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Case Report

Cornelia de Lange syndrome - rare mutation of SMC1A gene

Lídia Leite, Vasco Carvalho, Miguel Rocha, Almerinda Barroso Pereira, Liliana Pinheiro.

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Introduction: Cornelia de Lange syndrome is a genetic disorder with variable and multisystemic expression marked by physical, cognitive and behavioural characteristics. The prevalence is underdiagnosed but is estimated between 1:10.000-30.000 live births. Mutations in the NIPBL gene are responsible for 60-70% of cases.
Description of case: Premature female newborn delivered at 34 weeks of gestation was admitted to neonatal intensive care unit with feeding difficulties. Family history was unremarkable. Fetal ultrasounds revealed a third-trimester oligohydramnios and growth restriction. Fetal Karyotype 46, XX. Transfontanellar, abdominal and kidney ultrasounds were normal. Echocardiogram showed patent oval foramen. During the first months of life, she had insufficient weight gain associated with facial features (synophrys, winged ears, hypertrichosis, small eyelid slits) and adducted thumbs. A presumptive diagnosis of Cornelia de Lange syndrome was done. A genetic study revealed mutation on the SMC1A gene, missense variant c.2365A>C(p.IIe789Leuc) in heterozygosity, associated with a mild phenotype.
Conclusion: This case reports a rare mutation on the SMC1A gene (MIM #300040) causing Cornelia de Lange syndrome. We intend to reinforce the importance of a high level of clinical suspicion for the diagnosis of this syndrome.

Key words: Cornelia de Lange syndrome, SMC1A gene, failure to thrive, facial dysmorphism, intellectual deficit

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