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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case

Fig. 2

Limb reduction defects Case 5: AP-X-ray of the entire foetus showing sirenomelia with two femora and tibiae, a single fused fibula and foot, and eight metatarsals and toes (toes 4 and 5 fused) as well as radial deviation of the right hand due to radial aplasia combined with a defect of the 1st metacarpal and the thumb, furthermore scoliosis of the spine and only 11 ribs (a). Case 3: Right hand displaying a rudimentary 1st metacarpal and hypoplastic thumb appendage (b). Case 4: Radial adduction of the right hand due to absence of the radius and bowing of the ulna (c). Case 8: End of the slightly shortened left forearm displaying a distal transverse reduction defect including absence of the hand and hand bones with rudimentary five phalanges within five finger buds (d)

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