Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings

Spondylometaphyseal dysplasia of the Sedaghatian type is a rare dysplasia, characterized by mild limb shortening, but lethal in the neonatal period. W e describe three affected male siblings, the offspring of consanguineous pa rents. One was stillborn. Neonatal death was due to cardiac arrhythmia in t wo of the siblings. This report confirms the importance of cardiac patholog y in this probably autosomal recessive disorder. This diagnosis should be e xcluded in any newborn with an arrhythmia as the clinical limb shortening m ay not be obvious. Clin Dysmorphol 9: 167-172 (C) 2000 Lippincott Williams & Wilkins.