Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome.

摘要

We present a male infant born at 36 weeks with normal growth parameters who had been diagnosed antenatally with a left-sided diaphragmatic hernia. Polyhydramnios requiring amnioreduction at 34 weeks also complicated the pregnancy. Postnatally he was diagnosed with an imperforate anus, perineoscrotal hypospadias, bifid scrotum and undescended testes. MRI of his brain showed a Dandy-Walker variant (inferior vermis dysgenesis). Dys-morphic facial features including hypertelorism and a flat nasal bridge were noted (Fig. 1). The diaphragmatic defect was repaired and a colostomy formed on day 2 of life. A laryngeal cleft was noted at several weeks of age during an intubation attempt. The laryngeal cleft could not be surgically repaired and a tracheostomy was performed.