Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.
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 (OFD) 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 subentity of OFD syndromes although overlapping features within the different subtypes make a precise classification very difficult.
Steichen-Gersdorf
E
E
Department of Pediatrics, Medical School, University of Inssbruck, Austria.
Gassner
I
I
Covi
B
B
Fischer
H
H
D003937:Diagnosis, Differential; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000145:classification* / Q000175:diagnosis; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000145:classification* / Q000175:diagnosis; D013577:Syndrome; D014135:Tracheal Stenosis / Q000145:classification / Q000175:diagnosis*