RT Journal Article
SR Electronic
T1 Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 345
OP 349
DO 10.1136/jmg.23.4.345
VO 23
IS 4
A1 Burn, J
A1 Hall, C
A1 Marsden, D
A1 Matthew, D J
YR 1986
UL http://jmg.bmj.com/content/23/4/345.abstract
AB We review a family in which a mother and two of her three children suffered a distinct syndrome of thoracic dystrophy with small chest volume, laryngeal stenosis, normal stature with variable asymmetry, asthenic build, and a small pelvis. In addition to the different inheritance pattern, this syndrome is distinguished from the better known Jeune syndrome by the differing thoracic and pelvic configuration.