Phenotypic anomalies in Kabuki syndrome and their implications – an analysis of two cases in the light of scientific literature-Reference-Cited by-同舟云学术

Phenotypic anomalies in Kabuki syndrome and their implications – an analysis of two cases in the light of scientific literature

Published:2023-12-05 Issue:3 Volume:19 Page:237-243
ISSN:1734-1531
Container-title:Pediatria i Medycyna Rodzinna
language:
Short-container-title:Pediatr Med Rodz

Author:

Nosek-Wasilewska Paulina¹,Ploszka Aldona¹,Tkaczyk Marcin¹^ORCID,Rubik Jacek²^ORCID

Affiliation:

1. Department of Pediatrics, Immunology and Nephrology, Polish Mother’s Memorial Hospital Research Institute, Łódź, Poland

2. Department of Nephrology, Kidney Transplantation and Hypertension, Children’s Memorial Health Institute, Warsaw, Poland

Abstract

Kabuki syndrome (KS1: OMIM 147920, KS2: OMIM 300867) is a rare disorder characterised by dysmorphic face and limbs, microcephaly, short stature, and concomitant multiorgan congenital defects. The prevalence is estimated at 1:32,000–86,000 live births. Most patients are also diagnosed with mild to moderate intellectual disability. Molecular diagnosis includes an analysis for the two most common mutations in KMT2D (KS1), also known as MML2, and KDM6A (KS2) genes. Children diagnosed with Kabuki syndrome require multidisciplinary care. This paper presents detailed case reports of two children diagnosed with Kabuki syndrome, who presented with different manifestations of kidney disease. One of the patients required kidney transplantation, which determines the length and quality of life.

Publisher

Medical Communications Sp. z.o.o.

Subject

Family Practice,Pediatrics, Perinatology and Child Health

Reference26 articles.

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