Radiusaplasie

A rare

association of crossed fused renal ectopia. AP radiograph of the upper limb showing absent radius with radially deviated hand.

A novel

malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review. Anteroposterior radiograph of the upper limbs after the reconstruction showed profound radial aplasia, metaphyseal cupping associated with hypoplastic/defective ossification of the carpal bones. Pseudoepiphyses with proximally situated newly reconstructed thumb. The patient had reconstruction of the thumbs with pollizisation of the second finger. This means a rotation-osteotomy of the second finger to the thumb position with reconstruction of the commissural between the new reconstructed thumbs and the second finger, which was originally the third finger.

Prenatal

diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. Clinical and radiologic findings. Frontal (A) and right lateral (B) views of the fetus showing flat nasal bridge with midly anteverted nares and receding chin. Severely shortened forearms, radial club hands and presence of thumbs. Magnification of the left hand (C) shows camptodactyly with bulbous ends, pterygium between wrist and the rhizomelic segment, and normally placed thumb. Babygram confirms the absence of both radii with hypoplastic and straight ulnae (D). Note normal ossification of the acral segment.