RESUMO
Spondyloepimetaphyseal dysplasia-Shohat type (SEMDSH) is an ultra-rare type of skeletal dysplasia. Only nine patients from six families have been reported and genetically confirmed to have biallelic pathogenic variants in the DDRGK1 gene. We present a patient with typical clinical features of the disorder, including disproportionate short-limbed short stature, short neck, short chest with pectus carinatum, exaggerated lumbar lordosis and marked genu vara. Our patient further showed microcephaly, unilateral choanal atresia and antenatal fractures, features that were not reported before in association with this disorder. Radiological changes over time were presented, including delayed epiphyseal ossification, broad metaphysis with marked irregularities that progressed with age, fibular overgrowth, and characteristic spine changes with early platyspondyly and squaring of vertebral bodies at a later age. Exome sequencing revealed a homozygous pathogenic donor splice site variant in the DDRGK1 gene (NM_023935.3:c.408+1G > A). This mutation was also previously identified in patients from Iraqi descent. Our study expands the phenotypic spectrum of SEMDSH, emphasizes the radiological changes with age in SEMDSH patients, and recommends prolonged follow-up for these cases better to delineate the phenotype and surveillance for possible complications.