[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.
Pankau
R
R
Universitäts-Kinderklinik, Kiel.
Johannson
W
W
Meinecke
P
P
D000293:Adolescent; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male
Das Brachmann-de Lange-Syndrom bei 16 eigenen Patienten.