Summary
In 1963 Rubinstein and Taybi described a syndrome characterized by facial abnormalities, broad thumbs and broad great toes and mental retardation.
Five cases of this syndrome are presented, three with typical features, two which are considered to be abortive cases or formes frustes. Comparing these cases with others from the literature the following main symptoms are seen: retarded somatic development; microbrachycephaly, hypertelorism, antimongoloid slants, strabism, high arched palate, micrognathia. Thumbs and great toes are broad, often curved. In some cases additional abnormalities are found (foramina parietalia permagna, malformation of the spine, the heart, or kryptorchidism). In the pneumencephalogram we found in two patients a hypoplasia of the corpus callosum; therefore we assume that a malformation of the brain will be part of the syndrome.
The children with the Rubinstein-Taybi syndrome are severely retarded with a DQ or IQ below 50. They are socially adjusted, inclined to imitation, grimacing and laughing; the development of speech is markedly retarded, the psychomotoric activities are clumsy.
The etiology of the syndrome is not yet known.
Zusammenfassung
Das 1963 von Rubinstein u. Taybi erstmals beschriebene Syndrom ist durch Anomalien des Gesichts, Vorkommen von breiten Daumen und Großzehen sowie eine ausgeprägte geistige Retardierung gekennzeichnet.
An fünf eigenen Fällen wird das Erscheinungsbild des Syndroms dargestellt; bei drei Patienten sind die Symptome voll ausgeprägt, während zwei Fälle wahrscheinlich Abortivformen oder Varianten darstellen. Im Vergleich mit den bisher bekannten Fällen lassen sich folgende Hauptsymptome finden: Die körperliche Entwicklung ist verzögert; es besteht eine Mikrobrachycephalie; am Gesicht fallen Hypertelorismus, antimongoloid geneigte Lidachsen, Strabismus, hoher Gaumen und Mikrogenie auf. Daumen und Großzehen sind breit, kräftig und oft nach lateral oder medial hin geknickt. In einzelnen Fällen wurden zusätzliche Mißbildungen (Foramina parietalia permagna, Wirbelfehlbildung, Herzvitien, Kryptorchismus usw.) beobachtet. Im Pneumencephalogramm fanden wir bei zwei Patienten eine Hypoplasie des Corpus callosum; es ist deshalb anzunehmen, daß auch Fehlbildungen des Gehirns zum Erscheinungsbild des Syndroms gehören.
Die Kinder sind meist imbezill mit einem Entwicklungs- oder Intelligenzquotienten unter 50; in ihrem verhalten fallen Kontaktfreudigkeit, Neigung zu Imitation, Grimassieren und Lachen besonders auf; die Sprachentwicklung ist beträchtlich verzögert, die Feinmotorik ungeschickt, der Gang steif, breitbeinig und ungelenk.
Über die Ursache der Abartung ist bisher nichts bekannt.
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Herrn Professor Dr. med. Benno Romeis in Verehrung zum 80. Geburtstag gewidmet.
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Neuhäuser, G., Schulze, H. Das Rubinstein-Taybi-Syndrom. Z. Kinder-Heilk. 103, 90–108 (1968). https://doi.org/10.1007/BF00439744
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DOI: https://doi.org/10.1007/BF00439744