Embryology

Golden, James P; Fitzgerald, M. J. T.

doi:10.1016/b978-0-407-00341-5.50013-2

Cited by 10 publications

(11 citation statements)

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“…Boys seem to be at a slightly higher risk than girls (1.3:1) [ 12 ]. It is assumed that the defects occur during the 4th to 8th week of fetal development [ 13 - 18 ]. Current knowledge about the causes, however, is still sparse.…”

Section: Introductionmentioning

confidence: 99%

Parental risk factors and anorectal malformations: systematic review and meta-analysis

Zwink

Jenetzky

Brenner

2011

Orphanet J Rare Dis

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BackgroundAnorectal malformations (ARM) are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents to nicotine, alcohol, caffeine, illicit drugs, occupational hazards, overweight/obesity and diabetes mellitus are suspected as environmental risk factors.MethodsRelevant studies published until August 2010 were identified through systematic search in PubMed, EMBASE, ISI Web of Knowledge and the Cochrane Library databases. Furthermore, related and cross-referencing publications were reviewed. Pooled odds ratios (95% confidence intervals) were determined to quantify associations of maternal and paternal smoking, maternal alcohol consumption, underweight (body mass index [BMI] < 18.5), overweight (BMI 25-29.9), obesity (BMI ≥30) and maternal diabetes mellitus with ARM using meta-analyses.Results22 studies that reported on the association between prenatal environmental risk factors and infants born with ARM were included in this review. These were conducted in the United States of America (n = 12), Spain (n = 2), Sweden (n = 2), the Netherlands (n = 2), Japan (n = 1), France (n = 1), Germany (n = 1) and Hungary (n = 1). However, only few of these studies reported on the same risk factors. Studies were heterogeneous with respect to case numbers, control types and adjustment for covariates. Consistently increased risks were observed for paternal smoking and maternal overweight, obesity and diabetes, but not for maternal smoking and alcohol consumption. In meta-analyses, pooled odds ratios (95% confidence intervals) for paternal smoking, maternal overweight, obesity, pre-gestational and gestational diabetes were 1.53 (1.04-2.26), 1.25 (1.07-1.47), 1.64 (1.35-2.00), 4.51 (2.55-7.97) and 1.81 (1.23-2.65), respectively.ConclusionEvidence on risk factors for ARM from epidemiological studies is still very limited. Nevertheless, the few available studies indicate paternal smoking and maternal overweight, obesity and diabetes to be associated with increased risks. Further, ideally large-scale multicentre and register-based studies are needed to clarify the role of key risk factors for the development of ARM.

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Section: Introductionmentioning

confidence: 99%

Parental risk factors and anorectal malformations: systematic review and meta-analysis

Zwink

Jenetzky

Brenner

2011

Orphanet J Rare Dis

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“…At the end of the third week of embryogenesis, embryonic mesoderm cells with rib-forming capacity migrate from the primitive streak and pass around the cloacal membrane, finding their way from the region of the future coccyx via the region of the future pelvic walls, to the region of the lower abdominal wall [ 2 ]. In normal rib development, the posterior part of each rib originates as a 'costal process' of the mesenchyma, thus forming the vertebral centra [ 11 ]. It has been suggested that, in the pelvis, the 'costal processes' become incorporated into the lateral parts of the sacrum and coccyx [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

Pelvic digit as a rare cause of chronic hip pain and functional impairment: a case report and review of the literature

Maegele

2009

J Med Case Reports

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IntroductionPelvic digit is a rare congenital anomaly where bone develops in the soft tissue adjacent to normal skeletal bone. The condition is benign and is usually discovered accidentally. On a plain radiography, pelvic digit typically appears as a rib- or phalanx-like bone structure with a clear cortex and medulla related to the pelvis, often with a pseudoarticulation at its base.Case presentationWe present the case of a 40-year-old Caucasian man who presented with chronic pain and tenderness over his right hip together with functional impairment in abduction and external rotation. Radiology identified a bony protuberance at the right anterior inferior iliac spine with fusion of the proximal bony nucleus to the adjacent bone. The pelvic digit was surgically removed and the patient was discharged free of symptoms and with complete range of motion in his right hip joint.ConclusionIt is important to recognize and distinguish a pelvic digit from post-traumatic ossification and avulsion to avoid unnecessary additional investigations.

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“…In normal development of ribs, the posterior part of each rib originates as a ªcostal processº of the mesenchyma forming the vertebral centra [11]. This mesenchyma develops from the sclerotomes, which are one of three subdivisions of the primitive mesoderm which fan out from the primitive streak.…”

Section: Discussionmentioning

confidence: 99%