eLetters

120 e-Letters

  • Normal or increased melanocyte numbers are found in the pigmented macules in both Peutz-Jeghers sy
    Philip J Hampton

    Dear Editor

    In their letter Ayoub et al. suggest that Peutz-Jeghers Syndrome (PJS) can be distinguished from Laugier Hunziker Syndrome (LHS) by histological examination of the pigmented macules[1] and suggest that the pigmented macules in PJS are histologically lentigos showing increased numbers of normal melanocytes whereas in LHS the histology shows no increase in melanocyte numbers. They support their ar...

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  • Treatment of Smith-Magenis syndrome as an advanced sleep phase syndrome
    Hélène de Leersnyder

    Dear Editor

    We read with attention and interest the eLetter by Been et al.[1] We would like to reply.

    We agree with the author that Smith-Magenis syndrome (SMS) may be may be an extremely advanced sleep phase syndrome. The definition of this advanced sleep phase syndrome is based actually on clinical evaluation and melatonin dosages. A mutation of Perclock gene was found in families with familial...

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  • 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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