Gomez-Lopez-Hernandez syndrome: Expansion of the phenotype

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosyn apsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now repor t a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, i s the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psych iatric problems including hyperactivity, depression, self-injurious behavio r and bipolar disorder. In addition, he has short stature and growth hormon e deficiency. Am. J. Med. Genet. 94: 405-408, 2000. (C) 2000 Wiley-Liss, In c.