Kabuki syndrome (KS) is a rare developmental disorder principally comprised of
developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the …

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies
and mental retardation. Other characteristics include a peculiar facial gestalt, short stature …

The latest edition of Pediatric Dermatology, edited by Lawrence A. Schachner, MD and
Ronald C. Hansen, MD brings you the detailed guidance you need to effectively diagnose …

Evidence suggests that genetic factors contribute to the development of anorectal
malformations (ARMs). However, the etiology of the majority of ARMs cases remains …

Background: Kabuki syndrome (KS) is an entity of multiple congenital malformations with
mental retardation with undetermined etiology. Congenital heart defects are one of the …

We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some
infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small …

Most patients with Kabuki syndrome (KS) are the only person in their family with the
condition. However, familial cases of KS have been described showing evidence that this …

先天性唇瘘是一种极其罕见的先天性畸形, 大多发生在下唇, 发生在上唇者少见.
患者多因局部不适或美容需求而就诊, 由于先天性唇瘘畸形发生率极低, 且部分患者无明显临床 …

Kabuki syndrome (KS) is extensively described in the literature and characterized by a
typical facial gestalt in combination with postnatal short stature, hypotonia, joint laxity …

Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies,
intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies …