Results 21 to 30 of about 9,985 (213)

VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect) spectrum presenting with portal hypertension: a case report [PDF]

, 2012
RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Bhurtel, Dilli Raj, Losa, Ignatius
core   +2 more sources

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report. [PDF]

Case Rep Pediatr
We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Saul R, David M, Frasch J, Sanchez-Lara PA, Schweiger BM.   +4 more
europepmc   +2 more sources

The Exstrophy-epispadias complex [PDF]

, 2009
Exstrophy-epispadias complex ( EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias ( E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC).
Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig, Wolfgang H Rösch, JP Gearhart, SA Boyadjiev, Anonymous, AH Bennet, E Ives, L Allen, L Gambhir, LM James, P Yang, ML Martinez-Frias, CP Nelson, AR Caton, BM Harvard, CC Higgins, RD Jeffs, RT Soper, AB Belman, JC Carey, RS Hurwitz, CA Moore, KM Keppler-Noreuil, KM Keppler-Noreuil, WH Rösch, W Rösch, JM Schober, CRJ Woodhouse, EC Muecke, PF Austin, SC Van der Putte, JV Thomalla, LJ Russell, WB Greene, KL Jones, H Mildenberger, C Vermeij-Keers, X Wei, X Wei, JF Van der Werff, S Beaudoin, GC Vedel-Macrander, J Männer, W Cheng, TA Ince, EJ Messelink, H Reutter, E Shapiro, H Reutter, M Ludwig, CO Carter, M Ludwig, H Reutter, H Reutter, N Risch, NM Smith, C Thauvin-Robinet, H Reutter, JS Nye, B Utsch, M Seri, J Hipp, R Byron-Scott, J Wood, M Jordan, MR Wakefield, NH Robin, MG Pinette, LA Lizcano-Gil, IM Orioli, F Mollica, AL Shanske, HM Wood, HM Wood, E Yokoyama, AA Stec, PD Sponseller, JP Gearhart, RI Silver, AK Ebert, RI Mathews, BR Lee, R Mathews, M Della Monica, WJ Cromie, TH Diseth, DA Diamond, PDE Mouriquand, M Baka-Jakubiak, P Cuckow, RW Grady, ME Mitchell, WH Rösch, KM Schrott, R Stein, S Pahernik, R Stein, PG Ransley, R Stein, CR Woodhouse, PC Gargollo, JP Gearhart, T Burki, A Schröder, CRJ Woodhouse, J Ben-Chaim, A Ebert, RI Mathews, C Lee, A Ebert, TE Novack, N Smeulders, JM Rieder   +114 more
core   +1 more source

Double Atresia of the Hindgut with Ileal Stenosis: A Case Report

Asian Journal of Surgery, 2004
An unusual case of imperforate anus with sigmoid colonic atresia and ileal stenosis is described. Only six cases of imperforate anus associated with colonic atresia have previously been reported in Japan.
Koushi Asabe, Akira Nagasaki
doaj   +1 more source

Isolated imperforate anus in dizygotic twins

Journal of Pediatric Surgery Case Reports, 2023
The authors report an isolated imperforate anus case in a dizygotic twin, which is the first reported case in the literature, the other reported cases were in monozygotic twins.
Dania Alameh, Hanin Shatrit, Mariam Thalji, Asil Yagmour, Motee Abuawaad   +4 more
doaj   +1 more source

Establishing disability weights for congenital pediatric surgical conditions: A multi-modal approach [PDF]

, 2017
__Background:__ Burden of disease (BoD) as measured by Disability-Adjusted Life Years (DALYs) is one of the criteria for priority-setting in health care resource allocation.
Cameron, B.H., Frankfurter, C., Pemberton, J., Poenaru, D. (Dan), Stolk, E.A. (Elly)   +4 more
core   +5 more sources

Prenatal diagnosis of congenital megalourethra with imperforate anus

BMC Pediatrics, 2019
Background Congenital megalourethra is a rare prenatal finding while prenatal diagnosis of imperforate anus poses high challenge. This is the first prenatally ultrasound diagnosed case which had congenital megalourethra and imperforate anus.
An-Shine Chao, Yao-Lung Chang, Peter Ching-Chang Hsieh   +2 more
doaj   +1 more source

A Fetus with Imperforate Anus Developing Pulmonary Hypoplasia Triggered by Transient Urethral Obstruction

Case Reports in Obstetrics and Gynecology, 2021
Pulmonary hypoplasia is a rare entity in a fetus with imperforate anus. The fetus was diagnosed with high-type imperforate anus with rectourethral fistula based on the dilated fetal bowel and the presence of bowel calcification at 19 weeks of gestation ...
Masatake Toshimitsu, Takayuki Iriyama, Seisuke Sayama, Kan Suzuki, Satsuki Kakiuchi, Mari Ichinose, Takahiro Seyama, Kenbun Sone, Keiichi Kumasawa, Takeshi Nagamatsu, Tomoyuki Fujii, Yutaka Osuga   +11 more
doaj   +1 more source

Clinical and manometric postoperative evaluation of posterior sagital anorectoplasty (PSARP) in patients with upper and intermediate anorectal malformations [PDF]

, 1996
PSARP is currently the most widely-used surgical technique for surgical correction of high and intermediary anorectal malformations, but there is much controversy in the literature about the postoperative evaluation of these cases. We studied 27 cases of
Martins, Jose Luiz, Pinus, José
core   +2 more sources

Imperforate hymen causing congenital hydrometrocolpos. [PDF]

, 2013
A 3-day-old girl in good health was referred to our department for the evaluation of an abdominal mass detected at birth. Prenatal ultrasound (US) examinations had shown no anomaly.
CIGLIANO, BRUNO, V. Vitale, VALLONE, GIANFRANCO   +2 more
core   +1 more source