asphyxiating thoracic dystrophy

asphyxiating thoracic dystrophy
(ATD) a genetically heterogeneous, autosomal recessive syndrome characterized by chondrodystrophy of the rib cage that usually causes asphyxia early in the newborn period, in association with defects of the phalanges and pelvis. It can be caused by mutation at any of three loci: 15q13, 3q24-q26 (the IFT80 gene), and 11q13.5 (the DYNC2H1 gene). Called also Jeune syndrome and thoracic-pelvic-phalangeal dystrophy.

Medical dictionary. 2011.

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