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

Recognition of distinct phenotypic features is an important component of genetic diagnosis.
Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex …

Background Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple
congenital anomalies and intellectual disabilities, which is inherited in an autosomal …

Introdução: A Síndrome de Kabuki, também conhecida como Síndrome de Niikawa-Kuroki,
é uma doença genética rara e complexa, caracterizada por uma combinação única de …

We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian
parents with typical characteristics of Kabuki make-up syndrome. The patient had …

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

Background: Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple
congenital anomalies and intellectual disabilities, which is inherited in an autosomal …

Figure 7-8: Elargissement de la racine et de la base du nez avec une columelle courte.
Figure 9: Béance antérieure avec dysplasie des incisives centrales inférieures et absence …