Remember Roger Ballen’s photograph from “A picture worth a thousand words… IV“?
So, what’s the diagnosis?
See and then reason and compare and control. But see first. No two eyes see the same thing. No two mirrors give forth the same reflection.
- William Osler
Berci, of ScienceRoll fame, pointed the finger at Fragile X syndrome (also known as Martin-Bell syndrome). The features of this condition certainly appear consistent with the two men depicted in the photograph, as discussed at Clinical Cases and Images:
- X-linked heredity with variable penetrance - so males are more commonly affected, as they lack a “back up” copy of the gene.
- Mental retardation (IQ 35-70 is typical), autistic-like behaviour, and other neuropsychological problems. I think this can be assumed from the photograph…
- Craniofacial abnormalities - long thin face with prominent ears, facial asymmetry, dental overcrowding and high arched palate, prominent forehead and jaw with head circumference >50th percentile. Most of these features seem to fit.
Other clinical manifestations of Fragile X syndrome, that cannot be inferred from the photograph include:
- Musculoskeletal features - such as pes planus, pectus excavatum, joint laxity, scoliosis, and tall stature.
- The presence of a seizure disorder (20%).
- Macroorchidism.
- Mitral valve prolapse.
Fragile X syndrome is the world’s most common hereditary cause of intellectual disability. The syndrome is a consequence of “”silencing” mutations in the fragile X mental retardation-1 (FMR1) gene on chromosome band Xq27.3. This leads to the underproduction of a gene product (i.e. protein) known as “FMRP” and a cascade of downstream effects. The mutations manifest as variable base pair triplet (CGG) expansions in the 5′-untranslated region of the gene - <55 repeats is normal, 55-200 repeats is a “promutation” and >200 repeats is a “full mutation”. The number of repeats is unstable across generations but correlates with the severity of the syndrome, as do patterns of DNA methylation. Affected individuals generally have a normal life expectancy.
<Read more at emedicine and Clinical Cases and Images>.
Probability is the rule of life - especially under the skin. Never make a positive diagnosis.
- William Osler
So Fragile X syndrome could be the diagnosis, although in the absence of genetic testing we cannot know for certain. I suspect there may be more than a single genetic defect at play. Whatever the genetic defect or environmental insult that occurred, this is “only” the “proximate” cause of the condition of these men. The “ultimate” cause - not the internal mechanistic failing that underpins the condition, but the explanation for how this underlying physiological defect came to be perpetuated - probably stems from the isolation and neglect of small populations of Afrikaners in South Africa’s Transvaal and the impoverishment, inbreeding, and degeneracy that ensued. This highlights:
…the profound irony that despite the political privilege apartheid had bestowed on whites, in the physical heart of the land there is inescapable testimony to the failure of the regime even to secure the well-being of the privileged minority.
Many of those people the photographer encounters feel strangled by poverty and preconception, rejected and downgraded. Above all else, most are severely alienated by the radical changes taking place in the society around them.
- From the Roger Ballen website.
Photograph by Roger Ballen.
Tags: A picture worth a thousand words..., Clinical Cases and Images, Fragile X syndrome, Platteland, Roger Ballen, ScienceRoll, South Africa
