Cerebrorenodigital Syndrome With Limb Malformations And Triradiate Acetabula

Franceschini et al. (2004) observed 2 male sibs with features suggestive of Meckel syndrome (see MKS; 249000), including occipital encephalocele, polycystic kidneys, and polydactyly, but who also had short, incurved distal long bones and triradiate acetabula. The latter feature had not previously been reported in MKS, nor had it been seen with occipital encephalocele. Franceschini et al. (2004) noted that although short and bowed limbs are seen in about 15% of MKS cases (Majewski et al., 1983), the severity, bilaterality, and absolute symmetry of lower limb malformations in both sibs and the association with triradiate acetabula suggested a distinct syndrome.