Lethal neonatal mandibuloacral dysplasia

Authors

  • Matthew D. Seftel,

    1. Departments of Human Genetics and Anatomical Pathology, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa
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  • Colleen A. Wright,

    1. Departments of Human Genetics and Anatomical Pathology, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa
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  • Patrick Li Wan Po,

    1. University of the Witwatersrand, and Olivedale Clinic, Johannesburg, South Africa
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  • Thomy J.L. de Ravel

    Corresponding author
    1. Departments of Human Genetics and Anatomical Pathology, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa
    • Department of Human Genetics, The South African Institute for Medical Research, P.O. Box 1038, 2000 Johannesburg, South Africa
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Abstract

We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this disorder. We propose that this neonatally lethal case represents severe expression of mandibuloacral dysplasia. © 1996 Wiley-Liss, Inc.

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