PMC9636884_01
PMC9636884_02
Colombian patient with MWS. Seven-year-old female with long face, sparse eyebrows, widely spaced eyes, downturned palpebral fissures, short columella, low-set and posteriorly rotated ears.
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Physical examination at the current age (Figure 1) revealed intellectual disability, global developmental impairment, including language and motor development, wide intermammillary distance, desquamative skin rash in hands and facial gestalt comprising microcephaly (head circumference: 48.2 cm, <1st percentile), high forehead, low hairline, coarse and sparse hair, sparse eyebrows, telecanthus, low and posteriorly set ears, anteverted nares, short columella, bulbous nasal tip, high-arched palate and short neck.