Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report [PDF]
, 2016 Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early
Bian, F +6 more
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ROENTGENOLOGY OF IMPERFORATE ANUS [PDF]
American Journal of Roentgenology, 1967 Current concepts of the gross pathology and surgical management of imperforate anus are reviewed. A roentgen diagnostic approach based on the experience of others as well as an extensive experience at this institution is suggested which is in keeping with these concepts.Because of the high incidence of associated anomalies in cases of imperforate anus,
openaire +2 more sources
PRIMARY POSTERIOR SAGITTAL ANORECTOPLASTY WITHOUT COLOSTOMY IN NEONATES WITH HIGH IMPERFORATE ANUS [PDF]
Acta Medica Iranica, 2007 The standard approach to management of high imperforate anus is colostomy in the newborn period followed by posterior saggital anorectoplasty (PSARP) at 6 to 12 months of age.
A. Mirshemirani +3 more
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Sexual Function, Fertility and Quality of Life after Modern Treatment of Anorectal Malformations [PDF]
, 2016 Purpose: Sexual dysfunction and impaired quality of life due to fecal incontinence are common after classic operations for anorectal malformations. We hypothesized that modern repairs may result in improved outcomes.
Kyrklund, Kristiina +3 more
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Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
Case Reports in Genetics, 2012 Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay.
Rose H. Mende +3 more
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Maria Polydouri (1902-1930): the Greek poète maudit who died of tuberculosis.
, 2013 Maria Polydouri was a notable Greek poet. Often likened to the French poètes maudits, her poetry reflected a lyrical charisma and her unsettled life an untimely ending.
Kousoulis, Antonis A
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A Novel Surgical Approach for the Management of Cloacal Exstrophy with a Giant Omphalocele
European Journal of Pediatric Surgery Reports, 2021 Cloacal exstrophy is a rare malformation that presents as a lower midline abdominal wall defect which affects the gastrointestinal and genitourinary systems.
Caitlin A. Smith +4 more
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Anorectal malformation associated with a mutation in the P63 gene in a family with split hand–foot malformation [PDF]
, 2013 PURPOSE: The aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand–foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and ...
Pengjun Su +4 more
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Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]
, 2005 This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M. +2 more
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Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
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