Multiple skeletal anomalies in the "13q-" syndrome.
A patient with the "13q-" syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.
D001842:Bone and Bones / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D003025:Clubfoot / Q000235:genetics; D005260:Female; D006615:Hip / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007621:Karyotyping; D011631:Pubic Symphysis / Q000002:abnormalities; D016136:Spina Bifida Occulta / Q000235:genetics; D013933:Thumb / Q000002:abnormalities