%0 Journal Article
%T Sedaghatian spondylometaphyseal dysplasia in two siblings.
%A Peshimam N
%A Farah H
%A Caswell R
%A Ellard S
%A Jan W
%A Calder AD
%A Cobben J
%A Kariholu U
%A Leitch HG
%J Eur J Med Genet
%V 65
%N 8
%D Aug 2022
%M 35718083
%F 2.465
%R 10.1016/j.ejmg.2022.104541
%X 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.