A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

摘要

The girl is the first child of unrelated parents. She was delivered by Caesarean section at 33 weeks of gestation because of foetal distress. Birth weight was 1400g (P10), length 38 cm (P10) and head circumference 27.5 cm (P10-25). At birth linear skin defects limited to the face and neck and bilateral microphthalmia with cloudy cornea, which developed into complete sclerocornea, were noted (Fig. 1).The child was apnoeic and immediately intubated and ventilated. After circulatory stabilization, the girl was operated on day 5 for a left-sided diaphragmatic hernia with patch reconstruction.