[De Barsy-Moens-Dierckx syndrome: unusual course in a neonate].
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.
Schierenberg
M
M
Kinderklinik des Städt. Krankenhauses Kemperhof Koblenz.
Donné
W
W
Schiafone
P
P
Bald
R
R
Gembruch
U
U
Hansmann
M
M
Rister
M
M
D000015:Abnormalities, Multiple; D001833:Body Temperature Regulation; D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012640:Seizures / Q000150:complications; D012868:Skin Abnormalities; D013577:Syndrome
De Barsy-Moens-Dierckx-Syndrom: Ein ungewöhnlicher Verlauf bei einem Frühgeborenen.