Mulvihill-Smith, syndrome

[MIM 176 690]

Extremely rare. Progeroid syndrome (see progeria) with probable autosomal recessive inheritance .

Clinical appearance:

-        low birth weight

-        short stature (P3), absence of subcutaneous fat, especially at the level of the face (bird face aspect)

-        microcephaly

-        multiple pigmented nevi  (from the age of one year)

-        rapid senescence: diabetes, chronic bronchitis

-        immunodeficiency

-        progressive loss of hearing and vision

-        longer life expectancy than in case of progeria

-        risk of developing malignant tumours in young adults


Anesthetic implications:

risk of difficult mask ventilation and  intubation; early atheromatosis (ECG and echocardiography); old man appearance but child psychology


References : 

-         Kuribayashi J, Yamada T,Morisaki H, Takeda J.
Anesthetic management of a patient with Mulvihill-Smith syndrome.
Masui 2007 ; 56 : 835-7 (en japonais)

-        Breinis P, Alves FG, Alves CAE, Cintra RG et al.
The eleventh reported case of Mulvihill-Smith syndrome in the literature.
BMC Neurology 2014; 14:4


Updated: December 2018