Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.

ABSTRACT:

Background

This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants.

Methods

This paper presents a case of an extremely low birth weight infant (gestational age 29 weeks) with KS1 caused by a variant in the KMT2D gene. The clinical, pathological, and differential diagnostic findings were comprehensively analyzed. A thorough literature review was also performed to enhance the understanding of KS, revealing its unique features and prognostic significance.

Results

The infant was a male with a gestational age of 29 weeks and a birth weight of 850 g. He had intrauterine growth retardation, characterized by cleft palate, sacrococcygeal skin depressions, and recurrent metabolic acidosis. Whole-exome sequencing revealed the c.4267C >

SUBMITTER: Li Q 

PROVIDER: S-EPMC11476741 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature