eLetters

118 e-Letters

  • No evidence of increased mortality in adults with Prader-Willi Syndrome and maternal uniparental di
    Stense Farholt

    Dear Editor

    In their electronic letter Smith et al.[1] claim to have found evidence that adult Prader-Willi syndrome (PWS) patients with maternal uniparental disomy (UPD) have an increased mortality compared to PWS patients with deletion (Del). The main results can be summarised as in Table 1.

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  • Improvement of sleep disturbances and behaviour in Smith-Magenis syndrome with morning melatonin
    Jasper V Been

    Dear Editor

    Smith-Magenis syndrome is a genetic syndrome associated with interstitial deletions of chromosome 17p11.2. Main features include congenital anomalies, abnormal behaviour and sleep/wake rhythm abnormalities.[1] The latter have been shown to result from a reversed circadian rhythm of melatonin.[2,3] Normally, secretion of melatonin peaks at night and is minimal during the day. In Smith-Magenis syndrome mel...

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  • X-linked pseudo-Usher syndrome due to mutations in the RPGR gene: A newly recognized clinical entity
    Alessandro Iannaccone

    Dear Editor

    This letter is in reference to the recent article by Zito et al.[1]

    This very interesting article presents evidence for the association between a frameshift mutation (845-846delTG) in exon 8 of the RPGR gene and an X-linked syndrome inclusive of retinitis pigmentosa, impaired hearing and sino-respiratory infections.

    We would like to take this opportunity to draw the readers’...

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  • 3p deletion detected on telomere screening.
    Alan E. Fryer

    Dear Editor

    We were very interested in the review article on telomeres by de Vries et al.[1]

    The authors comment that all of the 3p terminal deletions reported in the literature were microscopically visible, except for two siblings with an unbalanced familial translocation. We have recently seen a child where we detected a 3p deletion on telomere analysis that was not visible by routine cytogenetic...

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  • Re: Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
    Alan Gibbs

    Dear Editor

    Regarding the article by Maher et al,[1] it should be noted that the correct method for calculating the required probability would be to use the binomial distribution. (Of course the Poisson approximation is quite accurate here). However because of the highly skewed nature of the null distribution the appropriate probability for a two sided test is 0.004 ie the one sided probability should not be dou...

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  • Dissimilar histological features in Peutz-Jeghers syndrome and Laugier-Hunziker syndrome
    Nakhlé M Ayoub

    Dear Editor

    We read with interest the report by Lampe AK et al. [1] presenting a patient with Laugier-Hunziker syndrome (LHS) whom had been extensively investigated in order to rule out Peutz-Jeghers syndrome (PJS).

    In the case presented by Lampe AK et al.[1] biopsy specimen of the lip was twice mislabled as consistent with PJS, which prompted clinicians to undertake repeated unnecessary in...

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  • X-linked inheritance of Myhre syndrome is more likely than autosomal dominant.
    Luigi Titomanlio

    Dear Editor

    We read with interest the work by Burglen et al.[1]

    We really appreciate their attempt to provide a careful differential diagnosis with other rare syndromes whose pathogenesis is still unknown. We observed one patient with Myhre syndrome [2] and another one affected by geleophysic dysplasia [3] and find their ta...

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  • Clinical and Genetic Heterogeneity in Desbuquois Dysplasia
    Laurence Faivre

    Dear Editor

    Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterized by markedly short stature of prenatal onset, joint laxity, facial dysmorphism including round face, prominent bulging eyes and midface hypoplasia.

    The radiological findings include a ‘Swedish key’ appearance of the proximal femur, advanced carpal and tarsal bone age and typical hand changes consisting in an extra o...

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  • Survival in trisomy 13
    Digamber S. Borgaonkar

    Dear Editor

    No doubt the standards of care vary with time, location, and affordability. I described (with my colleagues) a patient with 13 trisomy who had a long survival the last time I saw her in 1995, 12 years (see Delaware Med J 1985;57:629-634 and Delaware Med J 1987;59:105-106, also see www.wiley.com/borgaonkar). We also have...

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  • Authors Reply
    David FitzPatrick

    Dear Editor

    One of the interesting findings in this study is the lack of a change in length of survival over the study period. It appears that modern intensive care has not made any impact. Indeed, rapid and accurate diagnosis with early withdrawal of care following discussion with the parents may reduce the survival period. It is interesting that, Dr Rassmusen from the CDC in Atlanta presented new population based dat...

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