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Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan

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Abstract

Four examples of short rib-polydactyly syndromes are described. Case 1 represents the Majewski type, and the other three are examples of the Saldino-Noonan type. Both conditions are true multiple congenital anomaly syndromes and neonatally lethal forms of dwarfism with a narrow thorax, polydactyly and associated visceral malformations. They are probably caused by the homozygous state of different autosomal recessive genes. They must be differentiated from similar conditions such as chondroectodermal dysplasia, asphyxiating thoracic dysplasia, the Meckel syndrome and the trisomy 13 syndrome.

The short rib-polydactyly syndrome type Majewski is characterized by thoracic dystrophy, pre- and postaxial polydactyly, mesomelic brachymelia and cleft lip and/or palate. Skull, vertebral column and pelvis are not markedly affected. Associated features include polycystic kidneys, hypolastic epiglottis and lungs, and various malformations of the cardiovascular system, genitalia and the central nervous system.

The short rib-polydactyly syndrome type Saldino-Noonan is characterized by thoracic dystrophy, postaxial polydactyly, severely shortened, flipper-like extremities and a striking metaphyseal dysplasia of the tubular bones. The ossification of the calvaria, vertebral column, pelvis and short bones of the hands and feet is defective. Associated features occurring in varying frequency include polycystic kidneys, transposition of the great vessels and atretic lesions of the gastrointestinal and genitourinary systems.

Zusammenfassung

Es wird über 4 Fälle mit Thoraxdysplasie-Polydaktylie-Syndromen berichtet. Fall 1 wird dem Majewski-Typ, die Fälle 2–4 werden dem Saldino-Noonan-Typ dieser Syndrome zugeordnet. Es handelt sich um letale Zwerg-wuchsformen mit eigenartigen Mißbildungsmustern. Sie sind wahrscheinlich durch Homozygotie autosomal recessiver Gene bedingt. Differentialdiagnostisch sind sie in erster Linie von der chondroektodermalen Dysplasie (Ellis-van Creveld-Syndrom), der asphyxierenden Thoraxdysplasie, dem Meckel-Syndrom und der Trisomie 13 abzugrenzen.

Der Majewski-Typ der Thoraxdysplasie-Polydaktylie-Syndrome ist charakterisiert durch kurze Rippen, prä- und postaxiale Polydaktylie, eine mesomele Brachymelie und Spaltbildungen im Lippen-Kiefer-Gaumen-Bereich. Weitere Merkmale sind Nierencysten, eine Hypoplasie von Epiglottis und Lungen, verschiedene Fehlbildungen von Herz, großen Gefäßen, Zentralnervensystem und Genitalien.

Der Saldino-Noonan-Typ der Thoraxdysplasie-Polydaktylie-Syndrome ist gekennzeichnet durch kurze Rippen, postaxiale Polydaktylie, eine schwere Verkürzung der Gliedmaßen und eine ausgeprägte metaphysäre Dysplasie der Röhrenknochen. Es bestehen erhebliche Ossifikationsstörungen der kurzen Röhrenknochen, leichtere der Schädelkalotte und Wirbelkörper. Das Becken ähnelt dem bei der chondroektodermalen Dysplasie und der asphyxierenden Thoraxdysplasie. Begleitfehlbildungen sind Nierencysten, Transposition der großen Gefäße und Atresien im Bereich des Gastrointestinal- und Urogenitaltrakts.

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Authors and Affiliations

  1. Children's Hospital, University of Kiel, Federal Republic of Germany

    J. Spranger & B. Grimm

  2. Department of Radiology, University of California Medical School, San Diego, Calif.

    M. Weller

  3. Children's Hospital, University of Vienna, Austria

    G. Weißenbacher

  4. Department of Pediatrics, University of Wisconsin, Madison, Wisc., USA

    J. Herrmann

  5. Department of Pathology, University of Wisconsin, Madison, Wisc., USA

    E. Gilbert

  6. Department of Pathology, University of Vienna, Austria

    R. Krepler

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  1. J. Spranger
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  2. B. Grimm
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  3. M. Weller
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  4. G. Weißenbacher
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  5. J. Herrmann
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  6. E. Gilbert
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  7. R. Krepler
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Spranger, J., Grimm, B., Weller, M. et al. Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z. Kinder-Heilk. 116, 73–94 (1974). https://doi.org/10.1007/BF00491508

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  • DOI: https://doi.org/10.1007/BF00491508

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