Journal of Pediatrics & Neonatal Biology(JPNB)
ISSN: 2573-9611 | DOI: 10.33140/JPNB
Researchers and authors can directly submit their manuscript online through this link Online Manuscript Submission.
Legius Syndrome in a 13 Month Old Boy: A Case Report
Abstract
Dipali Shah
Legius syndrome is autosomal dominant and caused by mutations in the SPRED1 gene. Clinical manifestations include multiple cafe-au-lait spots, axillary/ inguinal freckling and a degree of macrocephaly, without the non-pigmentary signs of neurofibromatosis type 1 (NF1). Learning disabilities, developmental delay and ADHD are also known.