Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies

Bavinck, Jan Nico Bouwes; Weaver, David D.

doi:10.1002/ajmg.1320230405

Cited by 564 publications

(301 citation statements)

References 41 publications

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“…of dysmelia) are not caused by genetic defects, but by unspecified "accidents", involving limb amputation, during embryogenesis. We suggest that explanations for unequal frequencies of congenital phantoms for upper and lower as well as for left and right limbs (Table 2) may ultimately be found in the "laws" governing fetal development -such as the slightly earlier development of upper compared to lower limbs (O'Rahilly and Gardner 1975) and the differential vascularization of left and right limb buds (Bouwes Bavinck and Weaver 1986). With respect to this laterality issue, we note the surprisingly low interest by embryologists, teratologists and developmental neuroscientist in this issue and plead for a closer collaboration across the different medical and psychological disciplines.…”

Section: Phantoms Of Congenitally Absent Limbs As Manifestations Of Amentioning

confidence: 95%

Incarnation and animation: physical versus representational deficits of body integrity

Hilti

Brugger

2009

Exp Brain Res

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Hilti, L; Brugger, P (2010). Incarnation and animation: physical versus representational deficits of body integrity. Experimental Brain Research, 204(3) AbstractTwo apparently disparate phenomena of defective body integrity are reviewed. The first concerns dysmelia, characterized by the congenital absence or deformation of limbs, and the focus of the review is on phantom sensations of people with this kind of physical integrity disorder. The second phenomenon consists of non-psychotic individuals' desire to have a healthy limb amputated, which is interpreted as a mismatch between the physical integrity of a particular limb and its representation in multimodal cortical areas of the brain. We outlined commonalities and differences between the two conditions and note the absence, in both areas of research, of a unified theory that would account for the reported phenomenology. Phantom limbs in dysmelia and the desire for limb amputation most likely are the consequence of very early developmental dissociations between physical and phenomenal body shapes. They are mirror images of one another in that the former constitutes an "animation without incarnation" and, the latter, an "incarnation without animation". Keywords-body integrity identity disorder (BIID) -paraphilias -parietal lobes -body image, body schema -borderlands of psychiatry and neurology 2 This paper examines two apparently disparate phenomena of corporeal awareness. In both, the completeness or integrity of one's own body is hampered. The first is the occurrence of phantom limbs in individuals born with an "incomplete" body, in which the physical body is incomplete, but the missing limb seems to be represented in the subject's brain, at least as can be inferred from its phenomenal presence. The second phenomenon is the strong desire, by non-psychotic and otherwise well-adjusted healthy individuals, to have a fully functional limb removed. In this condition, it can be argued that despite the physical presence of a limb, the lack of acceptance is due to some underrepresentation in the subject's brain. We review the literature on both conditions and propose that phantom sensations of physically absent limbs and the request for removal of normally developed extremities may be mirror images of one another on the conceptual level: an animation without incarnation and an incarnation without animation, respectively.

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Section: Phantoms Of Congenitally Absent Limbs As Manifestations Of Amentioning

confidence: 95%

Incarnation and animation: physical versus representational deficits of body integrity

Hilti

Brugger

2009

Exp Brain Res

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“…Several of the experimental studies demonstrated that the initiating event in development of the limb and other malformations was an area of hemorrhage [Poswillo and Sopher, 1971;Poswillo, 1975;Kennedy and Persaud, 1977]. There followed a series of articles in the 1980s attributing a variety of birth defects, in addition to limb defects, to a presumptive vascular cause [Hoyme et al, 1981;Van Allen et al, 1982;Stevenson et al, 1986;Bavinck and Weaver, 1986].…”

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Hunter

Seaver

Stevenson

2011

American J of Med Genetics Pt A

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Aside from gastroschisis and omphalocele, major defects of the ventral body (thoracoabdominal) wall are relatively uncommon and almost universally lethal. They are most often associated with other anomalies including those of the limbs that may range from amelia to mild positional deformations, unusual craniofacial malformations, and a variety of visceral abnormalities that include the heart, lungs, genitourinary system, and gut. This complex of ventral wall anomalies has been discussed under a broad and changing nomenclature that has included amniotic band disruption complex, amnion rupture sequence, limb-body wall defect (or complex), and simply body wall complex. Three major theories have been suggested to explain this complex: early amnion rupture (operating through uterine pressure and/or disruption by amniotic bands), vascular compromise (primarily hypoperfusion), and an early intrinsic defect of the developing embryo. We present four patients that illustrate the spectrum of ventral body wall defects, and from there critique the current hypotheses of pathogenesis. We conclude that this association of malformations originates as early as the embryonic disc stage, and that some of the observed associated anomalies are secondary complications of the primary disturbance in embryogenesis. We propose a new explanation for the atypical facial clefts and cranial malformations that are often observed.

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“…12,13 Pathogenesis No single etiological factor has been definitively associated with Moebius sequence, nor is it certain whether the pathology is a result of dysgenesis or degeneration. The most accepted theory proposes a disruption, in utero, of the basilar or vertebral arteries at a critical and early stage in gestation 14 by hypoxia, hyperthermia, infection, or drugs, in particular benzodiazepines, 15 alcohol and cocaine. 5 Misoprostol, a non-steriodal medication used for early non-surgical termination of pregnancies, has a strong association 16 and is thought to be responsible for a suggested recent increased incidence of Moebius sequence.…”

Section: Discussionmentioning

confidence: 99%

Obstetrical and Pediatric Anesthesia Anesthetic management of children with Moebius sequence

Ames

Shichor

Speakman

et al. 2005

Can J Anesth/J Can Anesth

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Background: Moebius sequence is a rare congenital absence of the sixth and seventh cranial nerves, although there may be additional congenital cranial neuropathies. Developmental delay, cardiac and musculoskeletal abnormalities may also coexist. Oro-facial manifestations include bilateral facial nerve palsy resulting in a mask like facies, drooling, incomplete eye closure, and strabismus secondary to the extra-ocular muscle imbalance. This condition has multiple implications for anesthetic care. Methods:We reviewed 111 anesthesia records of 46 patients with Moebius sequence for anesthesia technique and related complications.Results: Facial nerve palsy was universally present and bilateral in 44 (93.6%) patients. Thirty-two (68%) had concomitant sixth nerve palsy. Oro-facial and limb abnormalities were present in 16 (35%) and 18 (39%) of patients respectively. Endotracheal intubation, when attempted, was easy in 76 of 106 cases. Tracheal intubation was consistently difficult in seven patients and intubation failure occurred in a single patient only. Statistically significant factors associated with difficult tracheal intubation included structural abnormalities of the mandible and palate and abnormalities of four cranial nerves (IX, X, XI, XII). Conclusion:We confirm that tracheal intubation may be difficult in patients with Moebius sequence. We identify disease features that might predict a difficult tracheal intubation and thus allow the anesthesiologist an opportunity to plan accordingly.

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Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies

Cited by 564 publications

References 41 publications

Incarnation and animation: physical versus representational deficits of body integrity

Incarnation and animation: physical versus representational deficits of body integrity

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Obstetrical and Pediatric Anesthesia Anesthetic management of children with Moebius sequence

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