[MIM 180 860, 312 780 616 489]

(Russell-Silver syndrome)

Estimated prevalence: 1/100.000. Sporadic or autosomal dominant transmission. There are two subgroups on the basis of genetics: anomalies of methylation of the H19 gene (11p15) (50%) or maternal monoparental disomy of chromosome 7 (less severe phenotype) (10%).

Association of

-        intrauterine growth retardation without postnatal catch-up

-        short stature with relative macrocephaly (triangular face)

-        facial dysmorphism: mandibular hypoplasia with bulging forehead and downwards angled mouth, small mouth opening and micrognathia

-        a lack or total absence of appetite related to an abnormal functioning of serotonin receptors in the central nervous system

-        fasting hypoglycemia and mild metabolic acidosis, syncope associated with those hypoglycemic episodes

-        gastro-esophageal reflux with major digestive disorders of the gastric and intestinal motility: slow gastric emptying leading to vomiting or frequent reflux, constipation, diarrhea

-        precocious puberty

-        sometimes: asymmetry of limbs (hemihypertrophy in 60%), clinodactyly

Normal intelligence. Risk of hypoglycemia: in general, feeding by gastrostomy. Sometimes adrenocortical insufficiency. Failure to response to growth hormone.

Anesthetic implications:

risk of difficult intubation. Use an endotracheal tube of smaller size than estimated on the basis of age. Administer glucose containing IV fluids and monitor blood glucose levels. Risk of hypothermia. Risk of adrenal insufficiency.

References : 

-         Dinner M, Goldin EZ, Ward R, Levy J. 
Russell-Silver syndrome: anesthetic implications. 
Anesth Analg 1994; 78:1197-9.

-          Tomiyama H, Ibuki T, Nakajima Y, Tanaka Y.
Late intraoperative hypoglycemia in a patient with Russell-Silver syndrome. 
J Clin Anesth 1999 ; 11 : 80-1.

-         Anesthesia recommendations for patients suffering from Russell-Silver syndrome.
Orphananesthesia.eu, nov 2011

-        Passier RHA, Verwijs E, Driessen JJ. 
Anaesthesia and orphan disease: anaesthetic management of an infant with Silver-Russell syndrome. 
Eur J Anaesthesiol; 2014; 31: 336-8

Updated: June 2017