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A new familial intrauterine growth retardation syndrome the “3-M syndrome”

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Abstract

Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently “new” entity which has been designated 3-M syndrome.

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Article Open access 17 September 2015

Sonja A. de Munnik, Elisabeth H. Hoefsloot, … Ernie MHF Bongers

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Authors and Affiliations

  1. Children's Hospital, University of Mainz, Mainz, Germany

    J. Spranger

  2. Department of Pediatrics and Wisconsin Clinical Genetics Center of the Department of Medical Genetics of the University of Wisconsin Center for Health Sciences and Medical School, 53706, Madison, Wisconsin, USA

    J. M. Opitz

  3. Nemazee Hospital, Pahlavi University, Shiraz, Iran

    A. Nourmand

Authors
  1. J. Spranger
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  2. J. M. Opitz
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  3. A. Nourmand
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Additional information

Supported, in part, by PHS/NIH Grant GM 20 130. Paper No. 1973 from the Genetics Laboratory, University of Wisconsin, Madison. Regarding the term “3-M Syndrome” see addendum.

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Spranger, J., Opitz, J.M. & Nourmand, A. A new familial intrauterine growth retardation syndrome the “3-M syndrome”. Eur J Pediatr 123, 115–124 (1976). https://doi.org/10.1007/BF00442641

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  • DOI: https://doi.org/10.1007/BF00442641

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