The Coffin syndrome.
Two brothers with Coffin syndrome are presented and the fifteen other cases availabe in the literature are reviewed. The molecular defect causing this clinically recognizable syndrome is unknown, and the mode of inheritance may be a sex-linked recessive, but a sex-limited autosomal dominant or autosomal dominant with variable degree of expression cannot be fully excluded at the present time.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D004827:Epilepsy / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007738:Kyphosis / Q000175:diagnosis; D008297:Male; D012600:Scoliosis / Q000175:diagnosis; D013577:Syndrome