Content of review 1, reviewed on November 06, 2020

The Authors present an interesting retrospective study on a large cohort of patients suffering from Smith-Magenis syndrome. The clinical features and neurobehavioral aspects of 47 patients with 17p11.2 microdeletion are examined. The results of the study partly confirm data from previous studies, and partly highlight new aspects. Overall, the study allows a better knowledge of the pathology, favoring an improvement in the diagnostic and therapeutic-assistential care of patients affected by this pathology.
The article is interesting and well written but would benefit from a revision of the English language by a native speaker.
There are also some observations:
Page 2, line 41: instead of "dysmorphism" would be better "dysmorphisms" or "dysmorphic features".
Page 2, lines 11-14: the sentence "Four additional patients..." is not clear. It seems that the patients recruited in Belgium are additional to the 47 patients recruited in 9 French centers, when in fact they should be included in that number.
Page 4, line 37: "(BMI) ≥ 97." should be "(BMI) ≥ 97th centile.
Page 5, line 58: " was 11,5,/year" should be " was 11.5/year".
Page 6, line 3: "was 27,4%" should be "27.4%".
Page 6, line 6: "26,5%" should be "26.5%".
Page 6, line 8: "38,2%" should be "38.2%".
Page 6, lines 49/50-52/53: the sentence "Our figures are in line ..." should be revised.
The bibliography should be formatted according to the indications of the journal.

Source

    © 2020 the Reviewer.

Content of review 2, reviewed on December 12, 2020

The Authors have done a good job of revision, trying to respond as best as possible to the Reviewers' comments. The article is interesting and adds useful elements to the knowledge of SMS. It will surely be appreciated by those who deal with this type of pathologies.

Source

    © 2020 the Reviewer.

References

    Rive, L. G. N., Adeline, J., Lyse, R., Helene, D., Faustine, A., Jennifer, G., Didier, L., Sylvie, O., Myriam, M., Sylvie, M., Jamal, G., David, G., Natacha, L., Nicole, P., Patrick, E., Delphine, H., Coralie, R., Sophie, C., Christel, T., Laurence, F., Laurence, P., Alain, V. 2021. Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort. Clinical Genetics.