Prenatal Diagnosis of Gómez-López-Hernández Syndrome.

Female Pregnancy Humans Micrognathism / diagnostic imaging Cerebellum Craniofacial Abnormalities / diagnostic imaging Alopecia / diagnosis Prenatal Diagnosis
Cerebellum Gómez-López-Hernández syndrome Neurosonography Rhombencephalosynapsis Ventriculomegaly

Journal

Fetal diagnosis and therapy
ISSN: 1421-9964
Titre abrégé: Fetal Diagn Ther
Pays: Switzerland
ID NLM: 9107463

Informations de publication

Date de publication:
2023
Historique:
received: 20 01 2023
accepted: 04 04 2023
medline: 13 7 2023
pubmed: 17 4 2023
entrez: 16 4 2023
Statut: ppublish

Résumé

Gómez-López-Hernández syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is an extremely rare neurocutaneous disease, classically described by the triad of rhombencephalosynapsis (RES), bilateral focal alopecia, and trigeminal anesthesia. The clinical and radiographic spectrum of GLHS is now known to be broader, including craniofacial and supratentorial anomalies, as well as neurodevelopmental issues. Here, we present a case of antenatally diagnosed GLHS with RES, hydrocephaly, and craniofacial anomalies identified on ultrasound (low-set ears with posterior rotation, hypertelorism, midface hypoplasia, micrognathia, and anteverted nares) which were confirmed by autopsy after termination of pregnancy at 23 weeks of gestation. As no known genetic causes have been identified and the classical triad is not applicable to prenatal imaging, prenatal diagnosis of GLHS is based on neuroimaging and the identification of supporting features. In presence of an RES associated with craniofacial abnormalities in prenatal (brachycephaly, turricephaly, low-set ears, midface retrusion, micrognathia), GLHS should be considered as "possible" according to postnatal criteria.

Identifiants

DOI: 10.1159/000530643 PMID: 37062278
pubmed: 37062278
pii: 000530643
doi: 10.1159/000530643
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

92-97

Informations de copyright

© 2023 The Author(s). Published by S. Karger AG, Basel.

Auteurs

Leo Pomar (L)

Ultrasound and Fetal Medicine Unit, Department Woman-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
School of Health Sciences (HESAV), HES-SO University of Applied Sciences and Arts Western Switzerland, Lausanne, Switzerland.

Wawrzyniec Rieder (W)

Ultrasound and Fetal Medicine Unit, Department Woman-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Estelle Dubruc (E)

Department of Pathology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Fabienne Giuliano (F)

Department of Medical Genetics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Isis Atallah (I)

Department of Medical Genetics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Sébastien Lebon (S)

Pediatric Neurology Unit, Department Woman-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Yvan Vial (Y)

Ultrasound and Fetal Medicine Unit, Department Woman-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

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Classifications MeSH

questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations maxillofaciales › Malformations de la mâchoire › Micrognathisme › Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Tronc cérébral › Rhombencéphale › Métencéphale › Cervelet › Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Malformations crâniofaciales › Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
questionsmedicales.fr › États, signes et symptômes pathologiques › États anatomopathologiques › Alopécie › Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Prenatal Diagnosis of Gómez-López-Hernández Syndrome.