Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome

Publisher Website
Google Scholar
Abstract
We present a female patient with laryngeal anomalies, tracheostenosis and pre-and postaxial polydactyly. Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital- (OFC) type II syndrome. Three similar cases of OFD syndrome with hypoplasia of the larynx, epiglottis and or trachea without tibial dysplasia have been previously reported by Silengo and Temtamy and McKusick. The present patient adds one more case to this group of variants of OFD syndrome. We believe that those cases may be considered to form a separate subentityof OFD syndromes although overlapping features within the different subtypes make a precise classification very difficult.

This publication has 0 references indexed in Scilit: