Silver-Russell syndrome (SRS) is characterized by intrauterine (IUGR), postnatal growth restriction, relative macrocephaly and typical dysmorphic features. Two mechanisms account for 70% of SRS cases: hypomethylation of 11p15.5 imprinting center region 1 (ICR1) and maternal uniparental disomy for chromosome 7 (matUPD7). Prenatal diagnosis is possible only for matUPD7. We report the antenatal and postnatal data of three unrelated cases of SRS. Pregnancy was marked by asymmetric IUGR sparing the head at 22 weeks of gestation (WG) with normal prenatal karyotype. Cesarean section delivery was induced due to cessation of fetal growth at 32 WG (case 1) and at 30 WG (case 2) while case 3 was stillbirth at 27 WG. Postnatal echocardiography detected blocked supracardiac total anomalous pulmonary venous return (TAPVR) in case 1 and hypoplastic aortic arch and cardiac TAPVR in case 2. Both died shortly after birth. Autopsy (refused in case 1) findings were: multivisceral hypoplasia (case 2), genital and extremity anomalies (case 3). Hypomethylation of ICR1 11p15.5 was identified in the three cases and confirmed the clinically suspected diagnosis of SRS. SRS should be considered in cases with second trimester asymmetric IUGR sparing the head. Notably, the association of SRS and lethal cardiopathies is rarely reported. Either they represent two distinct pathologies or SRS might be underdiagnosed when associated with lethal cardiopathies. Finally, IUGR, cardiopathies and prematurity led to death of cases (1 and 2). Should premature delivery in SRS be avoided to improve prognosis? A reliable prenatal diagnosis for SRS would prove to be useful.

Title

European Journal of Human Genetics

Publisher

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Publisher Country

Palestine

Publication Type

Both (Printed and Online)

Volume

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Year

2011

Pages

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