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Brachydactyly type A1 with abnormal menisci and scoliosis in three generations.
Clin Dysmorphol. 1998 Jan; 7(1):29-34.CD

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+Show Affiliations

Department of Medicine, University of Washington School of Medicine, and Children's Hospital and Medical Center, Seattle 98195, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9546827

Citation

Raff, M L., et al. "Brachydactyly Type A1 With Abnormal Menisci and Scoliosis in Three Generations." Clinical Dysmorphology, vol. 7, no. 1, 1998, pp. 29-34.
Raff ML, Leppig KA, Rutledge JC, et al. Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. Clin Dysmorphol. 1998;7(1):29-34.
Raff, M. L., Leppig, K. A., Rutledge, J. C., Weinberger, E., & Pagon, R. A. (1998). Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. Clinical Dysmorphology, 7(1), 29-34.
Raff ML, et al. Brachydactyly Type A1 With Abnormal Menisci and Scoliosis in Three Generations. Clin Dysmorphol. 1998;7(1):29-34. PubMed PMID: 9546827.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. AU - Raff,M L, AU - Leppig,K A, AU - Rutledge,J C, AU - Weinberger,E, AU - Pagon,R A, PY - 1998/4/18/pubmed PY - 1998/4/18/medline PY - 1998/4/18/entrez SP - 29 EP - 34 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 7 IS - 1 N2 - 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. SN - 0962-8827 UR - https://wwww.unboundmedicine.com/medline/citation/9546827/Brachydactyly_type_A1_with_abnormal_menisci_and_scoliosis_in_three_generations_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=9546827.ui DB - PRIME DP - Unbound Medicine ER -