TY - JOUR
T1 - Gomez–López–Hernández syndrome
T2 - A case report with clinical and molecular evaluation and literature review
AU - Perrone, Eduardo
AU - D'Almeida, Vânia
AU - de Macena Sobreira, Nara Lygia
AU - de Mello, Claudia Berlim
AU - de Oliveira, Allan Chiaratti
AU - Burlin, Stênio
AU - Soares, Maria de Fátima de Faria
AU - Cernach, Mirlene Cecília Soares Pinho
AU - Alvarez Perez, Ana Beatriz
N1 - Funding Information:
We thank the families for their participation and support. Our work was supported in part by a grant from the National Institutes of Health/National Human Genome Research Institute (1U54HG006542). We thank Joyce Yamamoto for her participation in extraction DNA procedures and Luiza do Amaral Virmond for her participation in reviewing the table.
Publisher Copyright:
© 2020 Wiley Periodicals, Inc.
PY - 2020/7/1
Y1 - 2020/7/1
N2 - 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.
AB - 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.
KW - GLH syndrome
KW - disruption
KW - misoprostol
KW - rhombencephalosynapsis
KW - trigeminal nerve
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U2 - 10.1002/ajmg.a.61594
DO - 10.1002/ajmg.a.61594
M3 - Article
C2 - 32302043
AN - SCOPUS:85083575863
SN - 1552-4825
VL - 182
SP - 1761
EP - 1766
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -