High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

R Belanger Deloge, X Zhao, PN Luna… - European Journal of …, 2023 - nature.com
Evidence suggests that genetic factors contribute to the development of anorectal
malformations (ARMs). However, the etiology of the majority of ARMs cases remains …

[HTML][HTML] The role of de novo variants in formation of human anorectal malformations

GC Dworschak, IALM van Rooij, HM Reutter - Genes, 2021 - mdpi.com
Anorectal malformations (ARM) represent a rare birth defect of the hindgut that occur in
approximately 1 in 3000 live births. Around 60% of ARM occur with associated anomalies …

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review

CHW Wijers, IALM van Rooij… - … Research Part C …, 2014 - Wiley Online Library
Congenital anorectal malformations (ARMs) are one of the most frequently observed birth
defects of the digestive system. However, their etiology remains elusive. Therefore, we aim …

[HTML][HTML] Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

GC Dworschak, N Zwink, E Schmiedeke… - Orphanet Journal of …, 2017 - Springer
Background Anorectal malformations (ARM) are rare abnormalities that occur in
approximately 1 in 3000 live births with around 40% of patients presenting with isolated …

Chromosomal anomalies in the etiology of anorectal malformations: a review

C Marcelis, I de Blaauw… - American Journal of …, 2011 - Wiley Online Library
Anorectal malformation (ARM) is a severe congenital anomaly that can occur either isolated
or in association with other congenital abnormalities. It has a heterogeneous etiology with …

Associations of anorectal malformations and related syndromes

SW Moore - Pediatric surgery international, 2013 - Springer
Anorectal malformations (ARMs) represent a complex group of congenital anomalies
resulting from abnormal development of the hindgut, allantois and Mullerian duct resulting in …

[HTML][HTML] Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence …

CHW Wijers, I De Blaauw, CLM Marcelis… - Pediatric surgery …, 2010 - Springer
Abstract Purpose The recently established International Consortium on Anorectal
Malformations aims to identify genetic and environmental risk factors in the etiology of …

A genealogical assessment of familial clustering of anorectal malformations

CC Teerlink, R Bernhisel, LA Cannon-Albright… - Journal of Human …, 2018 - nature.com
Familial recurrence of anorectal malformations (ARMs) has been reported in single
institution case series and in two population-based studies. Here, we investigate the familial …

[HTML][HTML] The importance of screening for additional anomalies in patients with anorectal malformations: a retrospective cohort study

CMC de Beaufort, ACM van den Akker… - Journal of Pediatric …, 2023 - Elsevier
Background In children with anorectal malformations (ARM), additional anomalies can occur
within the VACTERL-association. Routine screening is of great importance for early …

[PDF][PDF] Genetics of anorectal malformation

G Martucciello - Anorectal malformations in children, 2006 - ndl.ethernet.edu.et
Anorectal malformations (ARM) present an incidence rate ranging from 1: 1,500 to 1: 5,000
live births [18, 19, 41, 49, 52, 53, 61, 109, 110, 112], and have variable clinical presentations …