Syndrome of microcephaly, Brachmann–de Lange-like facial changes, severe metatarsus adductus, and developmental delay: Mild Brachmann-de Lange syndrome?

Authors

  • Dr. Fahed Halal,

    Corresponding author
    1. Division of Medical Genetics, Montreal Children's Hospital, McGill University, Canada
    2. Department of Pediatrics, Hǒpital Notre-Dame and Hǒpital Ste-Justine, Université de Montréal, Montreal, Quebec, Canada
    • Division of Medical Genetics, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3
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  • Kenneth Silver

    1. Department of Neurology, Montreal Children's Hospital, McGill University, Canada
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Abstract

We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann–de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.

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