Oto-onycho-peroneal syndrome: further delineation and first fetal report

American Journal of Medical Genetics. Part a
Bettina Bessieres-GrattaglianoFernand Daffos

Abstract

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.

References

Jul 1, 1982·European Journal of Pediatrics·R A Pfeiffer
Jun 27, 1998·Journal of Medical Genetics·K DevriendtJ P Fryns

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Citations

Jul 13, 2005·Prenatal Diagnosis

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