Gerald J. Kurlander

Roentgenology of the Brachmann-De Lange Syndrome1

The brachmann-de Lange syndrome is characterized by mental retardation, short stature, and a rather characteristic pattern of congenital anomalies (2, 13, 21–23). The appearance in this condition is so striking that in most cases the diagnosis can be made with an accuracy equal to or greater than in Downs syndrome, mongolism (18). Although the condition is best known as the Cornelia de Lange syndrome, the original description was made by Brachmann in 1916 (3). Apparently unaware of this earlier work, Cornelia de Lange, an Amsterdam pediatrician, published in 1933 a description of two infants with this disorder and coined the cumbersome name typus degenerativus Amstelodamensis (5). Since that time several cases have been reported in the European literature. It was not until 1962, however, that Ishmael and Laurence (14) referred to this syndrome in an English-language publication, The Chromosome Newsletter, The Brachmann-de Lange syndrome seems to be the more appropriate name (18, 19) for the condition, no...

Roentgenology of the Median Cleft Face Syndrome

In our continuing study of median craniofacial anomalies, we have found it convenient to subdivide cases on the basis of the interorbital distance. Orbital hypotelorism in combination with a proboscis or with a flat nose and median cleft lip reliably predict a brain that has failed to divide into cerebral hemispheres (holoprosencephaly) (3). The close correlation between face and brain in these patients prompted us to study the median facial anomalies associated with orbital hypertelorism (1). This communication reiterates the results of that study with emphasis on the roentgen characteristics. Classification and Roentgen Description Orbital hypertelorism occurs repeatedly with six other median facial anomalies: (a) low “V”-shaped frontal hairline, (b) cranium bifidum occultum frontalis, (c) primary telecanthus (lateral displacement of the medial canthi relative to the pupils), (d) median cleft nose, (e) median cleft prolabium2 and premaxilla,3 (f) median cleft secondary palate. In addition to these abnor...