Fig. 1
From: Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype
Clinical images of the proband. a Distinctive facial features include a long, narrow face, ectropia of the lower eyelids, and downslanting palpebral fissures; b The skin is thin and translucent; c Large Bochdalek hernia on both sides of the mediastinum with loops of small bowel herniated into the thorax, along with spleen and mesenteric vessels. An obturator hernia is also evident on the left with bladder content; d Diaphragmatic hernia with small bowel loops and stomach in the thorax with multiple pleural based bullae (*) throughout both lung fields; e Coronal MRI of the pelvis with a bladder diverticulum (*) and left obturator hernia (**) containing bladder evident; f Coronal MRI of the pelvis with a pelvic floor hernia with small bowel loop plus bladder content present (***) in addition to a small left obturator hernia
