(MIM 602 535)

Sporadic. Mutation of the NFIX gene (19p13.3).

Association of:

-        advanced bone age (from birth) with accelerated bone growth ,

-        facial dysmorphism: micrognathia, anteverted nostrils, prominent forehead, bulging eyes

-        growth retardation linked to severe feeding difficulties and mental retardation.

Susceptibility to respiratory infections, laryngomalacia, hypoplastic larynx with short epiglottis, stridor, obstructive apnea,  atlo-axoid instability with risk of spinal cord compression, sometimes choanal atresia and scoliosis. A severe evolution is frequent, with death in the first years of life. For the patients surviving longer: precocious puberty, dilation of the ascending aorta.

Anesthetic implications:

obstructive apnea. Difficult intubation. Instability of the cervical spine

References : 

• Dernedde G, Pendeville P, Veyckemans F, Verellen G, Gillerot Y. 
  Anaesthetic management of a child with Marshall-Smith syndrome. 
  Can J Anaesth 1998; 45: 660-3.
• Cullen A, Clarke TA, O’Dwyer TP. 
  The Marshall-Smith syndrome : a review of the laryngeal complications. 
  Eur J Pediatr 1997; 156: 463-4

• Antila H, Laitip T, Aantaa R, Silvoniemi P, Pakkanen A. 
  Difficult airway in a patient with Marshall-Smith syndrome. 
  Paediatr Anaesth 1998; 8: 429-32.   
• Nakano M, Fujimoto M, Miyake S, et al.
  General anesthesia in a patient with Marshall-Smith Syndrome.
  J. Jpn. Dent. Soc. Anesthesiol. 2019;47:47–9.
• Machotta A, Hoeve H.
  Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome.
  Pediatr Anesth 2008; 18: 341-2
• Salik I, Barst S.
  Traumatic globe rupture in a patient with Marshall-Smith syndrome.
  J Clin Anesth 2019; 58: 47
• Noguchi S, Saito J, Kawaguchi J, Kushikata T, Hirota K.
  Successful respiratory management of a Marshall-Smith syndrome patient with a tracheo-innominate artery fistula.
  JA Clinical Reports 2020 ; 6 : 37

Updated: June 2023