Multiple skeletal anomalies in the ?13q-? syndrome
Copyright policy )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.
Chromosome Aberrations, Hip, Infant, Pubic Symphysis, Chromosome Disorders, Spina Bifida Occulta, Bone and Bones, Clubfoot, Thumb, Karyotyping, Humans, Female, Chromosomes, Human, 13-15
Chromosome Aberrations, Hip, Infant, Pubic Symphysis, Chromosome Disorders, Spina Bifida Occulta, Bone and Bones, Clubfoot, Thumb, Karyotyping, Humans, Female, Chromosomes, Human, 13-15
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