Febbraio 2018 - Volume XXXVII - numero 2
Linee guida
1Clinica Pediatrica, IRCCS Istituto “Giannina Gaslini”, Genova
2Università di Genova
Indirizzo per corrispondenza: giusypattis@gmail.com
Key words: Silver-Russell syndrome, Diagnosis, Molecular testing, Guidelines
Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterised by severe intrauterine and postnatal growth retardation with typical dysmorphic features. SRS is primarily a clinical diagnosis; however molecular testing enables confirmation of the clinical diagnosis and defines the subtype. The article reports an update on the clinical manifestations, diagnosis and management of SRS patients.
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