title: Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.
abstract: We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a "Swedish 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 Calcium-Activated Nucleotidase 1 gene (CANT1). To our knowledge, this is the first report of Desbuquois dysplasia type 1 in Japan. Our experience suggests potential lethality in the disorder.
authors.affiliation: Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan; Division of Neonatology, Center for Maternal, Fetal and Neonatal Medicine, Fukuoka University Hospital, Fukuoka, Japan.
authors.forename: Shinkai
authors.initials: S
authors.lastname: Inoue
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ishii
authors.forename: Goro
authors.initials: G
authors.lastname: Shirotani
authors.forename: Makoto
authors.initials: M
authors.lastname: Tsutsumi
authors.forename: Eiji
authors.initials: E
authors.lastname: Ohta
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Nakamura
authors.forename: Toshiko
authors.initials: T
authors.lastname: Mori
authors.forename: Takahito
authors.initials: T
authors.lastname: Inoue
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ogawa
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
mesh_terms: D019465:Craniofacial Abnormalities; D004392:Dwarfism; D006801:Humans; D007231:Infant, Newborn; D007593:Joint Instability; D008297:Male; D009999:Ossification, Heterotopic; D017689:Polydactyly
keywords: CANT1 gene; Desbuquois dysplasia; diagnosis; fatal outcome; radiographic characterization