Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome

The radiological findings in five patients with features of the ischio-pubic-patella syndrome are presented. All of these patients have genetic/cytogenetic evidence of campomelic dysplasia. The ischio-pubic-patella syndrome appears to be a distinct entity from the small patella syndrome as first described by Scott and Taor.1 The findings in the five presented cases with radiological evidence of the more severe ischio-pubic-patella syndrome but genetic/cytogenetic evidence of campomelic dysplasia suggests that they are the same condition, that of surviving campomelic dysplasia. Campomelic dysplasia should be considered in patients with the clinical and radiological features of the “ischio-pubic-patella syndrome”. Scott and Taor1 and Tato2 independently presented cases of defective ischio-pubic ossification and absent/hypoplastic patellae in 1979. In the former paper, 12 members of one family, all of whom had absent or hypoplastic patellae, were described and the authors coined the term the “small patella syndrome” for the condition. All seven in whom the information was available had abnormalities of the pelvis consisting of coxa vara or valga, buttressing of the femoral necks, hypoplastic lesser trochanters, and defective ischio-pubic junction ossification. In the single patient presented by Tato,2 there was bilateral agenesis of the ischia and patellae. Since then, 32 further patients have been described, and the term the “small patella syndrome” has been dropped in favour of the “ischio-pubic-patella syndrome”. A review of published reports shows much heterogeneity in the severity of the clinical and radiological features in the published cases, and raises the possibility that they may not represent a single entity. In the majority of cases reported with the ischio-pubic-patella syndrome, the facial appearance has not been described. It may be that these patients had no facial abnormality.