A congenital syndrome characterised by an association of polydactyly with genital abnormalities, as well as ear deformities, deafness, rudimentary toes, clubfoot, partial atresia of the anus, hypospadia, and masklike facies. Sporadic occurrence.
Feichtiger in 1943 and Ullrich in 1951, before the introduction of cytogenetic investigations, described patients with the clinical findings of trisomy 13. The discovery of the chromosomal aberration as cause of the clinical picture made the term obsolete.
Bartholin-Patau syndrome is entered as a separate entity, under Thomas Bartholin, Danish physician, naturalist, physiologist and anatomist, 1616, 1680.
See also Meyer-Schwickerath and Weyers syndrome, or oculodentodigital syndrome, under Gerhard Rudolph Edmund Meyer-Schwickerath, German ophthalmologist, born 1920.
- H. Feichtiger:
Ein neuer, typischer, vorwiegend der Akren betreffender Fehlbildungskomplex.
Thesis; Rostock, 1943.
- O. Ullrich:
Der Status Bonnevie-Ullrich im Rahmen anderer “Dyscranio-Dysphalangien.”
Ergebnisse der inneren Medizin und Kinderheilkunde, Berlin 1951, NF 2: 412-466.