Introduction: Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations.
Case Report: we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests.
Conclusion: diagnosis should be made only by expert operators. Karyotype analysis is essential to confirm the diagnosis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510566 | PMC |
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