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Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review
Author(s) -
Perrone Eduardo,
D'Almeida Vânia,
Macena Sobreira Nara Lygia,
Mello Claudia Berlim,
Oliveira Allan Chiaratti,
Burlin Stênio,
Soares Maria de Fátima de Faria,
Cernach Mirlene Cecília Soares Pinho,
Alvarez Perez Ana Beatriz
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61594
Subject(s) - medicine , etiology , craniofacial , craniofacial abnormality , pregnancy , phenotype , dermatology , pathology , biology , genetics , psychiatry , gene
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.