{Reference Type}: Journal Article
{Title}: Sedaghatian spondylometaphyseal dysplasia in two siblings.
{Author}: Peshimam N;Farah H;Caswell R;Ellard S;Jan W;Calder AD;Cobben J;Kariholu U;Leitch HG;
{Journal}: Eur J Med Genet
{Volume}: 65
{Issue}: 8
{Year}: Aug 2022
{Factor}: 2.465
{DOI}: 10.1016/j.ejmg.2022.104541
{Abstract}: Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. Despite the limited literature available, evidence suggests this is a multi-system disorder, with neurological and cardiovascular abnormalities reported in addition to the skeletal features. We report a new family with two affected siblings and detailed phenotypic description of the affected proband. Diagnosis in the neonatal period led to retrospective genetic diagnosis of a previous affected pregnancy that was terminated due to severe ventriculomegaly. We suggest that a diagnosis of SSMD should be considered when shortened long bones are found in combination with significant brain abnormalities.