• Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature
• Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome
• Congenital agammaglobulinemia presenting with ecthyma gangrenosum
• Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)
• Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome?
• Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis
• Melkersson-Rosenthal syndrome
• Urodynamic manifestations associated with Ramsay-Hunt syndrome. Case report