Isolated imperforate anus in monozygotic twins: case report and implications

Kubiak, Rainer; Upadhyay, Vipul

doi:10.1016/j.jpedsurg.2004.11.002

Cited by 17 publications

(11 citation statements)

References 23 publications

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“…Concordance of ARM in monozygous twins has been reported [15] as well as 19 families with 2 or more sibs having isolated ARM. In some families, there were additional affected members from other generations, and all modes of inheritance (mendelian and multifactorial) have been put forward as the cause [16].…”

Section: Discussionmentioning

confidence: 97%

Stability of prevalence rates of anorectal malformations in the Alberta Congenital Anomalies Surveillance System 1990-2004

Lowry

Sibbald

Bedard

2007

Journal of Pediatric Surgery

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Section: Discussionmentioning

confidence: 97%

Stability of prevalence rates of anorectal malformations in the Alberta Congenital Anomalies Surveillance System 1990-2004

Lowry

Sibbald

Bedard

2007

Journal of Pediatric Surgery

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“…Urine production by the normal cotwin protects the affected MC,MA twin from developing Potter syndrome [Klinger et al, 1997;LiVoti et al, 1998;Perez-Brayfield et al, 1998]. Imperforate anus in discordant MZ twins has been reported [Kubiak and Upadhyay, 2005].…”

Section: Article American Journal Of Medical Genetics Part C (Seminarmentioning

confidence: 99%

Non‐identical monozygotic twins, intermediate twin types, zygosity testing, and the non‐random nature of monozygotic twinning: A review

Machin

2009

American J of Med Genetics Pt C

138

102

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Monozygotic twins (MZ) are rarely absolutely “identical.” This review discusses the types of genetic/epigenetic and prenatal environmental post‐zygotic mechanisms that cause discordance within such twin pairs. Some of these mechanisms—ranging from heterokaryotypia to skewed X‐chromosome inactivation—may cause extreme discordance, but these extremes are merely the more emphatic examples of discordance that, to some degree, underlies the majority of MZ twin pairs. Because of the entrenched misconception that MZ twins are necessarily identical, many MZ twin pairs are mistakenly designated as dizygotic (DZ). Clinical benefits to accurate zygosity determination include correct solid organ transplantation matching, if one twin requires donation for a non‐genetically mediated disease; the opportunity of preventive management for disorders that do not manifest synchronously; and better counseling to parents regarding their individually unique, and often psychologically puzzling, twin offspring. In twin pairs with complex and confusing biological origins, more detailed zygosity testing may be required. For example, intermediate trigametic and tetragametic chimeric dizygotic twins are reviewed, some of whom are, nevertheless, monochorionic (MC). Because of inter‐fetal vascular anastomoses in MC twins, genetic results from blood samples may not accurately reflect discordance in solid organs. Previously, it was thought that MZ twinning was some sort of embryological fluke. However, familial monozygotic twinning is more common than suggested by the literature. Seven new families are presented in an accompanying paper. Despite the difficulties and dangers of twin pregnancy (especially so for MC twins), human twinning persists, and continues to both challenge and fascinate parents, clinicians and geneticists. © 2009 Wiley‐Liss, Inc.

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“…As early as the 1950s, it was recognized that there was an increased risk for a sibling of a patient with ARM to be born with a malformation, as much as 1 in 100, compared with the incidence of about 1 in 5000 in the general population [1]. Since that time, there have been many reports describing families with 2 or more affected members and associations of ARMs with multisystem syndromes [2,3]. In particular, mutations in specific genes encoding transcription factors have been described in patients having Townes-Brocks syndrome [4,5], Currarino's syndrome [6,7], and Pallister-Hall syndrome [8,9], each of which have autosomal dominant modes of inheritance.…”

mentioning

confidence: 99%