A long way to syndromic short stature
The clinical resemblance of other short stature syndromes with SRS poses a risk of diagnostic failure, in particular when clinical SRS only criteria are met, allowing SRS diagnosis in the absence of a positive result of a genetic test. The presence of additional features atypical for SRS diagnosis becomes a red flag for a more extensive and thorough analysis. The signs relevant to the differential diagnosis should be valued as much as possible since a correct diagnosis of these patients is the only way to provide the appropriate care pathway, a thorough genetic counselling, prognosis definition, follow up setting, appropriate monitoring and care of possible medical problems.
Authors
- Donatella Milani (ORCID: https://orcid.org/0000-0002-3087-8514)
- Federico Grilli
- Maura Masciadri (ORCID: https://orcid.org/0000-0003-1812-6798)
- Lidia Pezzani (ORCID: https://orcid.org/0000-0002-4601-2985)
- Camilla Meossi (ORCID: https://orcid.org/0000-0002-6574-9608)
- Rosamaria Silipigni
- Maria Francesca Bedeschi (ORCID: https://orcid.org/0000-0002-6723-9177)
- Silvia Russo (ORCID: https://orcid.org/0000-0002-5893-0193)
- Alessandro Vimercati (ORCID: https://orcid.org/0000-0002-7918-584X)
- Paola Marchisio (ORCID: https://orcid.org/0000-0002-5691-3920)
- Federica Gaudioso
Institutions
- University of Milan (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Papa Giovanni XXIII (IT)
- Fondazione Stella Maris (IT)
- IRCCS Istituto Auxologico Italiano (IT)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1186/s13052-024-01737-3
- Citations
- 1
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Ministero della Salute