{'fraction_non_alphanumeric': 0.03705533596837945, 'fraction_numerical': 0.01432806324110672, 'mean_word_length': 5.155015197568389, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Oral-facial-digital syndrome type 1: unique radiological findings.

Case report The proband was a 3-year-old Saudi girl who was referred for genetic assessment because of facial dysmorphism and duplicated right great toe. The parents were nonconsanguineous and healthy, as were their other three sons and five daughters. Extended family history for similar dysmorphic features and congenital anomalies were negative. The patient was born at term after an uneventful pregnancy. Her birth weight was 2.5 kg (10th centile) and at 2 years of age her weight was 8.3 kg ({5th centile), height 76 cm ({5th centile), and head circumference was 42 cm (second centile). She was noted to have dysmorphic facial features including downslanting palpebral fissures, hypertelorism, a flat face, low-set ears (Fig. 1a), lobulated tongue (Fig. 1b), and digital anomalies including brachydactyly, bilateral clinodactyly of the fifth fingers, and duplicated hallux of the right foot (Fig. 1c–e). Skeletal survey of the upper arms showed dislocated radial heads bilaterally (Figs 2a and b). Radiograph of the hands showed no abnormalities except for clinodactyly. Radiograph of long bones of lower limbs showed cone-shaped distal epiphyses of both femurs (Fig. 2c). Radiograph of the feet showed broad duplicated right big toe (data not shown). Echocardiography and ultrasound scans were normal. There was no evidence of any developmental nor growth delay and intelligence was normal. Brain imaging was declined by parents as the child has normal mentality. Ophthalmologic and hearing assessments were normal. Chromosomal analysis revealed a normal female karyotype 46,XX. The suspected diagnosis of oral–facial–digital syndrome type 1 (OFD1) was raised based on characteristic dysmorphic features, lobulated tongue, unilateral duplicated big toe, and the classic radiological picture of the syndrome. The molecular genetic testing confirmed the clinical diagnosis with a frameshift (c.710dupA) heterozygous mutation in exon 8 of the OFD1 gene.