Literature DB >> 8958320

Hemihypertrophy, hemimegalencephaly, and polydactyly.

W Reardon1, B Harding, R M Winter, M Baraitser.   

Abstract

We present clinical and neuropathological details of a patient with hemihypertrophy and hemimegalencephaly who may have Proteus syndrome. The observation of polysyndactyly in the case indicates either that polysyndactyly is a rare manifestation in Proteus syndrome, or that a separate condition, mimicking Proteus syndrome and pursuing a similar clinical course, might exist.

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Year:  1996        PMID: 8958320     DOI: 10.1002/(SICI)1096-8628(19961211)66:2<144::AID-AJMG4>3.0.CO;2-R

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


  3 in total

1.  Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

Authors:  Atsuko Harada; Fuyuki Miya; Hidetsuna Utsunomiya; Mitsuhiro Kato; Takumi Yamanaka; Tatsuhiko Tsunoda; Kenjiro Kosaki; Yonehiro Kanemura; Mami Yamasaki
Journal:  Childs Nerv Syst       Date:  2014-11-22       Impact factor: 1.475

2.  Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.

Authors:  Juan F Martínez-Lage; Encarna Guillén-Navarro; María-José Almagro; Matías Felipe-Murcia; Antonio López López-Guerrero; Marcelo Galarza
Journal:  Childs Nerv Syst       Date:  2009-09-10       Impact factor: 1.475

3.  Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

Authors:  Robert L Conway; Barry D Pressman; William B Dobyns; Moise Danielpour; John Lee; Pedro A Sanchez-Lara; Merlin G Butler; Elaine Zackai; Lindsey Campbell; Sulagna C Saitta; Carol L Clericuzio; Jeff M Milunsky; H Eugene Hoyme; Joseph Shieh; John B Moeschler; Barbara Crandall; Julie L Lauzon; David H Viskochil; Brian Harding; John M Graham
Journal:  Am J Med Genet A       Date:  2007-12-15       Impact factor: 2.802

  3 in total

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