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Article: Prenatal phenotype of Kabuki syndrome: A case series and literature review

TitlePrenatal phenotype of Kabuki syndrome: A case series and literature review
Authors
Keywordsexome sequencing
fetal ultrasound
Kabuki syndrome
prenatal diagnosis
prenatal phenotype
Issue Date2021
Citation
Prenatal Diagnosis, 2021, v. 41 n. 9, p. 1089-1100 How to Cite?
AbstractObjectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the literature on prenatal sonographic abnormalities associated with KS. Methods: We retrospectively reviewed the prenatal ultrasound findings of all mothers of children with molecularly confirmed KS in Hong Kong, between 1991 and 2019. We also performed systematic review of the literature to identify studies on the prenatal findings in KS. Results: We identified 11 cases with KS with detectable fetal ultrasound findings ranging from no detectable abnormalities to a variety of non-specific findings including increased nuchal translucency, pleural effusion, cardiac anomalies, renal anomalies, intrauterine growth restriction, polyhydramnios, oligohydramnios and single umbilical artery. In combining our cases with the 77 cases published, 42 (50.6%) of them had more than one abnormal antenatal ultrasound finding. The most frequent ultrasound features observed were cardiac anomalies (49.4%), followed by polyhydramnios (28.9%), genitourinary anomalies (26.5%), single umbilical artery (15.7%), intrauterine growth restriction (14.5%) and hydrops fetalis/pleural effusion/ascites (12.0%). Conclusions: These cases demonstrate the prenatal phenotypic heterogeneity associated with KS. Although the ultrasound abnormalities are non-specific, KS should be considered in the differential diagnosis when these fetal findings following normal microarray analysis/karyotyping.
Persistent Identifierhttp://hdl.handle.net/10722/313555
ISSN
2021 Impact Factor: 3.242
2020 SCImago Journal Rankings: 0.956
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorSo, PL-
dc.contributor.authorLuk, HM-
dc.contributor.authorCheung, KW-
dc.contributor.authorHui, W-
dc.contributor.authorChung, MY-
dc.contributor.authorMak, SLA-
dc.contributor.authorLok, WY-
dc.contributor.authorYu, KPT-
dc.contributor.authorCheng, SS.W.-
dc.contributor.authorHau, EW.L.-
dc.contributor.authorHo, S-
dc.contributor.authorLam, ST.S.-
dc.contributor.authorLo, IF.M.-
dc.date.accessioned2022-06-17T06:48:08Z-
dc.date.available2022-06-17T06:48:08Z-
dc.date.issued2021-
dc.identifier.citationPrenatal Diagnosis, 2021, v. 41 n. 9, p. 1089-1100-
dc.identifier.issn0197-3851-
dc.identifier.urihttp://hdl.handle.net/10722/313555-
dc.description.abstractObjectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the literature on prenatal sonographic abnormalities associated with KS. Methods: We retrospectively reviewed the prenatal ultrasound findings of all mothers of children with molecularly confirmed KS in Hong Kong, between 1991 and 2019. We also performed systematic review of the literature to identify studies on the prenatal findings in KS. Results: We identified 11 cases with KS with detectable fetal ultrasound findings ranging from no detectable abnormalities to a variety of non-specific findings including increased nuchal translucency, pleural effusion, cardiac anomalies, renal anomalies, intrauterine growth restriction, polyhydramnios, oligohydramnios and single umbilical artery. In combining our cases with the 77 cases published, 42 (50.6%) of them had more than one abnormal antenatal ultrasound finding. The most frequent ultrasound features observed were cardiac anomalies (49.4%), followed by polyhydramnios (28.9%), genitourinary anomalies (26.5%), single umbilical artery (15.7%), intrauterine growth restriction (14.5%) and hydrops fetalis/pleural effusion/ascites (12.0%). Conclusions: These cases demonstrate the prenatal phenotypic heterogeneity associated with KS. Although the ultrasound abnormalities are non-specific, KS should be considered in the differential diagnosis when these fetal findings following normal microarray analysis/karyotyping.-
dc.languageeng-
dc.relation.ispartofPrenatal Diagnosis-
dc.subjectexome sequencing-
dc.subjectfetal ultrasound-
dc.subjectKabuki syndrome-
dc.subjectprenatal diagnosis-
dc.subjectprenatal phenotype-
dc.titlePrenatal phenotype of Kabuki syndrome: A case series and literature review-
dc.typeArticle-
dc.identifier.doi10.1002/pd.5998-
dc.identifier.pmid34185329-
dc.identifier.scopuseid_2-s2.0-85109171740-
dc.identifier.hkuros333429-
dc.identifier.volume41-
dc.identifier.issue9-
dc.identifier.spage1089-
dc.identifier.epage1100-
dc.identifier.isiWOS:000669246800001-

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