title: Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
abstract: Kabuki syndrome (MIM 147920) is a well-described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and vertebral anomalies, as well as persistent fetal finger pads and distinct facial features. Facies are characterized by long palpebral fissures with eversion of lateral third of the lower eyelid, resembling the "Kabuki make-up" theatre genre after which the syndrome is named. Kabuki syndrome is estimated to affect 1/32,000 births, with 55-80% of patients showing nonsense or frameshift mutations in the KMT2D (MLL2) gene, which encodes a histone transferase located on chromosome 12q. Additionally, owing to the heterogeneous nature of Kabuki syndrome, a smaller number of diagnosed patients have been identified with mutations or deletions in KDM6A (a component of the same transcriptional complex as KMT2D) with no mutations in KMT2D, or as those diagnosed with Kabuki syndrome and without alterations in either KMT2D or KDM6A. Diagnosis of the syndrome in newborns and infants is difficult, as the facial features are not as evident as in toddler- or childhood. There are no known "tell-tale" signs of Kabuki syndrome prenatally, and there are no reports of common, specific findings in fetuses that might suggest the diagnosis. We present here two infants who presented with prenatal hydrops/ascites, who were subsequently diagnosed with Kabuki syndrome. Although relatively non-specific, we suggest that Kabuki syndrome be added to the list of genetic syndromes that are suspected in cases of prenatal hydrops, review the molecular etiology of Kabuki syndrome, and broaden the phenotype of this well-described disorder. © 2016 Wiley Periodicals, Inc.
authors: Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia.
authors: Ashleigh
authors: A
authors: Long
authors: Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia.
authors: Elena S
authors: ES
authors: Sinkovskaya
authors: Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors: Andrew C
authors: AC
authors: Edmondson
authors: Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors: Elaine
authors: E
authors: Zackai
authors: Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.|Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
authors: Samantha A
authors: SA
authors: Schrier Vergano
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D000483:Alleles; D001201:Ascites / Q000175:diagnosis / Q000209:etiology*; D002871:Chromosome Banding; D004268:DNA-Binding Proteins / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006402:Hematologic Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000209:etiology*; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D010641:Phenotype; D010808:Physical Examination; D011247:Pregnancy; D011296:Prenatal Diagnosis; D040641:Quantitative Trait Loci; D015837:Vestibular Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins
keywords: KDM6A; KMT2D; Kabuki; fetal ascites; hydrops; prenatal