Cornelia de Lange (Brachmann-de Lange) syndrome shows a variable phenotype with growth retardation,
facial dysmorphism including micrognathia, microbrachycephaly, small hands and feet, and mental
retardation. In an early report, in almost all convincing autosomal dominant cases the transmitting
parent was the
Die-Smulders C et al, 1992). However, paternal transmission (and a review of the inheritance
is provided by Russell
et al (2001).