Cutis laxa (CL) is a rare connective tissue disorder characterized by wrinkled, abundant and sagging skin, sometimes associated with systemic impairment. Biallelic alterations in latent transforming growth factor beta-binding protein 4 gene (LTBP4) cause autosomal recessive type 1C cutis laxa (ARCL1C, MIM #613177). The present report describes the case of a 17-months-old girl with cutis laxa together with a literature review of previous ARCL1C cases. Based on proband main clinical signs (cutis laxa and pulmonary emphysema), clinical exome sequencing (CES) was performed and showed a new nine base-pairs homozygous in-frame deletion in LTBP4 gene. RT-PCR and cDNA Sanger sequencing were performed in order to clarify its impact on RNA. This report demonstrates that a genetic alteration in the EGF-like 14 domain calcium-binding motif of LTBP4 gene is likely responsible for cutis laxa in our patient.autosomal recessive cutis laxa type 1C (ARCL1C), calcium-binding epidermal growth factor-like domain, LTBP4, Urban-Rifkin-Davis syndrome (URDS) | INTRODUCTIONCutis laxa is a group of rare connective tissue disorders characterized by loose and wrinkled skin. It is associated with skeletal and developmental abnormalities and, in some cases, severe systemic impairments (Beyens et al., 2021).Connective tissue is a supporting tissue consisting of three components: (1) secretory cells synthetizing ground substance and specific proteins which give connective tissue its characteristics, (2) elastin made elastic fibers, responsible for the skin elastic properties, and collagen made reticular fibers contributing to small blood vessels and soft tissues support, and (3) ground substance.Cutis laxa is the Latin term for sagging or slackened, nonstretchable skin. This wrinkle-like skin can be particularly noticeable on the face, neck, armpits, and limbs. Cutis laxa may be inherited or acquired.Acquired forms most often occur in adulthood, their etiology including infections, drugs, or paraneoplasia (Lewis et al., 2004).Three major groups are individualized based on the inheritance mode: autosomal dominant, autosomal recessive, and X-linked recessive cutis laxa.