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MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES

MedGen UID:
906147
Concept ID:
C4225499
Disease or Syndrome
OMIM®: 610436

Recent clinical studies

Diagnosis

Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T
Birth Defects Res 2018 Apr 17;110(7):598-602. Epub 2018 Jan 22 doi: 10.1002/bdr2.1204. PMID: 29356416
Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, Sikkema-Raddatz B, van Ravenswaaij-Arts CM
Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27 doi: 10.1016/j.ejmg.2010.05.003. PMID: 20553986

Prognosis

Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS
Pediatr Res 2018 Sep;84(3):435-441. Epub 2018 Jun 4 doi: 10.1038/s41390-018-0083-z. PMID: 29967526Free PMC Article
Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, Sikkema-Raddatz B, van Ravenswaaij-Arts CM
Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27 doi: 10.1016/j.ejmg.2010.05.003. PMID: 20553986

Clinical prediction guides

Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T
Birth Defects Res 2018 Apr 17;110(7):598-602. Epub 2018 Jan 22 doi: 10.1002/bdr2.1204. PMID: 29356416
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A
Neurology 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. PMID: 19770472

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