Case of D esbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

We report a boy with D esbuquois dysplasia type 1. He had the typical skeletal changes: a “ S wedish key” appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra‐ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb. In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection, and sudden death in early childhood. Molecular analysis identified homozygous 1 bp deletion in the C alcium‐ A ctivated N ucleotidase 1 gene ( CANT1 ). To our knowledge, this is the first report of D esbuquois dysplasia type 1 in J apan. Our experience suggests potential lethality in the disorder.