[De Barsy-Moens-Dierckx syndrome: unusual course in a neonate].

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.

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Schierenberg M,Donné W,Schiafone P,Bald R,Gembruch U,Hansmann M,Rister M

doi

10.1055/s-2008-1046648

subject

Has Abstract

pub_date

1994-11-01 00:00:00

pages

444-6

issue

6

eissn

0300-8630

issn

1439-3824

journal_volume

206

pub_type

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    doi:

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