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Journal of Medical Genetics 2001;38:209-214; doi:10.1136/jmg.38.3.209
Copyright © 2001 by the BMJ Publishing Group Ltd.
J Med Genet 2001;38:209-214 ( March )

Letters to the editor

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

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EDITOR---The small patella syndrome (SPS, *MIM 14789), also known as ischiopatellar dysplasia, coxopodo patellar syndrome, or Scott-Taor syndrome, is a rare autosomal dominant disorder, characterised by a/hypoplasia of the patellae and various anomalies of the pelvis and feet. This syndrome was first described by Scott and Taor1 in 1979 in a large family with bilateral small or absent patellae accompanied by anomalies of the pelvic girdle and upper femora in most of the affected subjects. To our knowledge, 42 patients have been reported with this disorder,1-9 comprising 35 cases from five families and seven sporadic cases. This bone dysplasia is characterised by patellar a/hypoplasia and pelvic anomalies, including bilateral absent or delayed ossification of the ischiopubic junction and infra-acetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus. Various other skeletal anomalies have . . . [Full text of this article]


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