Autopsy findings in two adult siblings with Coffin-Lowry syndrome

Machin, Geoffrey A.; Walther, G; Fraser, V M

doi:10.1002/ajmg.1320280536

Cited by 26 publications

(22 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The CLS is now a well-established entity in which congestive heart failure has been reported in a few patients (1,2,(7)(8)(9)(10)(11)(12)(13)(14)(15). Little information is available about the aetiology of cardiac failure, but most cases described previously seem to be related to mitral valve regurgitation.…”

Section: Discussionmentioning

confidence: 99%

Cardiac involvement in Coffin-Lowry syndrome

Massin¹,

Ma²,

Verloes³

et al. 1999

SPAE

View full text Add to dashboard Cite

Coffin-Lowry syndrome is an X-linked recessive syndrome of mental retardation, characteristic facies and skeletal anomalies. In one patient with the syndrome, we observed early recurrent episodes of congestive heart failure with intercurrent normalization and the late development of mitral insufficiency due to annular dilation and congenital abnormalities of the valve apparatus. This unusual course of cardiac involvement, the non-adaptation of the left ventricular contractility to the aggravation of the mitral insufficiency and the postoperative persistence of the ventricular dysfunction, underline the possible role of an associated primary myocardial disease. This clinical observation demonstrates clearly that a mitral valve malformation can occur in patients with the syndrome, but also the role of a dilated cardiomyopathy, which can be secondary to the mitral regurgitation, but is more likely a myocardial disorder occurring as part of the syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

Cardiac involvement in Coffin-Lowry syndrome

Massin¹,

Ma²,

Verloes³

et al. 1999

SPAE

View full text Add to dashboard Cite

show abstract

“…Notably, patients with Ehlers-Danlos syndrome [84,85] , Williams-Beuren syndrome [86] , polycystic kidney disease [87] and Coffin-Lowry syndrome [88] are often afflicted with diverticula of the colon and other internal organs. The etiology of diverticula formation in these syndromes may be unrelated to sporadic age-related DD, but they may offer insight into mechanisms of disease in that at least three of these syndromes are associated with a connective tissue disorder.…”

Section: The Role Of Genetics In Ddmentioning

confidence: 99%

“…Although the genetic basis of this syndrome has not been elucidated fully, it appears to result in elastin haplo-insufficiency [90] . CoffinLowry syndrome is a maternally inheritable disorder that may also be related to disrupted collagen metabolism [88] . Scheff et al [91] observed colonic diverticulae in 83% of patients with end stage polycystic kidney disease (PKD).…”

Section: The Role Of Genetics In Ddmentioning

confidence: 99%

Diet, ageing and genetic factors in the pathogenesis of diverticular disease

Commane¹,

Arasaradnam²,

Mills³

et al. 2009

WJG

119

View full text Add to dashboard Cite

Diverticular disease (DD) is an age-related disorder of the large bowel which may affect half of the population over the age of 65 in the UK. This high prevalence ranks it as one of the most common bowel disorders in western nations. The majority of patients remain asymptomatic but there are associated life-threatening co-morbidities, which, given the large numbers of people with DD, translates into a considerable number of deaths per annum. Despite this public health burden, relatively little seems to be known about either the mechanisms of development or causality. In the 1970s, a model of DD formulated the concept that diverticula occur as a consequence of pressureinduced damage to the colon wall amongst those with a low intake of dietary fiber. In this review, we have examined the evidence regarding the influence of ageing, diet, inflammation and genetics on DD development. We argue that the evidence supporting the barotrauma hypothesis is largely anecdotal. We have also identified several gaps in the knowledge base which need to be filled before we can complete a model for the etiology of diverticular disease.

show abstract

“…Many of these may well represent spurious chance observations. Examples include drop attacks 27 and cataplexy, 28 cataracts, 13 19 visceral neuropathy, 24 myelopathy, 29 and subclavian artery stenosis. 18 Premature loss of the primary 1 or secondary 22 dentition may be a consequence of periodontal disease.…”

Section: Other Complicationsmentioning

confidence: 99%