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  • A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid\'s bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.
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Anon_0  
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