Fig. 2: Skeletal radiographs of selected fetuses in the study with rare phenotypes and unsolved molecular diagnoses.
From: Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
A Fetus 20, 19 weeks. OI type 5, IFITM5-related (OMIM#610967). Note mildly reduced mineralization with several bilateral rib and left clavicle fractures (arrows), some with callus formation. Steep angulation of long tubular bones, except for humerus. B Fetus 22, 20+ weeks. Opsismodysplasia, INPPL1-related (OMIM#258480). Note severe platyspondyly, iliac hypoplasia, short tubular bones with irregular metaphyses and remarkable brachydactyly in hands and feet. C Fetus 23, 13 weeks. Greenberg dysplasia, LBR-related (OMIM#215140). Note irregular mineralization. Severely short long tubular bones with anarchic ossification. Thorax hypoplasia with gracile irregular ribs. Low mineralization of vertebral bodies. D Fetus 25, 14 weeks. Cole-Carpenter syndrome, SEC24D-related (OMIM#616294). Note low mineralization, short extremities and multiple fractures of the ribs and tubular bones (arrows). E Fetus 26, 16 weeks. Acrofacial dysostosis, SF3B4-related (Nager syndrome OMIM#154400). Note retromicrognathia, left scapular hypoplasia (arrow), elbow misalignment, bilateral radioulnar synostosis (arrows), ulnar deviation in wrists, bilateral absence of thumbs, bent tibia, right fibular hypoplasia, left fibular aplasia, and bilateral pes equinovarus. F Fetus 29, 18 weeks. OI, unsolved molecular diagnosis. Note decreased mineralization of skull and face. Left femoral fracture with callus (arrow). Few rib and left clavicular fractures (arrows). Markedly slender diaphyses of the long tubular bones. G Fetus 30, 17 weeks. Metaphyseal osteosclerosis, unsolved molecular diagnosis. Postmortem CT. Note severe sclerosis of the metaphyses in tubular bones, metaphyseal equivalents and in vertebral bodies. Slender ribs with bilateral fractures (arrow). H Fetus 31, 20 + 1 weeks. Spondylocostal dysostosis, unsolved molecular diagnosis. Note multiple segmentation anomalies (arrow), leftsided partial dorsal rib fusions (costae 6–7 and 8–10) (arrow), and unilateral left acetabular dysplasia. I Fetus 32, 20 weeks. Peromelia/ectrodactyly, unsolved molecular diagnosis. Note reduction anomalies of all four extremities. Absent feet. Left hand with shortened fingers 2–4 and partial syndactyly, right hand with shortened fingers 1 and 5, and stumps of fingers 2–4.
