Fraser-Like Syndrome

In an infant brother and sister born of unrelated parents, Mena et al. (1991) observed a similar and possibly unique set of congenital malformations. These included fused eyelids, craniofacial anomalies, ovarian cyst (in the female), subglottic stenosis, and specific digital abnormalities. Both infants had extension of metacarpophalangeal joints with flexion of the proximal interphalangeal joint of both index fingers with resulting overlap of the second digit over the third. Similar changes were noted in both second toes. Mena et al. (1991) concluded that the findings, although similar to those in the Fraser syndrome (219000), were sufficiently different to justify recognition as a distinct entity.