We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes.
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http://dx.doi.org/10.1111/pde.12969 | DOI Listing |
Ophthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Sciences.
Cureus
October 2024
Spine Surgery, Shiga General Hospital, Shiga, JPN.
There are few reports of syndromic scoliosis accompanied by a congenital vertebral anomaly. We report a case of Sotos syndrome with a concomitant congenital wedged vertebra whose kyphoscoliosis progressed rapidly and presented with myelopathy during the growth-spurt period. A 12-year-old male suffering from Sotos syndrome with T10-wedged vertebra presented with paraparesis and urinary dysfunction.
View Article and Find Full Text PDFMol Genet Genomic Med
November 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Background: Sotos syndrome (SS) is a rare disorder characterized by overgrowth, distinctive facial features, and intellectual disability that is primarily caused by NSD1 pathogenic variants or 5q35 microdeletions.
Methods: We retrospectively analyzed the clinical characteristics and 339 anthropometric measurements over an average of 4.3 years of follow-up in 57 Korean children with SS.
Prenat Diagn
December 2024
Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Objective: This study aims to elucidate two distinct fetal ultrasound features associated with aberrant brain sulcus formation as potential prenatal markers for Sotos syndrome caused by mutations in the NSD1 gene.
Method: This retrospective study investigated three fetuses across two pregnancies, including a pair of monochorionic diamniotic twins, all diagnosed with Sotos syndrome via whole exome sequencing (WES). Comprehensive clinical and laboratory data were collected and analyzed.
Genes (Basel)
August 2024
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Germline variants in the NSD1 gene are responsible for Sotos syndrome, while somatic variants promote neoplastic cell transformation. Our previous studies revealed three alternative RNA isoforms of present in fibroblast cell lines (FBs): the canonical full transcript and 2 alternative transcripts, termed AT2 (NSD1 Δ5Δ7) and AT3 ( Δ19-23 at the 5' end). The precise molecular pathways affected by each specific isoform of are uncharacterized to date.
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