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Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism

Ronald D. Cohn, Gabriele Gillessen-Kaesbach, William B. Dobyns, Thomas Kahn, Hans G. Lenard, Thomas Voit*

*Corresponding author for this work

Abstract

A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.

Original languageEnglish
JournalAmerican Journal of Medical Genetics
Volume63
Issue number1
Pages (from-to)314-317
Number of pages4
ISSN0148-7299
DOIs
Publication statusPublished - 03.05.1996

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Research Areas and Centers

  • Research Area: Medical Genetics

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