Literature DB >> 8723127

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

R D Cohn1, G Gillessen-Kaesbach, W B Dobyns, T Kahn, H G Lenard, T Voit.   

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.

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Year:  1996        PMID: 8723127     DOI: 10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation.

Authors:  Ai Peng Tan; Kshitij Mankad
Journal:  Childs Nerv Syst       Date:  2017-10-24       Impact factor: 1.475

Review 2.  Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.

Authors:  Ai Peng Tan; Kshitij Mankad
Journal:  Childs Nerv Syst       Date:  2017-12-02       Impact factor: 1.475

  2 in total

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