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

Research output: Contribution to journalArticle

4 Scopus citations

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 (US)
Pages (from-to)314-317
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume63
Issue number1
DOIs
StatePublished - May 3 1996

Keywords

  • adducted thumb
  • brachymicrocephaly
  • early death
  • lissencephaly
  • micropenis
  • polymicrogyria
  • progeria

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