Sedaghatian spondylometaphyseal dysplasia in two siblings
Calder, A. D.
Leitch, H. G.
JournalEuropean journal of medical genetics
RightsCopyright © 2022 The Authors. Published by Elsevier Masson SAS.. All rights reserved.
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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.