title: Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
abstract: Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now report a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, is the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psychiatric problems including hyperactivity, depression, self-injurious behavior and bipolar disorder. In addition, he has short stature and growth hormone deficiency.
authors.affiliation: Divisions of Genetics, Tufts University School of Medicine, Floating Hospital for Children at New England Medical Center, Boston, Massachusetts 02111, USA.
authors.forename: D
authors.initials: D
authors.lastname: Brocks
authors.forename: M
authors.initials: M
authors.lastname: Irons
authors.forename: A
authors.initials: A
authors.lastname: Sadeghi-Najad
authors.forename: R
authors.initials: R
authors.lastname: McCauley
authors.forename: P
authors.initials: P
authors.lastname: Wheeler
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000505:Alopecia / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000473:pathology; D019382:Human Growth Hormone / Q000172:deficiency; D006801:Humans; D007223:Infant; D008297:Male; D012249:Rhombencephalon / Q000002:abnormalities*; D013577:Syndrome
chemical_list: D019382:Human Growth Hormone