Eur J Med Genet 2022 Jun 16;65(8):104541. Epub 2022 Jun 16.
Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, W2 1PG, UK; North West Thames Genetics Service, Northwick Park and St. Mark's Hospitals, London, HA1 3UJ, UK; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, W12 0NN, UK; MRC London Institute of Medical Sciences, London, UK. Electronic address:
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. Read More