Brachmann‐de Lange syndrome. Delineation of the clinical phenotype

Abstract

A total of 31 cases previously diagnosed as having Brachmann-de Lange syndrome were ascertained and examined, of which 11 were thought to have been misdiagnosed. Of those correctly diagnosed, there appeared to be a phenotypic dichotomy with classical and mild cases. Those facial findings of greatest diagnostic value were the combination of the characteristic eyebrows, long philtrum, thin lips and crescent-shaped mouth. The characteristic eyebrows were neat, well defined and arched as though they had been pencilled. This combination of anomalies was absent in postpubertal males but not in postpubertal females. Facial abnormalities most likely to lead to incorrect use of the eponym were hypertrichosis, synophrys, and bushy eyebrows.

Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

“…CdLS (OMIM #122470, also known as Brachmann-de Lange syndrome) is estimated to occur at a frequency of 1 per 10,000 to 30,000 births and displays significant deficits in both physical and mental development (de Lange 1933;Ireland et al 1993;Jackson et al 1993;Opitz 1985). The deficits begin prenatally and continue after birth.…”

Temporal Bone CT Findings in Cornelia de Lange Syndrome

“…However, the fact that there is a milder form of the syndrome is generally accepted as increasing numbers of more mildly affected individuals are reported. 21,22 Overall, all 5 children with the clinical designation of classic Cornelia de Lange syndrome had combined inner and middle ear anomalies on their temporal bone CTs, and profound hearing loss was a characteristic feature for such patients in this study. Our findings suggest that temporal bone abnormalities may contribute to hearing loss in this syndrome and that children with more severe structural abnormalities on temporal bone CT scans show worse hearing levels.…”

New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation

“…TRC in these three brothers has not been reported in the literature. The disease shares some clinical features with mild Brachmann-de Lange syndrome, whose clinical manifestations are extremely variable, including microcephaly, craniofacial appearance, small hands, and borderline intelligence or mild mental retardation (Ireland et al 1993, Van Allen et al 1993. Postnatal growth retardation in our patients was mild.…”