Barnes Syndrome.
- Author:
Eun Young KO
1
;
Dae Hyun LIM
;
Jung Hee KIM
;
Byong Kwan SON
Author Information
- Publication Type:Case Report
- Keywords: Barnes syndrome
- MeSH: Constriction, Pathologic; Diagnosis; Extremities; Laryngostenosis; Pelvic Bones; Pelvis; Penetrance; Thoracic Cavity; Wills
- From:Pediatric Allergy and Respiratory Disease 2002;12(2):154-159
- CountryRepublic of Korea
- Language:Korean
- Abstract: Barnes syndrome(thoracolaryngopelvic dysplasia) is an exceedingly rare clinical entity originally described in 1969. The diagnosis is made by clinical and radiologic findings including thoracic dystrophy, a small contracted pelvis and laryngeal and subglottic stenosis. It has many anatomic variances which are considered as the feature of autosomal dominant inheritance with variable penetrance. This syndrome is distinguished from the better known autosomal recessive Jeune syndrome(asphyxiating thoracic dystrophy) by the presence of laryngeal stenosis, the absence of iliac spurs in infancy, and later the absence of renal involvement or shortenings of the limbs. We report a Barnes syndrome with small thoracic cavity, subglottic stenosis and the absence of iliac spurs in pelvic bone with the review of the literature.
