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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...

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Bibliografiske detaljer
Main Authors: Young, I D, Simpson, K
Format: Artigo
Sprog:Inglês
Udgivet: 1987
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050356/
https://ncbi.nlm.nih.gov/pubmed/3430551
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