Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up |
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Authors: | König Rainer Beeg Thomas Tariverdian Gholamali Scheffer Hans Bitter Klaus |
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Affiliation: | Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany. r.koenig@uni-frankfurt.de |
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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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