Definition and diagnosis of the Brachmann–De Lange syndrome

Abstract

We have classified patients referred for suspicion of the Brachmann-De Lange syndrome (BDLS) into two groups using techniques of numerical taxonomy. Patients with the syndrome share an array of abnormal characteristics, and those without it have different abnormal characteristics. A group of 30 characters that best distinguish the two groups of patients was used to construct a diagnostic index. The index score is expected to divide 99% of patients into those with and without the syndrome, leaving 1% in a "zone of doubt." All 46 patients used to construct the index and 16 new patients had scores in either the BDLS or non-BDLS range and none were in the zone of doubt. A previously published index using metacarpal-phalangeal measurements, although less discriminatory, confirmed our findings in 84% of 25 patients tested, the remainder having scores in the zone of doubt for that index.

Ophthalmologic Findings in the Cornelia de Lange Syndrome

“…Synophrys is apparent in 85-100% of CdLS patients. 1,[2][3][4][5][6][7][8][13][14][15][16][17]19,[21][22][23][24][25] In the present study, we found synophrys to be present in 99% of the children. Only 4 children did not have this finding.…”

“…2,6,23 In our study PFL was not measured directly in any of the patients, although direct measurement may be more desirable because it does not introduce an error that is obtained by using both the OCD and ICD in the formula. We are not aware of normal standards for Caucasians using direct or calculated PFL measurements.…”

Zimmer phocomelia: Delineation by principal coordinate analysis

“…In order to better define the phenotypic relationships between the pattern of malformation in the case herein described and that seen in Zimmer's family, DK phocomelia, Al-Awadmaas-Rothschild syndrome, Schinzel phocomelia, and the various unclassified cases, we have used the numerical taxonomy which was initially applied to dysmorphogenesis by Preus [Preus and Rex, 1983;Aym6 and Preus 1984;Preus et al, 19851 and reintroduced by Verloes [ 19951. Principal coordinate analysis is a technique for providing a geometrical representation of "distances" between individuals in multidimensional space (that is, how unlike each of N individuals of a sample is in relation to each other assessed on p variables; "individuals" corresponds to each of phocomelic conditions and "variable" to phenotypic severZimmer phocomelia including facial cleft, "dysplastic" ears, genital abnormality, kidney agenesis, and pulmonary hypoplasia.…”

Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

“…Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome named after a Dutch pediatrician who described two cases in 1933 [ de Lange, 1933] although earlier pathology reports by Brachmann have led to the alternate eponym Brachmann-de Lange syndrome. The main diagnostic features of this syndrome are pre-and post-natal growth retardation, variable developmental delay, characteristic facies, and limb anomalies [Preus and Rex, 1983;Benson, 2002;Bhuiyan et al, 2005;Jones, 2006]. Associated signs include hearing loss and speech deficits, dental problems, ocular abnormalities [Levin et al, 1990], cardiac defects [Tsukahara, 1998], cleft palate, gastrointestinal abnormalities (including reflux) and autistic, and self-injurious behaviors [Berney et al, 1999].…”