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J Med Genet. 1986 Aug;23(4):345-9.

Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.

Abstract

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.

PMID:
3746836
[PubMed - indexed for MEDLINE]
PMCID:
PMC1049703
Free PMC Article
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