Oto‐onycho‐peroneal syndrome: Further delineation and first fetal report

We report on the sixth case and first fetal description of oto-onycho-peroneal syndrome (MIM 259780). This entity consists in the association of ear anomalies (-oto), hypoplastic nails (-onycho), hypoplastic or absent fibulae (-peroneal), and shoulder anomalies. Described for the first time by Leiba et al. [1975: Birth Defects 11:67–73] in a male patient, coined by Pfeiffer [1982: Eur J Pediatr 138:317–320], and confirmed by Devriendt et al. [1998: J Med Genet 35:508–509] this condition is most likely autosomal recessive, given the occurrence in sibs of both sexes with normal parents. © 2004 Wiley-Liss, Inc.