[MIM 607 721]

(Mazzanti syndrome, Tosti syndrome)

RASopathy (see this term) due to a mutation in the SHOC2 gene (10q25.2).

Same facies as Noonan syndrome (see this term) with:

-        fragile hair that breaks off easily

-        skin hyperpigmentation with eczema or ichthyosis

-        delayed development of somatotropic origin resistant to injection of growth hormone

-        cognitive deficit and hyperactivity

-        nasal voice

-        frequent hearing loss

-        heart defect: ASD, VSD or mitral valve involvement

Anesthetic implications: 

recent cardiac evaluation and management according to heart disease. Possibly difficult intubation. Difficult venous access. Avoid hypotension and ensure normoventilation.

References : 

-        Verloes A, Cave H.
Syndrome de Noonan et RASopathies apparentées,
In Syndromes dysmorphiques, édité par D Lacombe et N Philip, Série Progrès en Pédiatrie, Doin 2013, p 13-26.

Updated: January 2017