Fig. 4: Skeletal radiographs of patient 28 with a clinical diagnosis of orofaciodigital syndrome. | European Journal of Human Genetics

Fig. 4: Skeletal radiographs of patient 28 with a clinical diagnosis of orofaciodigital syndrome.

From: Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders

Fig. 4

CT at 3 years and radiographs at 1 month of age. A Cerebral CT, showing molar tooth sign (arrow). B Chest, thoracic cage is within normal range. C Lateral spine, with normal height of vertebral bodies. Note sporadic coronal clefts (arrow). D Right upper extremity, normal. E Lower right extremity shows short tibia and broad diaphyses. Proximal tibial epiphysis is not ossified. F Pelvis, normal. Note short femoral necks (arrows). G Right hand with a rudimental postaxial extra finger (arrow). H Foot, note preaxial polydactyly (arrow).

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