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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

An unusual cardiomelic syndrome.

We report on a patient with pre- and postnatal growth retardation, bilateral symmetrical ulnar agenesis with monodactyly, atrial septal defect, two ventricular septal defects, Wolff-Parkinson-White conduction abnormality, and abnormal configuration of the pancreas. Although she had some facial features reminiscent of the Brachmann-de Lange syndrome, relatively normal head size and motor development indicate a distinct syndrome.[1]


  1. An unusual cardiomelic syndrome. Stratton, R.F., Koehler, N., Morrow, W.R. Am. J. Med. Genet. (1988) [Pubmed]
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