Abstract:Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome characterized by motor and mental retardation, short neck, micrognathia, microcephaly, high palate, hypertrichosis, major anomalies of the cardiac, gastrointestinal, and musculoskeletal systems, and dysmorphic facial appearance. 1 The most common chromosomal abnormalities are partial trisomy in the long arm of the 3 rd chromosome (3q26.1) or monosomy in the long arm of the 9th chromosome. 2 The prevalence of CdLS varies between 1/10,000 and 1/50,0… Show more
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