Kabuki syndrome: clinical and molecular diagnosis in the first year of life

Objective To review the clinical and molecular genetic characteristics of 16 patients presenting a suspected diagnosis of Kabuki syndrome (KS) in the first year of life, to evaluate the clinical handles leading to a prompt diagnosis of KS in newborns. Clinical diagnosis of KS can be challenging duri...

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Veröffentlicht in:	Archives of disease in childhood 2015-02, Vol.100 (2), p.158-164
Hauptverfasser:	Dentici, Maria Lisa, Di Pede, Alessandra, Lepri, Francesca Romana, Gnazzo, Maria, Lombardi, Mary Haywood, Auriti, Cinzia, Petrocchi, Stefano, Pisaneschi, Elisa, Bellacchio, Emanuele, Capolino, Rossella, Braguglia, Annabella, Angioni, Adriano, Dotta, Andrea, Digilio, Maria Cristina, Dallapiccola, Bruno
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Ambulatory care facilities Auditory Tests Care and treatment Child development Clinical Diagnosis Clinics Company business management Congenital defects Congenital diseases Congenital Impairments Data Analysis Developmental Delays Diagnosis DNA-Binding Proteins - genetics Dysmorphology Face - abnormalities Female Genetic aspects Genetic screening Genetics Genotype & phenotype Guidelines Health aspects Hematologic Diseases - diagnosis Hematologic Diseases - genetics Histone Demethylases - genetics Humans Infant, Newborn Infants (Newborn) Kabuki syndrome Leukocytes Libraries Literature reviews Male Management Medical Evaluation Moderate Intellectual Disability Molecular Diagnostic Techniques Mutation Neoplasm Proteins - genetics Newborn infants Nuclear Proteins - genetics Patients Physical Examinations Pregnancy Software Vestibular Diseases - diagnosis Vestibular Diseases - genetics Young Children
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