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Heterogeneity of Chondrodysplasia punctata

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Summary

Based on the experience of the Kiel registry of bone dysplasias and on an extensive review of the literature, the clinical and genealogic data of two major types of Chondrodysplasia punctata are presented and discussed.

The Conradi-Hünermann type of C.p. with predominantly epiphyseal, frequently asymmetric calcifications and dysplastic skeletal changes was reported in combination with cataracts in 17% and with skin changes in 28% of cases. It has a relatively good prognosis and is possibly caused by a dominant mutation. Genetic heterogeneity and the influence of environmental factors cannot be excluded in this type.

The rhizomelic type of C.p. with severe, symmetrical proximal shortening of the extremities, and marked metaphyseal changes was reported to be combined with cataracts in 72% of the cases and with skin changes in 28%. It seems to be a lethal condition leading to death usually before the end of the first year of life. It is probably caused by the homozygous state of an autosomal gene.

Other types of Chondrodysplasia punctata possibly exist.

Chondrodysplasia punctata has been confused particularly with Zellweger's cerebrohepato-renal syndrome and with multicentric epiphyseal ossification in multiple epiphyseal dysplasia.

Zusammenfassung

Auf der Grundlage der Erfahrungen des Kieler Knochendysplasie-Registers sowie auf Grund einer ausführlichen Literaturübersicht werden die klinischen und genetischen Daten von zwei Haupttypen der Chondrodysplasia punctata dargestellt und diskutiert.

  1. 1.

    Conradi-Hünermann-Typ: Hier finden sich vor allem epiphysäre, häufig asymmetrische Calcifizierungen und dysplastische Skeletveränderungen. In 17% finden sich Katarakte, in 28% Hautveränderungen.

  2. 2.

    Rhizomeler Typ: Schwere, symmetrische, proximale Verkürzung der Extremitäten sowie deutliche Veränderungen der Metaphysen in Kombination mit Katarakt in 72% und Hautveränderungen in 28% der Fälle. Dieses Zustandsbild führt in der Regel vor Ende des 1. Lebensjahres zum Tode. Es ist wahrscheinlich durch Homozygotie eines autosomalen Gens verursacht.

Möglicherweise gibt es noch weitere Typen der Chondrodysplasia punctata.

Die Chondrodysplasia punctata wurde mit dem cerebro-hepato-renalen Syndrom (Zellweger) sowie mit den multizentrischen epiphysalen Ossifikationen bei der multiplen epiphysären Dysplasie verwechselt.

This work was completed during the tenure of a visiting professorship of J. S. at the Dept. of Pediatrics, Univ. of Wisconsin, Madison, Wisc.

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Authors and Affiliations

  1. Department of Pediatrics, University of Kiel, Germany

    J. W. Spranger & U. Bidder

  2. Department of Pediatrics, University of Wisconsin, Madison, Wisconsin

    J. W. Spranger & J. M. Opitz

  3. Department of Medical Genetics, University of Wisconsin, Madison, Wisconsin

    J. M. Opitz

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  1. J. W. Spranger
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Supported in part by Grants No. Sp 63/2 of the Deutsche Forschungsgemeinschaft and by NIH/PHS Grants GM 08217 and GM 15422 and by a Grant from the National Foundation-March of Dimes. Paper No. 1402 from the Genetics Laboratory, University of Wisconsin.

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Spranger, J.W., Opitz, J.M. & Bidder, U. Heterogeneity of Chondrodysplasia punctata. Hum Genet 11, 190–212 (1971). https://doi.org/10.1007/BF00274739

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