Evidence map›Paper›PMID 39911174›Full record

ArticleMolecular syndromology2025

Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the

Athanasios Gatsis, Maria Alvanou, Elisavet Christidou, Eleftheria Demertzidou, Aggeliki Kontou, Theodora Stathopoulou, Kosmas Sarafidis, Alexandros Sotiriadis, Athina Ververi

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Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Athanasios GatsisSchool of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Maria AlvanouCentre of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece.
Elisavet ChristidouSchool of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Eleftheria Demertzidou2nd Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.
Aggeliki Kontou1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.
Theodora Stathopoulou1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.
Kosmas Sarafidis1st Department of Neonatology and Neonatal Intensive Care, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.
Alexandros Sotiriadis2nd Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, Ippokrateion General Hospital, Thessaloniki, Greece.
Athina VerveriCentre of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Kabuki syndrome (KS) is a rare genetic disorder with a prevalence of 1/86,000-1/32,000. Pathogenic variants in the Case Presentation: This report highlights an interesting and infrequent case of a neonate with severe midface hypoplasia and multiple congenital anomalies, which were noted on the 2nd trimester antenatal scan. The degree of hypoplasia was indicative of chondrodysplasia punctata, but there was no relevant pregnancy history or other features of a skeletal dysplasia. The pregnancy was complicated by preterm premature rupture of membranes. The neonate was born at 27 weeks of gestation and died 16 days later, due to complications of prematurity. Whole exome sequencing identified a novel de novo Conclusion: Although midface hypoplasia has been previously reported in individuals with KS, the severity noted in the index individual is an unusual feature of the syndrome.

Indexed as

Binder phenotypeKabuki SyndromeKDM6A geneKMT2D geneMidface hypoplasiaNasomaxillary hypoplasiaPrenatal findings

Identifiers

PMID39911174
PMCPMC11793879

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.