[The Brachmann-de Lange syndrome].
On occasion of the 120th anniversary of Cornelia de Lange's birth, the recognized Dutch pediatrician, and the 40th anniversary of her death, we report a case with Brachmann-de Lange syndrome. The patient was hospitalised several times, immediately after the birth, within the 3rd year of life, and finally at the age of 13 years. The diagnosis was already established in the neonatal period by relevant symptomes. The phenotypical variations remained unchanged during that period and the patient presented with a great number of symptoms typical for this entity. The characteristics of the head and face were specially prominent, then the anomalies of the upper extremities and malrotation of the intestines. Since there is a great similarity with other syndromes, karyogram is indispensable for the diagnosis of this condition.
Jelić
N
N
Medicinski centar Slavonski Brod.
Grcević
S
S
Jelić
A
A
D000293:Adolescent; D003635:De Lange Syndrome / Q000175:diagnosis; D006801:Humans; D008297:Male
Brachmann-de Lange sindrom.