Fig. 3

a Photograph of the full-term fetus of case 1. b Three-dimensional reconstructed skeleton based on the CT data. Although there was severely diminished bone calcification, CT images visualised extremely shortened ribs, short and small scapulae and iliac bones, and femoral and humeral bowing. c Sagittal T1-weighted MR image which showed a small foramen magnum with slight cranio-cervical caudal transition (green arrow), platyspondyly of the vertebra with short vertebral arches resulting in spinal canal stenosis (turquoise arrow). d Coronal T1-weighted MR images showed a severely hypoplastic thorax with presumably severe lung-hypoplasia. e Transverse T1-weighted MR image on the level of the femoral heads showed broad and irregular metaphyseal plates and extreme femoral bowing (green arrow) sometimes referred to as “telephone receiver” femora. f Transverse T1-weighted MR image of the brain which showed courser gyri of the temporal lobes (turquoise arrow) and excessive gyration of the occipital lobes (green arrow) and can be interpreted as polymicrogyria. Note the shrunken brain and small lungs which were both interpreted as normal post-mortem artefacts and probably strengthened by the formalin fixation. However, the presence of lung hypoplasia cannot be ruled out