title: A new patient with Lowry-Wood syndrome with mild phenotype.
abstract: Lowry-Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), microcephaly, and congenital nystagmus. A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. Molecular analysis of the cartilage oligomeric matrix protein (COMP) gene was performed and failed to find mutations.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: Daniele
authors.initials: D
authors.lastname: De Brasi
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.forename: Giovanni
authors.initials: G
authors.lastname: Camera
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Sebastio
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D064236:Cartilage Oligomeric Matrix Protein; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005808:Genes, Recessive; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D064235:Matrilin Proteins
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human