[Brachmann-de Lange syndrome in 16 of our patients]

The Brachmann-de Lange-syndrome (Cornelia de Lange-syndrome) belongs to the group of well established multiple congenital anomalies/mental retardation syndromes. The main features are a characteristic dysmorphic face, short stature, defects mainly of the upper limbs and severe psychomotor retardation. A variety of internal anomalies belongs to the non obligatory features of the syndrome. Based on 16 own observations (7 females, 9 males) aged between 1 day and 16 years, we describe the clinical variability of the Brachmann-de Lange-syndrome. Relatively poor prognosis is shown by the fact that up to now 6 of the patients have died.