Gomez-Lopez-Hernandez syndrome: Expansion of the phenotype

Daniel Brocks, Mira Irons, Ab Sadeghi-Najad, Roy McCauley, Patricia Wheeler*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

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.(C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)405-408
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume94
Issue number5
DOIs
StatePublished - Oct 23 2000
Externally publishedYes

Keywords

  • Bipolar disorder
  • Cerebello-trigeminal-dermal dysplasia
  • Depression
  • Growth hormone
  • Hyperactivity
  • Self-injurious behavior

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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