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

UGT1A7 and colorectal cancer susceptibility

“…3 This suggests that some of the cases reported as the more severe form of IPP may be surviving campomelic dysplasia. The radiological features in these five patients are characteristic and described in detail by Offiah et al 3 All five of the patients described here have the characteristic radiological features of IPP but have genetic or cytogenetic evidence of CMD. We believe that the IPP syndrome is a heterogeneous group.…”

“…Radiographic findings include defective ischiopubic ossification (fig 2B, Offiah et al 3 ), narrow iliac bones, anterior bowing of the tibia, disproportionately short fibulae, and hypoplastic distal tibial epiphyses ( fig 5). There was a double curve scoliosis with segmentation defects of the mid-dorsal spine, narrow iliac bones, and hypoplastic scapulae.…”

New insights in congenital bowing of the femora

“…5). The phenotype of the CD survivors is very similar to that of patients with ischio-pubic-patella syndrome which is characterized by hypoplasia of the ischial rami, abnormal ischiopubic synchondrosis, hypoplastic patella, abnormal shape of the calcaneus, tarsal coalition, and shortening of the fourth and fifth metacarpals and 2d phalanges (25)(26)(27)(28). There is also a major overlap with ischio-vertebral dysplasia which was first delineated by Dubousset et al (30) in a series of 11 cases characterized by retrognathia, cleft palate, uncomplete ossification of the ischion, and dysplastic scoliosis with significant kyphosis.…”

Mild Campomelic Dysplasia: Report on a Case and Review

“…Few long-term survivors with CD have been reported [Houston et al, 1983;Gillerot et al, 1989;Meyer et al, 1997;Pfeifer et al, 1999;Giordano et al, 2001;Moog et al, 2001;Mansour et al, 2002;Offiah et al, 2002;Savarirayan et al, 2003;Sock et al, 2003;Hill-Harfe et al, 2005;Velagaleti et al, 2005;Lekovic et al, 2006;Leipoldt et al, 2007;Wada et al, 2009;Staffler et al, 2010]. In general, they share common facial features such as relative macrocephaly, depressed nasal bridge, hypertelorism, high or cleft palate, long philtrum, low-set ears, and micrognathia Offiah et al, 2002;Wada et al, 2009] ( table 1 ).…”

“…In general, they share common facial features such as relative macrocephaly, depressed nasal bridge, hypertelorism, high or cleft palate, long philtrum, low-set ears, and micrognathia Offiah et al, 2002;Wada et al, 2009] ( table 1 ). On X-rays, hypoplastic scapulae, defective ischiopubic ossification, hypoplastic patellae, and spinal dysraphism can be seen.…”