• 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism
• Progressive Postnatal Pansynostosis
• Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13
• Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5: a previously apparently undescribed MCA/MR syndrome
• Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none?