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Ann Genet 1984;27(2):79-82 Related Articles, Links

[Oto-palato-digital type II syndrome]

[Article in French]

Kaplan J, Maroteaux P.

A new case of the recently described oto-palato-digital type II is reported. The authors
insist on the characteristic anomalies, the facial dysmorphism, the overlapping and deviation
of the digits, the proximal implantation and hypoplasia of the big toe, and the deafness.
Radiologically, the massive appearance of the bones, their incurvation, their defective
modeling are characteristic of the syndrome. Life expectancy is often reduced. X-linked
inheritance with minor stigmata in the heterozygous females is well established.

PMID: 6331793 [PubMed - indexed for MEDLINE]