GROWTH MANIFESTATIONS IN THE BRACHMANN-DELANGE SYNDROME

We have obtained serial measurements on 180 patients with clinically c onfirmed Brachmann-de Lange syndrome (BDLS) in order to derive standar d growth curves. The patients were evaluated in our genetics departmen t and through meetings of the Cornelia de Lange Syndrome Foundation, a support group for families of affected individuals. The data were obt ained from the records of pediatricians, other physicians, schools and parents, as well as from personal examination on each of these patien ts at least once, often periodically. The growth curves include height , weight and head circumference measurements from birth through adulth ood. Prenatal growth and birth weights are below the 5th centile in mo st (68%) cases, with an average birth weight of 2,277 g. Growth persis ts below the normal curves in most of the patients throughout life. He ight velocity is equal to the normal range but there is slower puberta l growth. Weight velocity is below the normal range throughout life un til late adolescence. Average head circumference remains below the sec ond centile. Thin body habitus coupled with slow growth and proportion ate small stature is a manifestation of the syndrome, but is commonly mistaken for failure to thrive. (C) 1993 Wiley-Liss, Inc.