What are the Netchine-Harbison criteria for SRS diagnosis?

NH score: SGA ( 1.5 SDS above weight SDS), prominent forehead (protruding at 1-3 years), body asymmetry, and feeding difficulties/BMI <-2 SDS at 24+ months; ≥4/6 = clinical diagnosis.

What genetic causes are confirmed in SRS?

H19/IGF2 ICR1 hypomethylation at 11p15 (40%): most common; maternal UPD7 (10%); CDKN1C mutations; other chromosome 7 imprinting defects; molecular diagnosis in ~70% of clinical cases; negative genetics does not exclude SRS.

What caloric intake is required to prevent hypoglycemia in SRS infants?

SRS infants have 10-15% increased metabolic rate from increased energy expenditure; caloric intake 120-150 kcal/kg/day required; nocturnal uncooked cornstarch (1-2 g/kg) for safe fasting extension; never fast >4-6 hours before 2 years.

How does GH treatment benefit SRS?

GH 0.035-0.067 mg/kg/day (approved in SRS); improves linear growth by 4-7 cm additional height vs untreated over 2 years; also improves body composition (reduces lean mass deficit); start age 2-3 years with ongoing hypoglycemia risk assessment.

What is the "big forehead" sign in SRS?

Prominent forehead (pseudohydrocephalus) appearance at birth and toddler age due to relative macrocephaly at birth on a growth-restricted body; not true hydrocephalus; proportions normalize with catch-up growth; neurological development typically normal.

Silver-Russell Syndrome Growth and Nutrition Assessment

Scores Silver-Russell syndrome severity using Netchine-Harbison clinical criteria, fasting hypoglycemia risk, growth hormone treatment response, and caloric requirement calculation to prevent fasting in SRS infants.

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Frequently Asked Questions

What are the Netchine-Harbison criteria for SRS diagnosis?

What genetic causes are confirmed in SRS?

What caloric intake is required to prevent hypoglycemia in SRS infants?

How does GH treatment benefit SRS?

What is the "big forehead" sign in SRS?