PMC7236877_01
Clinical features of the proband. a Narrow forehead, bilateral frontoparietal hypertrichosis, hypertelorism, sparse eyebrows, down slanting palpebral fissures, sparse short eyelashes, smooth filtrum, thin upper lip, and telethelia. b Brachycephaly, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, and large ears rotated backwards. c High arched palate. d Hypertrichosis. e Hypermelanosis in the right scapular region. f Clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, broad thumb, and deep creases on right hand
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PMC7236877_01_13039_2020_484_Fig1_HTML.jpg
Fig1
His craniofacial features included brachycephaly, flat occiput, punctiform posterior fontanel, bilateral frontoparietal hypertrichosis, short neck, low set ears rotated backwards, downslanted palpebral fissures, hypertelorism, thin upper lip, upwards labial commisures, depressed nasal root, broad nasal bridge, bulbous nasal tip, broad nasal ala, prominent colummela and smooth filtrum (Fig. 1a and b). Other phenotypic abnormalities included widely spaced nipples (Fig. 1a); high arched palate (Fig. 1c); hypertrichosis from dorsal to the sacral region (Fig. 1d); dermal hypermelanosis in the right scapular region (Fig. 1e); Clinodactyly and hypoplasia of the terminal phalanx of the fifth finger in both hands (Fig. 1f); broad first toes with dysplastic nails and deep creases on right foot plant; hyperplastic scrotum, right cryptorchidism and hypoplastic left testicle.