Growth manifestations in the Brachmann‐de Lange syndrome

Abstract

We have obtained serial measurements on 180 patients with clinically confirmed Brachmann‐de Lange syndrome (BDLS) in order to derive standard growth curves. The patients were evaluated in our genetics department and through meetings of the Cornelia de Lange Syndrome Foundation, a support group for families of affected individuals. The data were obtained from the records of pediatricians, other physicians, schools and parents, as well as from personal examination on each of these patients at least once, often periodically. The growth curves include height, weight and head circumference measurements from birth through adulthood. Prenatal growth and birth weights are below the 5th centile in most (68%) cases, with an average birth weight of 2,277 g. Growth persists below the normal curves in most of the patients throughout life. Height velocity is equal to the normal range but there is slower pubertal growth. Weight velocity is below the normal range throughout life until late adolescence. Average head circumference remains below the second centile. Thin body habitus coupled with slow growth and proportionate small stature is a manifestation of the syndrome, but is commonly mistaken for failure to thrive. © 1993 Wiley‐Liss, Inc.

Neuropsychological rehabilitation in a case of Cornelia de Lange syndrome

“…On the contrary, cases reported in literature describe children with CdLS who are characterised by behaviour disorders that include attitudes of closure and isolation, compulsiveness, selfinjury and stereotypic behaviour (Johnson, Ekman, & Friesen, 1976;Kline et al, 1993b).…”

“…It is characterised by pre-and post-natal growth delay, developmental delay limb anomalies, and particular facial features (Kline, Barr, & Jackson, 1993b). Facial trait characteristics are synophrys, curly eyelashes, elongated philtrum, upturned nose with anteverted nostrils, thin downturned lips, and low set ears (Ireland, 1996;Ireland, Donnai, & Burn, 1993).…”

Cornelia de Lange Syndrome: A Variable Disorder of Cohesin Pathology

“…Postnatally, there is proportionate small stature with microcephaly, for which specific growth charts have been developed [18], although in milder cases, growth can overlap into the normal range.…”

Classical cornelia de lange syndrome

“…Average birth weight is 2.22kg for males and 2.14kg for females 5 . Severe learning difficulties (mental retardation) are noted in classical CDL syndrome.…”