• A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation
• Association of severe microcephaly, short palpebral fissures, micrognathia, growth retardation and early death: a new syndrome
• Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation
• Infantile autism and the fragile X syndrome in Japanese children
• Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease
• Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
• Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1)
• Sibs lacking characteristic features of duplication of distal 17q