma Sakaguchi, Yoshinori Hamada, Kouji Masumoto, Tomoaki Taguchi
PURPOSE: To clarify the status of segmental dilatation of the intestine (SD) using a nationwide retrospective cohort survey. METHODS: Supported by the Ministry of Health, Labour and Welfare in Japan, preliminary questionnaires requesting the numbers of SD cases from 2000 to 2009 were sent to 161 Japanese major institutes of pediatric surgery and gastroenterology. We present the results of our analysis of the data from secondary questionnaires. RESULTS: Twenty-eight cases of SD were reported, including 19 males and 9 females...
November 2015: Pediatric Surgery International
Alina C Hilger, Jan Halbritter, Tracie Pennimpede, Amelie van der Ven, Georgia Sarma, Daniela A Braun, Jonathan D Porath, Stefan Kohl, Daw-Yang Hwang, Gabriel C Dworschak, Bernhard G Hermann, Anna Pavlova, Osman El-Maarri, Markus M Nöthen, Michael Ludwig, Heiko Reutter, Friedhelm Hildebrandt
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in diseases related to VATER/VACTERL, we performed targeted resequencing of 25 ciliary candidate genes as well as disease-associated genes (FOXF1, HOXD13, PTEN, ZIC3) in 123 patients with VATER/VACTERL or VATER/VACTERL-like phenotype...
December 2015: Human Mutation
Ester Garne, Anne Vinkel Hansen, Joan Morris, Louise Zaupper, Marie-Claude Addor, Ingeborg Barisic, Miriam Gatt, Nathalie Lelong, Kari Klungsøyr, Mary O'Mahony, Vera Nelen, Amanda J Neville, Anna Pierini, David Tucker, Hermien de Walle, Awi Wiesel, Maria Loane, Helen Dolk
BACKGROUND: Pregnant women with asthma need to take medication during pregnancy. OBJECTIVE: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy. METHODS: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations...
December 2015: Journal of Allergy and Clinical Immunology
Monica Kumar, Laura Ray, Sudha Vemuri, Teresa A Simon
OBJECTIVE: To characterize pregnancy outcomes following maternal and paternal exposure to abatacept, using clinical trial and post-marketing data available to the manufacturer. METHODS: All confirmed cases of pregnancy with outcome data reported to the manufacturer up to September 1, 2014 were included. Sources included clinical trials, spontaneously reported (unsolicited) post-marketing cases, and the Organization of Teratology Information Specialists registry...
December 2015: Seminars in Arthritis and Rheumatism
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