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ea0029p1297 | Paediatric endocrinology | ICEECE2012

Two novel IGF1R gene heterozygous mutations in two unrelated children with pre and postnatal growth retardation, and microcephaly

Guercio G. , Warman D. , Aziz M. , Riu C. , Aguiar M. , Juanes M. , Marino R. , Ciaccio M. , Berensztein E. , Chaler E. , Rivarola M. , Belgorosky A.

Several IGF1R gene mutations have been described as a cause of growth retardation due to IGF1 insensitivity. The IGF1R gene was analyzed in two children suspected to have IGF1 insensitivity. Both were born small for gestational age (SGA) and showed no postnatal catch-up growth. Both patients presented microcephaly and developmental delay. A boy (P1) was born at 37 weeks, birth weight was 1900 g (−2.98 SDS) and body length 42 cm (−4.7 SDS). At 18 months chronologica...

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Two novel IGF1R gene heterozygous mutations in two unrelated children with pre and postnatal growth retardation, and microcephaly

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