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Craniolenticulosutural dysplasia
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Smooth philtrum
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
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