title: Brachydactyly type A1 with abnormal menisci and scoliosis in three generations.
abstract: We report a three-generation family in which four members had brachydactyly type A1, degenerative arthritis of the knee as a complication of abnormal menisci, and variable scoliosis. Nine of the 15 individuals in the two generations preceding the proband had brachydactyly. Three of these nine had degenerative arthritis of the knee including the proband's father who had meniscal degeneration with tears. One other had radiologically confirmed discoid menisci. Of those with brachydactyly, five also had scoliosis. Although autosomal dominant inheritance of brachydactyly A1 and discoid menisci have been reported separately, cosegregation of these features in one family has not previously been described and seems to comprise a unique autosomal dominant condition. The combination of brachydactyly, meniscal abnormalities including discoid meniscus, and scoliosis suggests that this disorder represents a new osteochondrodysplasia syndrome.
authors.affiliation: Department of Medicine, University of Washington School of Medicine, and Children's Hospital and Medical Center, Seattle 98195, USA.
authors.forename: M L
authors.initials: ML
authors.lastname: Raff
authors.forename: K A
authors.initials: KA
authors.lastname: Leppig
authors.forename: J C
authors.initials: JC
authors.lastname: Rutledge
authors.forename: E
authors.initials: E
authors.lastname: Weinberger
authors.forename: R A
authors.initials: RA
authors.lastname: Pagon
mesh_terms: D002648:Child; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications / Q000235:genetics*; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008592:Menisci, Tibial / Q000002:abnormalities*; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000235:genetics; D010375:Pedigree; D012600:Scoliosis / Q000150:complications / Q000235:genetics*; D013577:Syndrome