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

Am J Med Genet A. 2020 Jul;182(7):1761-1766. doi: 10.1002/ajmg.a.61594. Epub 2020 Apr 17.

Abstract

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.

Keywords: GLH syndrome; disruption; misoprostol; rhombencephalosynapsis; trigeminal nerve.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / drug therapy*
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Alopecia / diagnostic imaging
  • Alopecia / drug therapy
  • Alopecia / genetics*
  • Alopecia / pathology
  • Cerebellum / abnormalities*
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / drug therapy*
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Female
  • Growth Disorders / diagnostic imaging
  • Growth Disorders / drug therapy*
  • Growth Disorders / genetics*
  • Growth Disorders / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Misoprostol / therapeutic use*
  • Neurocutaneous Syndromes / diagnostic imaging
  • Neurocutaneous Syndromes / drug therapy*
  • Neurocutaneous Syndromes / genetics*
  • Neurocutaneous Syndromes / pathology
  • Phenotype
  • Rhombencephalon / diagnostic imaging
  • Rhombencephalon / pathology
  • Trigeminal Nerve / diagnostic imaging
  • Trigeminal Nerve / drug effects
  • Trigeminal Nerve / pathology

Substances

  • Misoprostol

Supplementary concepts

  • Gomez Lopez Hernandez syndrome