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Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.

We present a female infant with (1) abnormal facies: microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia; (2) congenital heart abnormalities: large atrial and ventricular septal defects; (3) congenital hypothyroidism; (4) severe glo...

詳細記述

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書誌詳細
主要な著者: Young, I D, Simpson, K
フォーマット: Artigo
言語:Inglês
出版事項: 1987
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050356/
https://ncbi.nlm.nih.gov/pubmed/3430551
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