Morphological patterns in limb deficiencies and duplications

OʼRahilly, Ronan

doi:10.1002/aja.1000890202

Cited by 153 publications

(60 citation statements)

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“…In this clinical series of patients with thumb and radial deficiencies, proximal deficiency (i.e., of the radius) was always associated with distal deficiency, but distal deficiency often occurred in isolation. Several authors have reported the association of thumb deficiency with radial deficiency [1][2][3][4][5][6][15][16][17] . Previous descriptions have focused on the association between thumb deficiency and carpal anomalies [18][19][20] as well as the association between radial deficiency and carpal anomalies 5,16 .…”

Section: Discussionmentioning

confidence: 99%

The Association of Radial Deficiency with Thumb Hypoplasia

James

Green

McCarroll

et al. 2004

The Journal of Bone & Joint Surgery

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Section: Discussionmentioning

confidence: 99%

The Association of Radial Deficiency with Thumb Hypoplasia

James

Green

McCarroll

et al. 2004

The Journal of Bone & Joint Surgery

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“…Dysmelia is a heterogenous condition affecting the physical integrity of the body (O'Rahilly 1951;O'Rahilly and Gardner 1975). It involves a deficit in limb formation caused by genetic or developmental factors that results in a deformation of arms or legs.…”

Section: Animation Without Incarnation: Phantom Sensations Of Congenimentioning

confidence: 99%

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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“…Potel 20 distinguished between longitudinal and transverse anomalies in 1914. O'Rahilly ex-panded the concept of intercalary deficiencies (i.e., phocomelia) in 1951 21,22 . Two important contributions from the German literature were made in the late nineteenth and early twentieth centuries.…”

Section: Historymentioning

confidence: 99%