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[De Barsy-Moens-Dierckx syndrome: unusual course in a neonate]
M Schierenberg1, W Donné, P Schiafone
1Kinderklinik des Städt. Krankenhauses Kemperhof Koblenz.
Klinische Padiatrie
|November 1, 1994
Abstract:
We report about a premature infant with a De Barsy-Moens-Dierckx-syndrome, which is a rare cutaneo-oculo-cerebral malformation-syndrome. It is defined by the combination of a progeroid aspect, cutis laxa, growth retardation, cornea clouding, mental retardation and athetoid movements. Furthermore, the reported case showed a remarkable thermolability and suffered from generalised seizures resistant to therapy. Despite extensive sonographic examinations the prepartal diagnosis seems to be very difficult.