Literature DB >> 9689997

Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case.

K Imaizumi1, T Ishii, M Masuno, Y Kuroki.   

Abstract

We describe a male patient with holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism. This rare association has previously been reported in two patients. We present a third case and propose a new association representing a distinguishable entity.

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Mesh：

Year:  1998        PMID： 9689997     DOI： 10.1097/00019605-199807000-00011

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  3 in total

1.  The middle interhemispheric variant of holoprosencephaly.

Authors:  Erin M Simon; Robert F Hevner; Joseph D Pinter; Nancy J Clegg; Mauricio Delgado; Stephen L Kinsman; Jin S Hahn; A James Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2002-01       Impact factor: 3.825

Review 2.  Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.

Authors:  Amelia A Keaton; Benjamin D Solomon; Anthonie J van Essen; Kathleen M Pfleghaar; Michael A Slama; Judith A Martin; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

3.  Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.

Authors:  Masaki Takagi; Tatsuya Miyoshi; Yuka Nagashima; Nao Shibata; Hiroko Yagi; Ryuji Fukuzawa; Tomonobu Hasegawa
Journal:  Hum Genome Var       Date:  2016-10-13
  3 in total

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