1993
DOI: 10.1002/ajmg.1320470229
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Disruption sequences: Embryonic vascular accident or blastogenic disruption sequence?

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Cited by 4 publications
(3 citation statements)
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“…A popular explanation is that it belongs in a group of disruption syndromes, but there is a disagreement as to the causes of the embryonic disruption. Bamforth (1993) describes a process termed “organizational disruption” (blastogenic disruption) as an explanation for some of the observed malformations suggesting that it is a better explanation for some phenotypes. He proposes that there are a group of organizational molecules, highly conserved and determined by chromosomes in a sequential manner, that are important in the early stage of organization.…”
Section: Discussionmentioning
confidence: 99%
“…A popular explanation is that it belongs in a group of disruption syndromes, but there is a disagreement as to the causes of the embryonic disruption. Bamforth (1993) describes a process termed “organizational disruption” (blastogenic disruption) as an explanation for some of the observed malformations suggesting that it is a better explanation for some phenotypes. He proposes that there are a group of organizational molecules, highly conserved and determined by chromosomes in a sequential manner, that are important in the early stage of organization.…”
Section: Discussionmentioning
confidence: 99%
“…Three specific phenotypes were delineated as separate from the infants with central digit hypoplasia: Amniotic band syndrome: The distinguishing characteristics were: constriction rings on a digit, arm, or leg; asymmetric syndactyly of two or more fingers or toes; crusted ends to digits with tethered bands of tissue; and subcutaneous nodules or extra bands of tissue. The limb–body wall defect and craniofacial clefts and brain malformations were considered part of the spectrum of the amniotic band syndrome (Bamforth, 1993; Czeizel et al, 1993; Van Allen, 1992). In addition, the placental membranes of affected infants were examined for signs of absence of amnion on the chorionic surface, that is, amnion rupture (Moerman et al, 1992; Stanek & Adeniran, 2006).…”
Section: Methodsmentioning
confidence: 99%
“…Over the last 50 years, several patterns of abnormalities have been identified. Common examples are the amniotic band syndrome, which is attributed to the process of vascular disruption (Bamforth, 1993; Czeizel et al, 1993; Van Allen et al, 1992), and the nonrandom cluster of anomalies in the VACTERL Association in which there can be anomalies of the vertebrae, anus, heart, esophagus, kidney, and limbs in varied combinations (Källén et al, 2011). Improvements in diagnostic testing have identified specific causes, such as preaxial limb deficiencies and heart defects associated with TBX5 mutations in the Holt‐Oram Syndrome (MIM #142900) and a deletion in the long arm of chromosome 13, which is often associated with limb deficiencies.…”
Section: Introductionmentioning
confidence: 99%