Disruption sequences: Embryonic vascular accident or blastogenic disruption sequence?

Bamforth, J.

doi:10.1002/ajmg.1320470229

Cited by 4 publications

(3 citation statements)

References 49 publications

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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%

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review

Miller

Strömland²,

Ventura³

et al. 2004

Intl J of Devlp Neuroscience

143

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Autism is a complex developmental disorder without an established single etiology but with significant contributions from genetic studies, functional research, and neuropsychiatric and neuroradiologic investigations. The purpose of this paper is to review the findings in five studies involving individuals manifesting the characteristic findings of autism spectrum disorder associated with malformations and dysfunctions known to result from early embryogenic defects. These investigations include two associated with teratogens (thalidomide embryopathy, Mobius sequence with misoprostol) and three (most Mobius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology. These studies suggest that early embryonic development errors often involving cranial nerve palsies, internal and external ear malformations, ophthalmologic anomalies, and a variety of systemic malformations may be associated with autism spectrum disorders statistically more frequently than expected in a normal population. Although the exact time of developmental insult for each condition cannot be identified, the evidence is that it may occur as early as week 4 to 6+ of embryogenesis.

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Section: Discussionmentioning

confidence: 99%

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review

Miller

Strömland²,

Ventura³

et al. 2004

Intl J of Devlp Neuroscience

143

View full text Add to dashboard Cite

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“…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%

Hypothesis: Central digit hypoplasia

Holmes

Nasri

2022

American J of Med Genetics Pt A

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Limb deficiencies are a common birth defect. A malformations surveillance program among many newborns, stillborn fetuses, and malformed fetuses in elective terminations can identify a sufficient number of infants with the same set of abnormalities to characterize a specific limb deficiency phenotype. The active malformations surveillance program was carried out among 289,365 births at Brigham and Women's Hospital in Boston over a 41-year period (1972-2012). The research assistants identified the affected infants and fetuses from reading the findings recorded in each newborn's medical record by the examining pediatricians and consultants and by the pathologists in autopsies. One hundred ninety-four newborn infants and fetuses were found to have a limb deficiency either as an isolated abnormality or as one of multiple malformations. We identified three phenotypes of limb deficiency. We present here the seventeen infants and fetuses with "central digit hypoplasia," a term we suggest for this phenotype: hypoplasia of the thumb and fifth finger with nubbins of soft tissue in place of fingers 2, 3, and 4 at the level of the metacarpal-phalangeal joint. Central digit hypoplasia is to be distinguished primarily from the terminal transverse limb defect that ends at the wrist. In symbrachydactyly, the middle and distal phalanges of the fingers and toes are hypoplastic. In addition, central digit hypoplasia should be distinguished from the amniotic band syndrome, the most common and incorrect diagnosis suggested by the pediatricians and the consultants in this survey.The affected infant and her/his parents benefit from more accurate and specific counseling.

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Goldenhar, Möbius and hypoglossia-hypodactyly anomalies in a patient: Syndrome or association?

Preis

Majewski

Hantschmann³

et al. 1996

Eur J Pediatr

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Disruption sequences: Embryonic vascular accident or blastogenic disruption sequence?

Cited by 4 publications

References 49 publications

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review

Hypothesis: Central digit hypoplasia

Goldenhar, Möbius and hypoglossia-hypodactyly anomalies in a patient: Syndrome or association?

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