ABSTRACT Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, endocrine, and dental anomalies. One of the main differential diagnoses is CHARGE syndrome, standing for and characterized by Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Restricted intellectual development, Genitourinary malformations, and Ear anomalies. Because these syndromes have similar characteristics, distinguishing them may be challenging. A 24-year-old male patient admitted with reduced renal function […]

ABSTRACT Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic counseling for families at risk. However, in the last decades, the remarkable advances in the knowledge of genetic aspects of autism based on genetic and molecular research, as well as the development of new molecular diagnostic tools, have substantially changed this scenario. Nowadays, it is estimated that using the currently available molecular tests, […]