Habel (1974) described an Edinburgh family in which 5 infants (4 females, 1 male) in 4 sibships were found to have consistently abnormal facial appearance, true or apparent hydrocephalus, retardation in motor and mental development, failure to thrive, ... Habel (1974) described an Edinburgh family in which 5 infants (4 females, 1 male) in 4 sibships were found to have consistently abnormal facial appearance, true or apparent hydrocephalus, retardation in motor and mental development, failure to thrive, and death in the first months of life. Unexplained neonatal hyperbilirubinemia and advanced bone age may be features. The affected infants were related as first cousins or first cousins once removed and there was no consanguinity in the family. A carp mouth and hairiness of the forehead suggested the Cornelia de Lange syndrome. A chromosomal abnormality was postulated.