Ischiocoxopodopatellar syndrome

Definition:

Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients.

References:

[1]. E M Azouz, et al. Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. Pediatr Radiol. 1997 May;27(5):432-5. [Content Brief]

[2]. Ernie M H F Bongers, et al. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004 Jun;74(6):1239-48. [Content Brief]

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