Beales et al. (2007) reported 3 consanguineous families with a form of asphyxiating thoracic dystrophy: 2 families were from Pakistan and 1 was from Turkey. The Turkish child had a narrow chest, short femora, and postaxial polydactyly on ... Beales et al. (2007) reported 3 consanguineous families with a form of asphyxiating thoracic dystrophy: 2 families were from Pakistan and 1 was from Turkey. The Turkish child had a narrow chest, short femora, and postaxial polydactyly on the hands and feet. One of the Pakistani families had 2 affected children. One child had short femora, narrow chest, and brachydactyly with broad hands and small feet. Skeletal survey showed trident acetabular roofs, mild bowing of the femurs, and small middle phalanges. The second child in this family had short femora, narrow chest, and rhizomelic limb shortening. Neither child had internal organ abnormalities or neonatal respiratory problems. The proband in the second Pakistani family was born stillborn at 20 weeks' gestation due to chorioamnionitis. Autoradiography showed mesomelic shortening of the lower limb with curved femora and trident acetabular roofs. There was no polydactyly, but the hands had short middle phalanges and metacarpals. There were no internal organ abnormalities. Tuysuz et al. (2009) reported a patient with ATD2 due to the H105Q mutation in the IFT80 gene (611177.0001) who had atlantoaxial instability and spinal cord compression.
In affected members of 3 consanguineous families with ATD2, Beales et al. (2007) identified 3 different homozygous mutations in the IFT8 gene (611177.0001-611177.0003).