Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?
We report on a 5-generation family with multiple musculoskeletal anomalies, including: Robin-type cleft palate, rib "dysplasia," scapular hypoplasia, and pectus excavatum. Robin-type clefts are known to be associated with various skeletal malformations; however, most of these include limb anomalies which are not present in this family. To our knowledge, there are no reports of similar conditions in the literature. The transmission through 5 generations and the presence of male-to-male transmission are consistent with autosomal-dominant transmission of a trait with variable expressivity.
Stalker
H J
HJ
Division of Pediatric Genetics, University of Florida Health Science Center, Gainesville 32610, USA.
Zori
R T
RT
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005660:Funnel Chest / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010855:Pierre Robin Syndrome / Q000235:genetics*; D012272:Ribs / Q000002:abnormalities*; D012540:Scapula / Q000002:abnormalities*; D013577:Syndrome