Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Eduardo Perrone, Vânia D'Almeida, Nara Lygia de Macena Sobreira, Claudia Berlim de Mello, Allan Chiaratti de Oliveira, Stênio Burlin, Maria de Fátima de Faria Soares, Mirlene Cecília Soares Pinho Cernach, Ana Beatriz Alvarez Perez

Research output: Contribution to journalArticlepeer-review


Gomez–López–Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.

Original languageEnglish (US)
Pages (from-to)1761-1766
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
StatePublished - Jul 1 2020


  • GLH syndrome
  • disruption
  • misoprostol
  • rhombencephalosynapsis
  • trigeminal nerve

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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