Abstract
Kabuki Syndrome (KS) is a rare multisystem genetic disorder. Patients present with unusual facial appearance with mental retardation along with other system involvement like cardiac, renal, neuropsychiatric disorder, hypodontia and post-natal growth retardation. Fundamental characteristics are called 'Pentad of Niikawa' which includes dysmorphic face, skeletal abnormalities, dermatoglyphic abnormalities, mild to moderate mental deficit and post-natal growth retardation. Patients with KS are reported from different parts of globe.
Highlights
Kabuki Syndrome (KS) is a rare multisystem genetic disorder
Patients present with unusual facial appearance with mental retardation along with other system involvement like cardiac, renal, neuropsychiatric disorder, hypodontia and post-natal growth retardation
Purpose of reporting the case of a Bangladeshi female child diagnosed as Kabuki syndrome with all her clinical features, laboratory tests and genetic report
Summary
Kabuki Syndrome (KS) is a rare multisystem genetic disorder. Patients present with unusual facial appearance with mental retardation along with other system involvement like cardiac, renal, neuropsychiatric disorder, hypodontia and post-natal growth retardation. Fundamental characteristics are called “Pentad of Niikawa” which includes dysmorphic face, skeletal abnormalities, dermatoglyphic abnormalities, mild to moderate mental deficit and post-natal growth retardation. Purpose of reporting the case of a Bangladeshi female child diagnosed as Kabuki syndrome with all her clinical features, laboratory tests and genetic report. This case highlights the existence of the syndrome with its complexities. Detection of rare genetic case like Kabuki Syndrome (KS) is very important and challenging in developing countries like Bangladesh where scope of genetic test is limited.
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