Association of Atrial Septal Defect with Poland-Moebius Syndrome: Vascular Disruption Can Be a Common Etiologic Factor

Matsui, Akemi; Nakagawa, Masao; Okuno, Masahiko

doi:10.1177/000331979704800311

Cited by 21 publications

(6 citation statements)

References 5 publications

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“…Some investigators refer to it as the “subclavion disruption syndrome” (Bavinck and Weaver, 1986; Issaivanan et al, 2002). In addition to the primary vascular disruption causing hypoxia from ischemia, edema and hemorrhage, many secondary events can occur affecting other organs (Shepard, 1991; St. Charles et al, 1993; Matsui et al, 1997). Animal models have been developed to show how different malformations can occur (Lipson et al, 1989).…”

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

142

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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

142

View full text Add to dashboard Cite

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“…Congenital heart defects such as atrial septal defect have been reported in MBS. 20 MBS belongs to the group of embryonic developmental conditions known as CCDDs, which are nonprogressive and the result of a regional rhombencephalic development disorder involving predominantly motor and internuclear neurons. 21 CCDDs typically affect facial and/or oculomotor nuclei with subsequent defective lower motor unit development.…”

Section: Discussionmentioning

confidence: 99%

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Rawhani

Sharma

Maertens

2022

Journal of Neuroimaging

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Background and Purpose Möbius sequence (MBS) previously known as Möbius syndrome is a rare nonprogressive developmental defect of the rhombencephalon leading to congenital abducens (VIth) and facial (VIIth) nerve palsy. Echoencephalography is the first, safe, noninvasive, and cost‐effective imaging modality available at bedside. No study on the use of echoencephalography in neonates for the diagnosis of MBS has been previously reported. Methods In this single tertiary center study, more than 18,000 neonates underwent echoencephalographic imaging over the span of two decades. Imaging was performed through the anterior, posterior, and lambdoid fontanelles. All neonates found to have calcifications of brainstem tegmental nuclei underwent additional imaging studies. Each neonate with MBS was carefully examined by the same investigator. Results Five neonates were shown to have punctate, bilateral, symmetrical tegmental pontine calcifications through all three acoustic windows. These calcifications extended caudally in most patients, and rostrally in 2 patients. Brainstem hypoplasia was best seen through the posterior fontanelle. Three out of five infants were noted to have brainstem hypoplasia with straightening of the floor of the fourth ventricle. In two children, facial collicular bulges and hypoglossal eminences were present. All five infants fulfilled clinical diagnostic criteria of MBS. In addition, a wide array of cerebral defects is identified. Echoencephalographic findings were confirmed by other imaging modalities. Conclusion Knowledge of echoencephalographic features of MBS should improve its early recognition. A detailed description of the various imaging phenotypes of MBS is necessary to characterize the etiology of this heterogeneous congenital cranial dysinnervation disorder.

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“…117,118 They may also be part of Poland-Mö bius, Mö bius-plus, VATER/VACTERL, Hanhart syndrome, etc, 70,119,120 and are also prominent in thalidomide embryopathy. The association of such syndromes with cardiac malformations has been noted, 121 but without any causal link heretofore recognized.…”

Section: Noncephalic Thromboembolismmentioning

confidence: 99%

Thromboembolism and Congenital Malformations

Parsa

Robert²

2013

JAMA Ophthalmol

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To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. Methods: Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. Results: Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-toleft shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemody-namic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. Conclusions: Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

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Association of Atrial Septal Defect with Poland-Moebius Syndrome: Vascular Disruption Can Be a Common Etiologic Factor

Cited by 21 publications

References 5 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

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Thromboembolism and Congenital Malformations

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