Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001238:Asphyxia Neonatorum / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities*; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications*; D010375:Pedigree; D010388:Pelvis / Q000002:abnormalities*; D013909:Thorax / Q000002:abnormalities*