Oral-facial-digital syndrome type 1: Unique radiological findings

摘要

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 nonconsan-guineous and healthy, as were their other three sons and five daughters. Extended family history for similar dysmor-phic 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, hy-pertelorism, a flat face, low-set ears (Fig. la), lobulated tongue (Fig. 1b), and digital anomalies including brachy-dactyly, bilateral clinodactyly of the fifth fingers, and duplicated hallux of the right foot (Fig. Ic-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).