Open AccessLegius Syndrome in a 13 Month Old Boy: A Case Report
Publication year - 2017
Publication title -
journal of pediatrics and neonatal biology
Language(s) - English
Resource type - Journals
ISSN - 2573-9611
DOI - 10.33140/jpnb.02.01.09
Subject(s) - macrocephaly , neurofibromatosis , medicine , pediatrics , café au lait spot , dermatology , pathology
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.