EP07.19: Prenatal diagnosis of fetal cutis laxa: a case report

A 30-year-old G3P1 woman's prenatal ultrasound at 27 weeks gestation showed multiple fetal anomalies including wrinkled skin, slender limbs, fingers, toes, wrist hypermobility, pectus excavatum, enlarged cardiothoracic ratio, tortuous aortic arch branches, ductus arteriosus, descending aorta, and a left inguinal hernia. These findings suggesting the possibility of hereditary connective tissue disease. The parents decided to induce labour. Following delivery, anatomical and pathological analyses, alongside whole-exome sequencing of fetal tissue and parental blood, identified a pathogenic EFEMP2 gene mutation (NM_016938.4) on chromosome 11 at position 65637700. This mutation, a c.499G>T nucleotide substitution leading to a p.Glu167* stop codon, is associated with autosomal recessive cutis laxa type IB (ARCL-IB). Both parents are heterozygous carriers of this homozygous mutation. Cutis laxa (CL) is a rare connective tissue disorder, with the autosomal recessive subtype (ARCL) being the most prevalent and clinically complex form. ARCL-IB involves severe systemic connective tissue issues, leading to high childhood mortality. Key symptoms include arterial tortuosity, aneurysms, pulmonary hypertension, developmental emphysema, osteogenesis imperfecta, joint laxity, hernias, fractures, slender bones, and fragile vessels. Similar symptoms in Arterial Tortuosity Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Vascular Ehlers-Danlos Syndrome, and Familial Thoracic Aortic Aneurysm and Dissection require differential diagnosis through genetic testing. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.