Literature DB >> 14564207

Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up.

Rainer König1, Thomas Beeg, Gholamali Tariverdian, Hans Scheffer, Klaus Bitter.   

Abstract

We describe a male patient with lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, a syndrome which has been seen previously in only six patients. In addition, our patient developed hypernatraemia, which has been described in three patients before.

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Year:  2003        PMID： 14564207     DOI： 10.1097/00019605-200310000-00002

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


  3 in total

1.  Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.

Authors:  Dezso David; Bárbara Marques; Cristina Ferreira; Paula Vieira; Alfredo Corona-Rivera; José Carlos Ferreira; Hans van Bokhoven
Journal:  Eur J Hum Genet       Date:  2009-02-18       Impact factor: 4.246

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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