Epidemiology of Cornelia De Lange's Syndrome

Abstract

A prevalence investigation of Cornelia de Lange's syndrome in Denmark is presented. The patients were traced by screening all institutional mentally retarded patients, patients in schools and kindergartens for imbecile patients and finally by getting information on Cornelia de Lange patients known to pediatric departments. In this way 24 patients, 10 men and 14 women, were found. This amounts to a population prevalence of 0.5/100 000. Clinical data, histories of the patients and genealogical data are presented by means of tables. The eldest patient was 49 years old, but 75% of the patients were younger than 20 years. Two of the probands were sibs. Another 2 sibs were registered as mentally retarded without specific syndromes. One case of consanguinity among parents was found. The mode of ascertainment is discussed and it is concluded that the present investigation presents a minimum prevalence figure. Four patients are presented who for various reasons were not available during the prevalence investigation proper. A prevalence figure of 0.6/100 000 is found if these 4 patients are included in the calculations. One of the last mentioned patients represented a familial case. The patient in question was a girl with a younger half-brother, the mother in common, both children being very typical cases of Cornella de Lange's syndrome.

Sixty‐four patients with Brachmann–de Lange syndrome: A survey

“…Our survey confirmed many of the findings previously documented in BDLS including absence of speech [Barr et al, 1971;Beck, 1976;Berg et al, 1970;Johnson et al, 19761, feeding [Barr et al, 1971;Beck, 1976;Begemen and Duggan, 19761 and behavioral p e r g et al, 1970;Johnson et al, 1976;Greenberg and Colesman, 19731 problems, and dental abnormalities [Barr et al, 1971, Begemen andDuggan, 1976;Berg et al, 19701. We also noted the presence of genital abnormalities in males and hearing loss.…”

“…Although one study [Motl and Opitz, 19711 has also reported a female preponderance for BDLS subjects, this has not been seen in other studies [Beck, , 1976;Halal and Preus, 19791. It is possible that heterogeneity of subjects, engendered by different diagnostic criteria in different surveys, could be responsible for the differences among surveys on this point.…”

Social Anxiety in Cornelia de Lange Syndrome

“…Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with an estimated prevalence of 1:50,000 births (Beck, 1976;Beck & Fenger, 1985) and is caused by a deletions on chromosomes 5, 10 and X Krantz et al, 2004;Tonkin, Wang, Lisgo, Bamshad & Strachan, 2004;Musio et al, 2006;Deardorff et al, 2007).…”

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

“…CdLS is a multiple congenital anomaly/mental retardation syndrome that was first described in 1933 by the Dutch pediatrician Cornelia de Lange, and is currently estimated to have a prevalence of 0.6-10 per 100,000 individuals [Silver, 1964;Beck, 1976;Filippi, 1989]. It is characterized by a widely varying phenotypic severity and its diagnosis is still typically clinical, although it has recently been reported that a significant proportion of CdLS patients carry a mutation in the NIPBL gene with a dominant pattern of inheritance Krantz et al, 2004].…”