Clinical Report : Apert Syndrome With Frontonasal Encephalocele

C . S . was born at term after an uncomplicated gestation. At delivery, her mother was a 25-year-old, healthy, gravida 2, para 1 woman who denied illnesses and use of drugs or medications during pregnancy. Both parents and another older brother were normal. At birth, the infant was noted to have a skin-covered mass bulging from the metopic suture extending externally to the tip of her nose, marked hypertelorism, and syndactyly involving all four limbs. She weighed 2,990 gm, was 49 cm long, and had a head circumference (OFC) of 34.5 cm. A cranial CT scan showed a large defect in the frontal bone and a basifrontal encephalocele. At age 3 weeks, part of the frontal mass was removed.

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