eLetters

123 e-Letters

  • 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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  • Does the survival data on trisomy 13 and 18 take into account influencs of modern interventions?
    Erawati V Bawle

    Dear Editor

    Many articles written on the age of survival of babies with trisome 13 and 18 fail to factor in the influence of modern intensive care treatment modalities.

    Use of artificial respirators, suctioning of respiratory secretons coupled with supplemental oxygen and nasogastric tube feedings may prolong survival.For the survivors beyond 7-10 days, it has become routine to feed these babies with tube f...

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  • A case for agreed nomenclature?
    Elizabeth Mary Tuckerman

    Dear Editor

    I would like to draw to the attention of your readers that the pair of twins described in this report[1] are the same twins that we described in our paper Tuckerman et al.[2] I feel that failing to directly quote our paper was rather an oversight by Willemsen et al. on a number of counts.

    First, our paper contains a more detailed family history and description of the twins...

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  • Erroneous title
    David E Barton

    Dear Editor

    The title of the article by Rio et al. in this month's Journal "Automated fluorescent genotyping detects 10 % of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation" is incorrect and very misleading. The title as publsihed clearly means that automated fluorescent genotyping fails to detect 90 % of subtelomeric rearrangements in idiopathic syndromic mental retardation. Ev...

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  • DM1 and ovarian failure
    Paul G. McDonough

    Dear Editor

    Thank you for an interesting paper on the relationships between DM1 and reproductive function. The occurrence of testicular failure(endocrine and exocrine )in males with DM1 is well documented in the literature. A careful search for ovarian failure or compromised ovarian function in the female with DM1 has been infrequently recognized or infrequebtly studied. I have had a 31 year old patient with DM1 and...

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  • Re: Response to: Reardon et al. J Med Genet 2001; 38: 820-823.
    William Reardon

    Dear Editor,

    My co-authors and I are grateful to Professor Winter for drawing this point to our attention. The baby was found to have a tracheo-oesophageal fistula and oesophageal atresia which were the subject of surgical correction on day 2 of life. These findings strengthened concerns with respect to VATER association. I regret that the inadvertant omission of these clinical data have led to any confusion an...

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