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Case of D esbuquois dysplasia type 1: Potentially lethal skeletal dysplasia
Author(s) -
Inoue Shinkai,
Ishii Atsushi,
Shirotani Goro,
Tsutsumi Makoto,
Ohta Eiji,
Nakamura Masatoshi,
Mori Toshiko,
Inoue Takahito,
Nishimura Gen,
Ogawa Atsushi,
Hirose Shinichi
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12383
Subject(s) - medicine , ossification , failure to thrive , index finger , thumb , dysplasia , respiratory distress , anatomy , surgery , pathology , pediatrics
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.