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.
Bessieres-Grattagliano
Bettina
B
Department of Pathology, Institut de Puériculture et de Périnatalogie, Paris, France. bessieres.b@free.fr
Brodaty
Genevieve
G
Martinovic
Jelena
J
Fallet-Bianco
Catherine
C
Delezoide
Anne-Lise
AL
Daffos
Fernand
F
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008297:Male; D009264:Nails, Malformed; D011247:Pregnancy; D012782:Shoulder / Q000002:abnormalities; D013577:Syndrome; D014463:Ultrasonography