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 …

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 …

Increased heritability of certain types of anorectal malformations

RA Falcone Jr, MA Levitt, A Peña, M Bates - Journal of pediatric surgery, 2007 - Elsevier
PURPOSE: Various lines of evidence point to genetic causes for the diverse spectrum of
anorectal malformations (ARMs); we therefore studied patterns of heritability in a large case …

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 …

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 …

Associated malformations in patients with anorectal anomalies

C Stoll, Y Alembik, B Dott, MP Roth - European journal of medical genetics, 2007 - Elsevier
Patients with congenital anorectal malformations (ARM) often have other associated
congenital defects. The reported incidence and the types of associated malformations vary …

Genome-wide copy number variation study in anorectal malformations

EHM Wong, L Cui, CL Ng, CSM Tang… - Human molecular …, 2013 - academic.oup.com
Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the
most common birth defects requiring surgical treatment (2–5/10 000 live-births) and carry …

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 …

[PDF][PDF] Syndromology of anorectal malformations revisited: from patterns of associated malformations to the recognition of syndromes

S Berger, M Goppl, Z Zachariou - World J Pediatr, 2005 - wjpch.com
Background-. Although the frequency of associated malformation is high, the incidence of
inheritable syndromes is widely underestimated in children with anorectal malformation …

Genetics of anorectal malformation

G Martucciello - Anorectal malformations in children, 2006 - books.google.com
25 blastogenesis often involve two or more progenitor fields. This fact may explain the cause
of subgroups of ARM that form part of complex phenotypes due to developmental field …